Variant report
| Variant | nsv899556 |
|---|---|
| Chromosome Location | chr12:120695141-120779931 |
| allele | n/a |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:4339)
- CpG islands (count:3663)
- Chromatin interactive region (count:559)
- LncRNA region (count:4)
- Mature miRNA region (count: 0)
- miRNA target sites (count:4)
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | ARID3A | chr12:120759132-120759593 | HepG2 | liver: | n/a | n/a |
| 2 | ARID3A | chr12:120754524-120754855 | HepG2 | liver: | n/a | n/a |
| 3 | ARID3A | chr12:120730653-120731613 | HepG2 | liver: | n/a | n/a |
| 4 | ARID3A | chr12:120739782-120740559 | HepG2 | liver: | n/a | n/a |
| 5 | ARID3A | chr12:120755151-120755871 | K562 | blood: | n/a | n/a |
| 6 | ARID3A | chr12:120703670-120703870 | K562 | blood: | n/a | n/a |
| 7 | ARID3A | chr12:120739839-120740366 | K562 | blood: | n/a | n/a |
| 8 | ARID3A | chr12:120729143-120730178 | K562 | blood: | n/a | n/a |
| 9 | ARID3A | chr12:120755116-120755829 | HepG2 | liver: | n/a | n/a |
| 10 | ARID3A | chr12:120763268-120763501 | HepG2 | liver: | n/a | n/a |
| 11 | ARID3A | chr12:120703669-120703915 | HepG2 | liver: | n/a | n/a |
| 12 | ARID3A | chr12:120729140-120730175 | HepG2 | liver: | n/a | n/a |
| 13 | ARID3A | chr12:120763314-120763581 | K562 | blood: | n/a | n/a |
| 14 | ARID3A | chr12:120752078-120752339 | K562 | blood: | n/a | n/a |
| 15 | ARID3A | chr12:120730499-120731658 | K562 | blood: | n/a | n/a |
| 16 | ARID3A | chr12:120765561-120765786 | HepG2 | liver: | n/a | n/a |
| 17 | ATF1 | chr12:120729124-120730184 | K562 | blood: | n/a | chr12:120729937-120729951 |
| 18 | ATF1 | chr12:120730535-120731258 | K562 | blood: | n/a | n/a |
| 19 | ATF1 | chr12:120755277-120755839 | K562 | blood: | n/a | n/a |
| 20 | ATF1 | chr12:120763282-120763606 | K562 | blood: | n/a | n/a |
| 21 | ATF1 | chr12:120735053-120735248 | K562 | blood: | n/a | n/a |
| 22 | ATF1 | chr12:120739890-120740328 | K562 | blood: | n/a | n/a |
| 23 | ATF2 | chr12:120755403-120755921 | GM12878 | blood: | n/a | n/a |
| 24 | ATF2 | chr12:120728959-120731503 | GM12878 | blood: | n/a | chr12:120729939-120729950 chr12:120729937-120729951 |
| 25 | ATF2 | chr12:120755182-120755908 | GM12878 | blood: | n/a | n/a |
| 26 | ATF2 | chr12:120730243-120731462 | GM12878 | blood: | n/a | n/a |
| 27 | ATF2 | chr12:120729049-120730089 | H1-hESC | embryonic stem cell: | n/a | chr12:120729939-120729950 chr12:120729937-120729951 |
| 28 | ATF2 | chr12:120755322-120755915 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 29 | ATF2 | chr12:120730449-120731456 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 30 | ATF2 | chr12:120728999-120731446 | H1-hESC | embryonic stem cell: | n/a | chr12:120729939-120729950 chr12:120729937-120729951 |
| 31 | ATF2 | chr12:120728990-120730226 | GM12878 | blood: | n/a | chr12:120729939-120729950 chr12:120729937-120729951 |
| 32 | ATF2 | chr12:120755089-120755971 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 33 | ATF3 | chr12:120729040-120730251 | A549 | lung: | n/a | chr12:120729941-120729949 chr12:120729937-120729952 chr12:120729938-120729948 chr12:120729941-120729951 chr12:120729941-120729951 chr12:120729938-120729951 chr12:120729940-120729951 chr12:120729941-120729948 chr12:120729939-120729950 chr12:120729939-120729950 chr12:120729940-120729948 |
| 34 | ATF3 | chr12:120729093-120730182 | K562 | blood: | n/a | chr12:120729941-120729949 chr12:120729937-120729952 chr12:120729938-120729948 chr12:120729941-120729951 chr12:120729941-120729951 chr12:120729938-120729951 chr12:120729940-120729951 chr12:120729941-120729948 chr12:120729939-120729950 chr12:120729939-120729950 chr12:120729940-120729948 |
| 35 | ATF3 | chr12:120755382-120755710 | GM12878 | blood: | n/a | chr12:120755594-120755603 chr12:120755655-120755666 chr12:120755657-120755665 chr12:120755655-120755666 |
| 36 | ATF3 | chr12:120703596-120704000 | K562 | blood: | n/a | n/a |
| 37 | ATF3 | chr12:120728977-120730201 | A549 | lung: | n/a | chr12:120729941-120729949 chr12:120729937-120729952 chr12:120729938-120729948 chr12:120729941-120729951 chr12:120729941-120729951 chr12:120729938-120729951 chr12:120729940-120729951 chr12:120729941-120729948 chr12:120729939-120729950 chr12:120729939-120729950 chr12:120729940-120729948 |
| 38 | ATF3 | chr12:120755111-120755857 | K562 | blood: | n/a | chr12:120755594-120755603 chr12:120755655-120755666 chr12:120755657-120755665 chr12:120755655-120755666 |
| 39 | ATF3 | chr12:120739852-120740363 | A549 | lung: | n/a | n/a |
| 40 | ATF3 | chr12:120730356-120731315 | A549 | lung: | n/a | n/a |
| 41 | ATF3 | chr12:120739753-120740553 | A549 | lung: | n/a | n/a |
| 42 | ATF3 | chr12:120755166-120755831 | GM12878 | blood: | n/a | chr12:120755594-120755603 chr12:120755655-120755666 chr12:120755657-120755665 chr12:120755655-120755666 |
| 43 | ATF3 | chr12:120755121-120755754 | K562 | blood: | n/a | chr12:120755594-120755603 chr12:120755655-120755666 chr12:120755657-120755665 chr12:120755655-120755666 |
| 44 | ATF3 | chr12:120730464-120731216 | K562 | blood: | n/a | n/a |
| 45 | ATF3 | chr12:120755348-120755719 | HepG2 | liver: | n/a | chr12:120755594-120755603 chr12:120755655-120755666 chr12:120755657-120755665 chr12:120755655-120755666 |
| 46 | ATF3 | chr12:120730215-120731403 | A549 | lung: | n/a | n/a |
| 47 | ATF3 | chr12:120703620-120703940 | K562 | blood: | n/a | n/a |
| 48 | ATF3 | chr12:120755354-120755794 | H1-hESC | embryonic stem cell: | n/a | chr12:120755594-120755603 chr12:120755655-120755666 chr12:120755657-120755665 chr12:120755655-120755666 |
| 49 | ATF3 | chr12:120739934-120740202 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 50 | ATF3 | chr12:120755210-120755798 | HepG2 | liver: | n/a | chr12:120755594-120755603 chr12:120755655-120755666 chr12:120755657-120755665 chr12:120755655-120755666 |
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:120763591-120763641 | HL-60 | blood: | n/a |
| 2 | chr12:120740020-120740070 | HUVEC | blood vessel: | n/a |
| 3 | chr12:120763716-120763766 | IMR90 | lung: | fetal |
| 4 | chr12:120763591-120763641 | HL-60 | blood: | n/a |
| 5 | chr12:120740020-120740070 | HUVEC | blood vessel: | n/a |
| 6 | chr12:120763716-120763766 | IMR90 | lung: | fetal |
| 7 | chr12:120730932-120730982 | SK-N-SH_RA | brain: | n/a |
| 8 | chr12:120729794-120729844 | SKMC | muscle: | n/a |
| 9 | chr12:120758715-120758765 | HCPEpiC | choroid plexus: | n/a |
| 10 | chr12:120741653-120741703 | AG09309 | skin: | n/a |
| 11 | chr12:120741653-120741703 | ECC-1 | luminal epithelium: | n/a |
| 12 | chr12:120729817-120729867 | CMK | blood: | n/a |
| 13 | chr12:120703977-120704027 | SKMC | muscle: | n/a |
| 14 | chr12:120731287-120731337 | K562 | blood: | n/a |
| 15 | chr12:120729684-120729734 | AoSMC | blood vessel: | n/a |
| 16 | chr12:120755411-120755461 | Caco-2 | colon: | n/a |
| 17 | chr12:120715931-120715981 | HUVEC | blood vessel: | n/a |
| 18 | chr12:120779721-120779771 | ProgFib | skin: | n/a |
| 19 | chr12:120755411-120755461 | BE2_C | brain: | n/a |
| 20 | chr12:120703817-120703867 | HRPEpiC | eye: | n/a |
| 21 | chr12:120720185-120720235 | Caco-2 | colon: | n/a |
| 22 | chr12:120731287-120731337 | AG04449 | skin: | fetal |
| 23 | chr12:120750311-120750361 | PrEC | prostate: | n/a |
| 24 | chr12:120729728-120729778 | Hela-S3 | cervix: | n/a |
| 25 | chr12:120730932-120730982 | ProgFib | skin: | n/a |
| 26 | chr12:120716675-120716725 | SK-N-SH_RA | brain: | n/a |
| 27 | chr12:120740453-120740503 | NHBE | bronchial: | n/a |
| 28 | chr12:120779721-120779771 | HCT-116 | colon: | n/a |
| 29 | chr12:120729728-120729778 | AG09319 | gingival: | n/a |
| 30 | chr12:120729960-120730010 | HL-60 | blood: | n/a |
| 31 | chr12:120731179-120731229 | GM12878 | blood: | n/a |
| 32 | chr12:120740337-120740387 | K562 | blood: | n/a |
| 33 | chr12:120752270-120752320 | CMK | blood: | n/a |
| 34 | chr12:120703729-120703779 | HPAEpiC | pulmonary alveolar: | n/a |
| 35 | chr12:120740057-120740107 | HCPEpiC | choroid plexus: | n/a |
| 36 | chr12:120706015-120706065 | NB4 | blood: | n/a |
| 37 | chr12:120779721-120779771 | SK-N-SH | brain: | n/a |
| 38 | chr12:120700361-120700411 | HEK293 | kidney: | embryo |
| 39 | chr12:120755296-120755346 | SK-N-SH_RA | brain: | n/a |
| 40 | chr12:120700361-120700411 | AG10803 | skin: | n/a |
| 41 | chr12:120703977-120704027 | HCPEpiC | choroid plexus: | n/a |
| 42 | chr12:120700361-120700411 | GM12891 | blood: | n/a |
| 43 | chr12:120729728-120729778 | HCPEpiC | choroid plexus: | n/a |
| 44 | chr12:120729960-120730010 | HPAEpiC | pulmonary alveolar: | n/a |
| 45 | chr12:120703085-120703135 | NB4 | blood: | n/a |
| 46 | chr12:120729794-120729844 | AG04449 | skin: | fetal |
| 47 | chr12:120755827-120755877 | SK-N-SH_RA | brain: | n/a |
| 48 | chr12:120741653-120741703 | ovcar-3 | ovarian: | n/a |
| 49 | chr12:120765718-120765768 | HCM | heart: | n/a |
| 50 | chr12:120766223-120766273 | K562 | blood: | n/a |
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:120636353..120639071-chr12:120714481..120716789,2 | K562 | blood: | |
| 2 | chr12:120729656..120731350-chr19:54704003..54705682,2 | MCF-7 | breast: | |
| 3 | chr12:120728126..120731118-chr12:125401417..125403389,2 | K562 | blood: | |
| 4 | chr12:120638786..120640302-chr12:120719787..120721546,2 | K562 | blood: | |
| 5 | chr12:120692902..120700386-chr12:120700764..120704596,11 | K562 | blood: | |
| 6 | chr1:201475401..201477306-chr12:120728323..120729891,2 | MCF-7 | breast: | |
| 7 | chr12:120665103..120667873-chr12:120713460..120715330,2 | K562 | blood: | |
| 8 | chr1:193073984..193074914-chr12:120729629..120730538,2 | Hela-S3 | cervix: | |
| 9 | chr12:120729218..120729841-chr7:108166147..108166820,2 | Hela-S3 | cervix: | |
| 10 | chr12:120730326..120731245-chr19:12902253..12902807,2 | Hela-S3 | cervix: | |
| 11 | chr1:207205837..207208617-chr12:120729245..120731322,2 | MCF-7 | breast: | |
| 12 | chr12:120729288..120730125-chrX:16804114..16804834,2 | Hela-S3 | cervix: | |
| 13 | chr1:11863864..11866572-chr12:120727968..120730907,2 | MCF-7 | breast: | |
| 14 | chr12:120729000..120729851-chr16:29972956..29973661,2 | Hela-S3 | cervix: | |
| 15 | chr12:120728383..120731153-chr19:58871924..58874129,2 | MCF-7 | breast: | |
| 16 | chr1:23345793..23346537-chr12:120729395..120729904,2 | Hela-S3 | cervix: | |
| 17 | chr12:120728994..120729825-chr7:45039756..45040369,2 | NB4 | blood: | |
| 18 | chr12:120712830..120715464-chr12:120717373..120719592,2 | K562 | blood: | |
| 19 | chr12:120730545..120732860-chr16:21170253..21173007,2 | MCF-7 | breast: | |
| 20 | chr12:120574094..120576692-chr12:120727147..120728915,2 | K562 | blood: | |
| 21 | chr12:120631810..120634031-chr12:120713048..120714969,2 | K562 | blood: | |
| 22 | chr12:120729630..120732175-chr14:50064387..50066084,2 | MCF-7 | breast: | |
| 23 | chr12:120728472..120731126-chr12:121019042..121021642,2 | K562 | blood: | |
| 24 | chr12:120735730..120737372-chr12:120874827..120877455,2 | K562 | blood: | |
| 25 | chr12:120729625..120732336-chr8:146016305..146017842,2 | MCF-7 | breast: | |
| 26 | chr12:120673268..120675203-chr12:120695406..120697160,2 | K562 | blood: | |
| 27 | chr12:120730745..120731294-chr16:19509557..19510440,2 | Hela-S3 | cervix: | |
| 28 | chr12:120727971..120731038-chr20:60717454..60720528,7 | MCF-7 | breast: | |
| 29 | chr12:120515699..120519633-chr12:120727984..120732928,6 | MCF-7 | breast: | |
| 30 | chr12:120729387..120731467-chr6:13710748..13713061,2 | MCF-7 | breast: | |
| 31 | chr12:120753311..120755583-chr12:120775360..120777758,2 | K562 | blood: | |
| 32 | chr12:2113450..2114409-chr12:120729375..120730033,2 | Hela-S3 | cervix: | |
| 33 | chr12:120726494..120729362-chr6:7140099..7142503,2 | MCF-7 | breast: | |
| 34 | chr12:120759487..120761384-chr12:120780386..120782433,2 | MCF-7 | breast: | |
| 35 | chr12:120728324..120730355-chr17:57914179..57917170,2 | MCF-7 | breast: | |
| 36 | chr12:120729251..120730964-chr3:63993898..63995507,2 | MCF-7 | breast: | |
| 37 | chr12:120728047..120729671-chr17:64950148..64951651,2 | MCF-7 | breast: | |
| 38 | chr12:120729883..120732315-chr2:43822185..43824876,2 | MCF-7 | breast: | |
| 39 | chr12:120690570..120692197-chr12:120693845..120695408,2 | K562 | blood: | |
| 40 | chr12:120728297..120729929-chr22:23519462..23522442,4 | MCF-7 | breast: | |
| 41 | chr12:120727805..120730561-chr7:72935805..72938237,2 | MCF-7 | breast: | |
| 42 | chr10:65028535..65029186-chr12:120729290..120730037,2 | Hela-S3 | cervix: | |
| 43 | chr1:11969812..11970321-chr12:120729359..120730114,3 | Hela-S3 | cervix: | |
| 44 | chr12:120631677..120634654-chr12:120773486..120775282,2 | MCF-7 | breast: | |
| 45 | chr12:120729281..120730033-chr2:220117457..220118767,4 | Hela-S3 | cervix: | |
| 46 | chr12:120729488..120730036-chr6:7389750..7390446,2 | Hela-S3 | cervix: | |
| 47 | chr12:120671830..120673653-chr12:120697293..120699656,2 | K562 | blood: | |
| 48 | chr12:120727862..120729832-chr12:122063740..122066187,2 | K562 | blood: | |
| 49 | chr12:120730619..120731550-chr15:91498504..91499499,2 | Hela-S3 | cervix: | |
| 50 | chr12:120758856..120760738-chr12:120761822..120763461,2 | MCF-7 | breast: |
(count:4 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-SIRT4-3 | chr12:120717554-120718527 | l_745_chr12:120717553-120722245_placenta |
| 2 | lnc-SIRT4-3 | chr12:120722132-120722245 | l_745_chr12:120717553-120722245_placenta |
| 3 | lnc-RPLP0-4 | chr12:120703420-120703540 | NONHSAT031127 |
| 4 | lnc-SIRT4-2 | chr12:120739773-120739999 | expReg_chr12_11414_+ |
| No data |
(count:4 , 50 per page) page:
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| No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
|---|---|---|---|---|
| 1 | SIRT4 | hsa-miR-16-5p | chr12:120750889-120750896 | |
| 2 | SIRT4 | hsa-miR-26b-5p | chr12:120750865-120750885 | |
| 3 | SIRT4 | hsa-miR-16-5p | chr12:120750875-120750896 | |
| 4 | SIRT4 | hsa-miR-148b-3p | chr12:120750940-120750958 |
| Variant related genes | Relation type |
|---|---|
| PLA2G1B | TF binding region |
| RNU6-1088P | TF binding region |
| RNU4-1 | TF binding region |
| NME2P1 | TF binding region |
| RNU4-2 | TF binding region |
| SIRT4 | TF binding region |
| PXN | TF binding region |
| PLA2G1B | CpG island |
| RNU6-1088P | CpG island |
| RNU4-1 | CpG island |
| NME2P1 | CpG island |
| RNU4-2 | CpG island |
| SIRT4 | CpG island |
| PXN | CpG island |
| ENSG00000100241 | chromatin interactions |
| ENSG00000230415 | chromatin interactions |
| ENSG00000244291 | chromatin interactions |
| ENSG00000204237 | chromatin interactions |
| ENSG00000257218 | chromatin interactions |
| ENSG00000109062 | chromatin interactions |
| ENSG00000022840 | chromatin interactions |
| ENSG00000103275 | chromatin interactions |
| ENSG00000151065 | chromatin interactions |
| ENSG00000197958 | chromatin interactions |
| ENSG00000010017 | chromatin interactions |
| ENSG00000143621 | chromatin interactions |
| ENSG00000123600 | chromatin interactions |
| ENSG00000089009 | chromatin interactions |
| ENSG00000185122 | chromatin interactions |
| ENSG00000162923 | chromatin interactions |
| ENSG00000136888 | chromatin interactions |
| ENSG00000131153 | chromatin interactions |
| ENSG00000163848 | chromatin interactions |
| ENSG00000167272 | chromatin interactions |
| ENSG00000259066 | chromatin interactions |
| ENSG00000179104 | chromatin interactions |
| ENSG00000272849 | chromatin interactions |
| ENSG00000135482 | chromatin interactions |
| ENSG00000224165 | chromatin interactions |
| ENSG00000128789 | chromatin interactions |
| ENSG00000167733 | chromatin interactions |
| ENSG00000180818 | chromatin interactions |
| ENSG00000100243 | chromatin interactions |
| ENSG00000015133 | chromatin interactions |
| ENSG00000198805 | chromatin interactions |
| ENSG00000272081 | chromatin interactions |
| ENSG00000174586 | chromatin interactions |
| ENSG00000266680 | chromatin interactions |
| ENSG00000062716 | chromatin interactions |
| ENSG00000116752 | chromatin interactions |
| ENSG00000204590 | chromatin interactions |
| ENSG00000256569 | chromatin interactions |
| ENSG00000115392 | chromatin interactions |
| ENSG00000184678 | chromatin interactions |
| ENSG00000047315 | chromatin interactions |
| ENSG00000152904 | chromatin interactions |
| ENSG00000182795 | chromatin interactions |
| ENSG00000158615 | chromatin interactions |
| ENSG00000101040 | chromatin interactions |
| ENSG00000230615 | chromatin interactions |
| ENSG00000113810 | chromatin interactions |
| ENSG00000141232 | chromatin interactions |
| ENSG00000161016 | chromatin interactions |
| ENSG00000156469 | chromatin interactions |
| ENSG00000115827 | chromatin interactions |
| ENSG00000004487 | chromatin interactions |
| ENSG00000113141 | chromatin interactions |
| ENSG00000130707 | chromatin interactions |
| ENSG00000141378 | chromatin interactions |
| ENSG00000137073 | chromatin interactions |
| ENSG00000123358 | chromatin interactions |
| ENSG00000170727 | chromatin interactions |
| ENSG00000132623 | chromatin interactions |
| ENSG00000264052 | chromatin interactions |
| ENSG00000198113 | chromatin interactions |
| ENSG00000181013 | chromatin interactions |
| ENSG00000111775 | chromatin interactions |
| ENSG00000182919 | chromatin interactions |
| ENSG00000001630 | chromatin interactions |
| ENSG00000119414 | chromatin interactions |
| ENSG00000169564 | chromatin interactions |
| ENSG00000154719 | chromatin interactions |
| ENSG00000139116 | chromatin interactions |
| ENSG00000187013 | chromatin interactions |
| ENSG00000008513 | chromatin interactions |
| ENSG00000165501 | chromatin interactions |
| ENSG00000261135 | chromatin interactions |
| ENSG00000149792 | chromatin interactions |
| ENSG00000124784 | chromatin interactions |
| ENSG00000202538 | chromatin interactions |
| ENSG00000175727 | chromatin interactions |
| ENSG00000187266 | chromatin interactions |
| ENSG00000100906 | chromatin interactions |
| ENSG00000257341 | chromatin interactions |
| ENSG00000135392 | chromatin interactions |
| ENSG00000245149 | chromatin interactions |
| ENSG00000125148 | chromatin interactions |
| ENSG00000271991 | chromatin interactions |
| ENSG00000147123 | chromatin interactions |
| ENSG00000062725 | chromatin interactions |
| ENSG00000082701 | chromatin interactions |
| ENSG00000185633 | chromatin interactions |
| ENSG00000265455 | chromatin interactions |
| ENSG00000167747 | chromatin interactions |
| ENSG00000101213 | chromatin interactions |
| ENSG00000184270 | chromatin interactions |
| ENSG00000155903 | chromatin interactions |
| ENSG00000116514 | chromatin interactions |
| ENSG00000185298 | chromatin interactions |
| ENSG00000145494 | chromatin interactions |
| ENSG00000270049 | chromatin interactions |
| ENSG00000122512 | chromatin interactions |
| ENSG00000170836 | chromatin interactions |
| ENSG00000105656 | chromatin interactions |
| ENSG00000096384 | chromatin interactions |
| ENSG00000132313 | chromatin interactions |
| ENSG00000183735 | chromatin interactions |
| ENSG00000111707 | chromatin interactions |
| ENSG00000254402 | chromatin interactions |
| ENSG00000153485 | chromatin interactions |
| ENSG00000177764 | chromatin interactions |
| ENSG00000268230 | chromatin interactions |
| ENSG00000269363 | chromatin interactions |
| ENSG00000264063 | chromatin interactions |
| ENSG00000084092 | chromatin interactions |
| ENSG00000177426 | chromatin interactions |
| ENSG00000201806 | chromatin interactions |
| ENSG00000143942 | chromatin interactions |
| ENSG00000256018 | chromatin interactions |
| ENSG00000202077 | chromatin interactions |
| ENSG00000096401 | chromatin interactions |
| ENSG00000273049 | chromatin interactions |
| ENSG00000267727 | chromatin interactions |
| ENSG00000157837 | chromatin interactions |
| ENSG00000249494 | chromatin interactions |
| ENSG00000252560 | chromatin interactions |
| ENSG00000113360 | chromatin interactions |
| ENSG00000170881 | chromatin interactions |
| ENSG00000100219 | chromatin interactions |
| ENSG00000180573 | chromatin interactions |
| ENSG00000204568 | chromatin interactions |
| ENSG00000111780 | chromatin interactions |
| ENSG00000272173 | chromatin interactions |
| ENSG00000260919 | chromatin interactions |
| ENSG00000179818 | chromatin interactions |
| ENSG00000167553 | chromatin interactions |
| ENSG00000142227 | chromatin interactions |
| ENSG00000105479 | chromatin interactions |
| ENSG00000135241 | chromatin interactions |
| ENSG00000144802 | chromatin interactions |
| ENSG00000222821 | chromatin interactions |
| ENSG00000164402 | chromatin interactions |
| ENSG00000089154 | chromatin interactions |
| ENSG00000161179 | chromatin interactions |
| ENSG00000170855 | chromatin interactions |
| ENSG00000271899 | chromatin interactions |
| ENSG00000186312 | chromatin interactions |
| ENSG00000112245 | chromatin interactions |
| ENSG00000197763 | chromatin interactions |
| ENSG00000179523 | chromatin interactions |
| ENSG00000172262 | chromatin interactions |
| ENSG00000182796 | chromatin interactions |
| ENSG00000156471 | chromatin interactions |
| ENSG00000248008 | chromatin interactions |
| ENSG00000122971 | chromatin interactions |
| ENSG00000164304 | chromatin interactions |
| ENSG00000247315 | chromatin interactions |
| ENSG00000149925 | chromatin interactions |
| ENSG00000105778 | chromatin interactions |
| ENSG00000156831 | chromatin interactions |
| ENSG00000159176 | chromatin interactions |
| ENSG00000178096 | chromatin interactions |
| ENSG00000140043 | chromatin interactions |
| ENSG00000253459 | chromatin interactions |
| ENSG00000053501 | chromatin interactions |
| ENSG00000137880 | chromatin interactions |
| ENSG00000171223 | chromatin interactions |
| ENSG00000140740 | chromatin interactions |
| ENSG00000109920 | chromatin interactions |
| ENSG00000101182 | chromatin interactions |
| ENSG00000111325 | chromatin interactions |
| ENSG00000111678 | chromatin interactions |
| ENSG00000139641 | chromatin interactions |
| ENSG00000124688 | chromatin interactions |
| ENSG00000205542 | chromatin interactions |
| ENSG00000172531 | chromatin interactions |
| ENSG00000221521 | chromatin interactions |
| ENSG00000213145 | chromatin interactions |
| ENSG00000166965 | chromatin interactions |
| ENSG00000258056 | chromatin interactions |
| ENSG00000180694 | chromatin interactions |
| ENSG00000163918 | chromatin interactions |
| ENSG00000137168 | chromatin interactions |
| ENSG00000110871 | chromatin interactions |
| ENSG00000251889 | chromatin interactions |
| ENSG00000068885 | chromatin interactions |
| ENSG00000182648 | chromatin interactions |
| ENSG00000204576 | chromatin interactions |
| ENSG00000148356 | chromatin interactions |
| ENSG00000258653 | chromatin interactions |
| ENSG00000266173 | chromatin interactions |
| ENSG00000117906 | chromatin interactions |
| ENSG00000120709 | chromatin interactions |
| ENSG00000105926 | chromatin interactions |
| ENSG00000263913 | chromatin interactions |
| ENSG00000183891 | chromatin interactions |
| ENSG00000171988 | chromatin interactions |
| ENSG00000200795 | chromatin interactions |
| ENSG00000162006 | chromatin interactions |
| ENSG00000229980 | chromatin interactions |
| ENSG00000163660 | chromatin interactions |
| ENSG00000168488 | chromatin interactions |
| ENSG00000075399 | chromatin interactions |
| ENSG00000166012 | chromatin interactions |
| ENSG00000125534 | chromatin interactions |
| ENSG00000267280 | chromatin interactions |
| ENSG00000137767 | chromatin interactions |
| ENSG00000105722 | chromatin interactions |
| ENSG00000110700 | chromatin interactions |
| ENSG00000138430 | chromatin interactions |
| ENSG00000188693 | chromatin interactions |
| ENSG00000267212 | chromatin interactions |
| ENSG00000205795 | chromatin interactions |
| ENSG00000136059 | chromatin interactions |
| ENSG00000150753 | chromatin interactions |
| ENSG00000202339 | chromatin interactions |
| ENSG00000186716 | chromatin interactions |
| ENSG00000175482 | chromatin interactions |
| ENSG00000263583 | chromatin interactions |
| ENSG00000127824 | chromatin interactions |
| ENSG00000160678 | chromatin interactions |
| ENSG00000212195 | chromatin interactions |
| ENSG00000155846 | chromatin interactions |
| ENSG00000222894 | chromatin interactions |
| ENSG00000124151 | chromatin interactions |
| ENSG00000266402 | chromatin interactions |
| ENSG00000105699 | chromatin interactions |
| ENSG00000223247 | chromatin interactions |
| ENSG00000160957 | chromatin interactions |
| ENSG00000088986 | chromatin interactions |
| ENSG00000087086 | chromatin interactions |
| ENSG00000136492 | chromatin interactions |
| ENSG00000102780 | chromatin interactions |
| ENSG00000168374 | chromatin interactions |
| ENSG00000258890 | chromatin interactions |
| ENSG00000203593 | chromatin interactions |
| ENSG00000189171 | chromatin interactions |
| ENSG00000177189 | chromatin interactions |
| ENSG00000106330 | chromatin interactions |
| ENSG00000131495 | chromatin interactions |
| ENSG00000232810 | chromatin interactions |
| ENSG00000255857 | chromatin interactions |
| ENSG00000182500 | chromatin interactions |
| ENSG00000243910 | chromatin interactions |
| ENSG00000108423 | chromatin interactions |
| ENSG00000150991 | chromatin interactions |
| ENSG00000170345 | chromatin interactions |
| ENSG00000258017 | chromatin interactions |
| ENSG00000166477 | chromatin interactions |
| ENSG00000177000 | chromatin interactions |
| ENSG00000132570 | chromatin interactions |
| ENSG00000111737 | chromatin interactions |
| ENSG00000111725 | chromatin interactions |
| ENSG00000135127 | chromatin interactions |
| ENSG00000158402 | chromatin interactions |
| ENSG00000149932 | chromatin interactions |
| ENSG00000232559 | chromatin interactions |
| ENSG00000009954 | chromatin interactions |
| ENSG00000182872 | chromatin interactions |
| ENSG00000139726 | chromatin interactions |
| ENSG00000064995 | chromatin interactions |
| ENSG00000272686 | chromatin interactions |
| ENSG00000115875 | chromatin interactions |
| ENSG00000108654 | chromatin interactions |
| ENSG00000014914 | chromatin interactions |
| ENSG00000111653 | chromatin interactions |
| ENSG00000267580 | chromatin interactions |
| ENSG00000088451 | chromatin interactions |
| ENSG00000264462 | chromatin interactions |
| ENSG00000213741 | chromatin interactions |
| ENSG00000170890 | chromatin interactions |
| ENSG00000127838 | chromatin interactions |
| ENSG00000159445 | chromatin interactions |
| ENSG00000260657 | chromatin interactions |
| ENSG00000204569 | chromatin interactions |
| ENSG00000145414 | chromatin interactions |
| ENSG00000184260 | chromatin interactions |
| ENSG00000222750 | chromatin interactions |
| ENSG00000150967 | chromatin interactions |
| ENSG00000108443 | chromatin interactions |
| ENSG00000249915 | chromatin interactions |
| ENSG00000027847 | chromatin interactions |
| ENSG00000149923 | chromatin interactions |
| ENSG00000123416 | chromatin interactions |
| ENSG00000248636 | chromatin interactions |
| ENSG00000086712 | chromatin interactions |
| ENSG00000135913 | chromatin interactions |
| ENSG00000184402 | chromatin interactions |
| ENSG00000170909 | chromatin interactions |
| ENSG00000162191 | chromatin interactions |
| ENSG00000242110 | chromatin interactions |
| ENSG00000201628 | chromatin interactions |
| ENSG00000224536 | chromatin interactions |
| ENSG00000204592 | chromatin interactions |
| ENSG00000175602 | chromatin interactions |
| ENSG00000173653 | chromatin interactions |
| ENSG00000143933 | chromatin interactions |
| ENSG00000129514 | chromatin interactions |
| ENSG00000264624 | chromatin interactions |
| ENSG00000110917 | chromatin interactions |
| ENSG00000164961 | chromatin interactions |
| ENSG00000109046 | chromatin interactions |
| ENSG00000240925 | chromatin interactions |
| ENSG00000252659 | chromatin interactions |
| ENSG00000170421 | chromatin interactions |
| ENSG00000142178 | chromatin interactions |
| ENSG00000204220 | chromatin interactions |
| ENSG00000113300 | chromatin interactions |
| ENSG00000140320 | chromatin interactions |
| ENSG00000092931 | chromatin interactions |
| ENSG00000256028 | chromatin interactions |
| ENSG00000204070 | chromatin interactions |
| ENSG00000226308 | chromatin interactions |
| ENSG00000166716 | chromatin interactions |
| ENSG00000049618 | chromatin interactions |
| ENSG00000160182 | chromatin interactions |
| ENSG00000204580 | chromatin interactions |
| ENSG00000273063 | chromatin interactions |
| ENSG00000254806 | chromatin interactions |
| ENSG00000131023 | chromatin interactions |
| ENSG00000160209 | chromatin interactions |
| ENSG00000203499 | chromatin interactions |
| ENSG00000152147 | chromatin interactions |
| ENSG00000266704 | chromatin interactions |
| ENSG00000201164 | chromatin interactions |
| ENSG00000101132 | chromatin interactions |
| ENSG00000209042 | chromatin interactions |
| ENSG00000206652 | chromatin interactions |
| ENSG00000170889 | chromatin interactions |
| ENSG00000123009 | chromatin interactions |
| ENSG00000122550 | chromatin interactions |
| ENSG00000164070 | chromatin interactions |
| ENSG00000227057 | chromatin interactions |
| ENSG00000112658 | chromatin interactions |
| ENSG00000153956 | chromatin interactions |
| ENSG00000135404 | chromatin interactions |
| ENSG00000165943 | chromatin interactions |
| ENSG00000237441 | chromatin interactions |
| ENSG00000171421 | chromatin interactions |
| ENSG00000159720 | chromatin interactions |
| ENSG00000100299 | chromatin interactions |
| ENSG00000101144 | chromatin interactions |
| ENSG00000138138 | chromatin interactions |
| ENSG00000199709 | chromatin interactions |
| ENSG00000272160 | chromatin interactions |
| ENSG00000171940 | chromatin interactions |
| ENSG00000213137 | chromatin interactions |
| ENSG00000112378 | chromatin interactions |
| ENSG00000200889 | chromatin interactions |
| ENSG00000169609 | chromatin interactions |
| ENSG00000089157 | chromatin interactions |
| ENSG00000198931 | chromatin interactions |
| ENSG00000160087 | chromatin interactions |
| ENSG00000147403 | chromatin interactions |
| ENSG00000117036 | chromatin interactions |
| ENSG00000073670 | chromatin interactions |
| ENSG00000140612 | chromatin interactions |
| ENSG00000145743 | chromatin interactions |
| ENSG00000111912 | chromatin interactions |
| ENSG00000112624 | chromatin interactions |
| ENSG00000179862 | chromatin interactions |
| ENSG00000252974 | chromatin interactions |
| ENSG00000251151 | chromatin interactions |
| ENSG00000230658 | chromatin interactions |
| ENSG00000082213 | chromatin interactions |
| ENSG00000163811 | chromatin interactions |
| ENSG00000231119 | chromatin interactions |
| ENSG00000135605 | chromatin interactions |
| ENSG00000241127 | chromatin interactions |
| ENSG00000229474 | chromatin interactions |
| ENSG00000106355 | chromatin interactions |
| ENSG00000269054 | chromatin interactions |
| ENSG00000101624 | chromatin interactions |
| ENSG00000206737 | chromatin interactions |
| ENSG00000104131 | chromatin interactions |
| ENSG00000188825 | chromatin interactions |
| ENSG00000126903 | chromatin interactions |
| ENSG00000120129 | chromatin interactions |
| ENSG00000130985 | chromatin interactions |
| ENSG00000256008 | chromatin interactions |
| ENSG00000272114 | chromatin interactions |
| ENSG00000111669 | chromatin interactions |
| ENSG00000187514 | chromatin interactions |
| ENSG00000023572 | chromatin interactions |
| ENSG00000133316 | chromatin interactions |
| ENSG00000011021 | chromatin interactions |
| ENSG00000223820 | chromatin interactions |
| ENSG00000196396 | chromatin interactions |
| ENSG00000219410 | chromatin interactions |
| ENSG00000158486 | chromatin interactions |
| ENSG00000199753 | chromatin interactions |
| ENSG00000107147 | chromatin interactions |
| ENSG00000048392 | chromatin interactions |
| ENSG00000115137 | chromatin interactions |
| ENSG00000201801 | chromatin interactions |
| ENSG00000226471 | chromatin interactions |
| ENSG00000101146 | chromatin interactions |
| ENSG00000243678 | chromatin interactions |
| ENSG00000170906 | chromatin interactions |
| ENSG00000181789 | chromatin interactions |
| ENSG00000230454 | chromatin interactions |
| ENSG00000145912 | chromatin interactions |
| ENSG00000163399 | chromatin interactions |
| ENSG00000166710 | chromatin interactions |
| ENSG00000184584 | chromatin interactions |
| ENSG00000172869 | chromatin interactions |
| ENSG00000106299 | chromatin interactions |
| ENSG00000089163 | chromatin interactions |
| ENSG00000089159 | chromatin interactions |
| ENSG00000149806 | chromatin interactions |
| ENSG00000261373 | chromatin interactions |
| ENSG00000085760 | chromatin interactions |
| ENSG00000135097 | chromatin interactions |
| ENSG00000239881 | chromatin interactions |
| ENSG00000238923 | chromatin interactions |
| ENSG00000139725 | chromatin interactions |
| ENSG00000111786 | chromatin interactions |
| ENSG00000104936 | chromatin interactions |
| ENSG00000115970 | chromatin interactions |
| ENSG00000201524 | chromatin interactions |
| ENSG00000104472 | chromatin interactions |
| ENSG00000258496 | chromatin interactions |
| ENSG00000124782 | chromatin interactions |
| ENSG00000204444 | chromatin interactions |
| ENSG00000173349 | chromatin interactions |
| ENSG00000143786 | chromatin interactions |
| ENSG00000201184 | chromatin interactions |
| ENSG00000105982 | chromatin interactions |
| ENSG00000271843 | chromatin interactions |
| ENSG00000136280 | chromatin interactions |
| ENSG00000168209 | chromatin interactions |
| ENSG00000161547 | chromatin interactions |
| ENSG00000157107 | chromatin interactions |
| ENSG00000236794 | chromatin interactions |
| ENSG00000132819 | chromatin interactions |
| ENSG00000267395 | chromatin interactions |
| ENSG00000112715 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs1151832 | chr12:120695141-120695142 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs141083275 | chr12:120695154-120695155 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 3 | rs558550863 | chr12:120695188-120695189 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 4 | rs114313934 | chr12:120695197-120695198 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 5 | rs576400991 | chr12:120695204-120695205 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 6 | rs150140736 | chr12:120695208-120695209 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 7 | rs565063822 | chr12:120695209-120695210 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 8 | rs527456933 | chr12:120695230-120695231 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 9 | rs2238157 | chr12:120695248-120695249 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs560926392 | chr12:120695260-120695261 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 11 | rs529819499 | chr12:120695261-120695262 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 12 | rs549657814 | chr12:120695264-120695265 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 13 | rs569624920 | chr12:120695298-120695299 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 14 | rs145545309 | chr12:120695336-120695337 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 15 | rs552028834 | chr12:120695360-120695361 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 16 | rs369042226 | chr12:120695371-120695372 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 17 | rs554302628 | chr12:120695380-120695381 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 18 | rs115444456 | chr12:120695452-120695453 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 19 | rs547587873 | chr12:120695504-120695505 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 20 | rs567566492 | chr12:120695582-120695583 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 21 | rs536336208 | chr12:120695587-120695588 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 22 | rs148874683 | chr12:120695668-120695669 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 23 | rs188690647 | chr12:120695680-120695681 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 24 | rs576361243 | chr12:120695684-120695685 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 25 | rs111624932 | chr12:120695685-120695686 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 26 | rs192831317 | chr12:120695698-120695699 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 27 | rs547021106 | chr12:120695724-120695725 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 28 | rs1151833 | chr12:120695760-120695761 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs376720555 | chr12:120695767-120695768 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 30 | rs574727803 | chr12:120695770-120695771 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 31 | rs566834360 | chr12:120695771-120695772 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 32 | rs532098100 | chr12:120695787-120695788 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 33 | rs558730579 | chr12:120695821-120695822 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 34 | rs560179701 | chr12:120695848-120695849 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 35 | rs565190907 | chr12:120695868-120695869 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 36 | rs527974784 | chr12:120695884-120695885 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 37 | rs547723746 | chr12:120695889-120695890 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 38 | rs567502388 | chr12:120695957-120695958 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 39 | rs536470976 | chr12:120695965-120695966 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 40 | rs372476928 | chr12:120695995-120695996 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 41 | rs35240186 | chr12:120695996-120695997 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 42 | rs532473330 | chr12:120696028-120696029 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 43 | rs576966273 | chr12:120696154-120696155 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 44 | rs550217679 | chr12:120696235-120696236 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 45 | rs80002113 | chr12:120696240-120696241 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 46 | rs35871332 | chr12:120696245-120696246 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 47 | rs538985498 | chr12:120696329-120696330 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 48 | rs76949599 | chr12:120696349-120696350 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 49 | rs572520948 | chr12:120696408-120696409 | Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 50 | rs376956227 | chr12:120696419-120696420 | Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| Disease | PMID | Source |
|---|---|---|
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Cancer | 16751803 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Schizophrenia | 18923514 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Cryptorchidism | 21048976 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Beckwith-Wiedemann syndrome | 20648245 | CNVD |
| Developmental delay | 21457577 | CNVD |
| dysmorphic | 21457577 | CNVD |
| Autism | 20841430 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Chordoma | 18071362 | CNVD |
| Melanoma | 20877625 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:120676400-120699400 | Weak transcription | Aorta | Aorta |
| 2 | chr12:120683200-120695200 | Weak transcription | Fetal Brain Male | brain |
| 3 | chr12:120686000-120700200 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 4 | chr12:120688000-120695200 | Weak transcription | Gastric | stomach |
| 5 | chr12:120688600-120700200 | Weak transcription | Fetal Kidney | kidney |
| 6 | chr12:120690400-120695200 | Weak transcription | HSMMtube | muscle |
| 7 | chr12:120690400-120697800 | Weak transcription | Colonic Mucosa | Colon |
| 8 | chr12:120690400-120700400 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
| 9 | chr12:120690600-120695200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 10 | chr12:120691000-120695200 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 11 | chr12:120691600-120696200 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
| 12 | chr12:120691600-120699800 | Enhancers | Primary T helper cells fromperipheralblood | blood |
| 13 | chr12:120691800-120699800 | Genic enhancers | Primary Natural Killer cells fromperipheralblood | blood |
| 14 | chr12:120692200-120697400 | Enhancers | Adipose Nuclei | Adipose |
| 15 | chr12:120692400-120697200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 16 | chr12:120692400-120700000 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 17 | chr12:120692800-120695200 | Genic enhancers | Primary T cells fromperipheralblood | blood |
| 18 | chr12:120692800-120696400 | Enhancers | Left Ventricle | heart |
| 19 | chr12:120692800-120697400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 20 | chr12:120693000-120698000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 21 | chr12:120693200-120696400 | Genic enhancers | Monocytes-CD14+_RO01746 | blood |
| 22 | chr12:120693200-120698400 | Enhancers | HUVEC | blood vessel |
| 23 | chr12:120693200-120699600 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
| 24 | chr12:120693200-120699600 | Weak transcription | Fetal Thymus | thymus |
| 25 | chr12:120693200-120700000 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 26 | chr12:120693200-120700000 | Enhancers | Primary monocytes fromperipheralblood | blood |
| 27 | chr12:120693200-120700000 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
| 28 | chr12:120693200-120700800 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 29 | chr12:120693400-120695200 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 30 | chr12:120693400-120699400 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
| 31 | chr12:120694000-120695600 | Genic enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 32 | chr12:120694000-120695600 | Flanking Active TSS | Stomach Smooth Muscle | stomach |
| 33 | chr12:120694000-120696000 | Enhancers | Fetal Muscle Leg | muscle |
| 34 | chr12:120694000-120696000 | Genic enhancers | NHEK | skin |
| 35 | chr12:120694000-120696200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 36 | chr12:120694000-120696400 | Transcr. at gene 5' and 3' | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 37 | chr12:120694000-120696400 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
| 38 | chr12:120694000-120696400 | Enhancers | Right Ventricle | heart |
| 39 | chr12:120694000-120696600 | Enhancers | Brain Substantia Nigra | brain |
| 40 | chr12:120694000-120696600 | Enhancers | Right Atrium | heart |
| 41 | chr12:120694000-120696800 | Enhancers | Lung | lung |
| 42 | chr12:120694000-120697600 | Enhancers | Primary T cells from cord blood | blood |
| 43 | chr12:120694000-120697600 | Enhancers | Fetal Muscle Trunk | muscle |
| 44 | chr12:120694000-120697800 | Enhancers | NHLF | lung |
| 45 | chr12:120694000-120698400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 46 | chr12:120694000-120699600 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
| 47 | chr12:120694000-120699800 | Enhancers | Skeletal Muscle Female | skeletal muscle |
| 48 | chr12:120694000-120700400 | Enhancers | Primary T killer naive cells fromperipheralblood | blood |
| 49 | chr12:120694200-120696200 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 50 | chr12:120694200-120696200 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |






