Variant report
| Variant | rs7311566 |
|---|---|
| Chromosome Location | chr12:120729756-120729757 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:619)
- CpG islands (count:61)
- Chromatin interactive region (count:330)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr12:120729078-120731508 | K562 | blood: | n/a | n/a |
| 2 | BACH1 | chr12:120728588-120730182 | K562 | blood: | n/a | n/a |
| 3 | TAF7 | chr12:120728675-120731670 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 4 | JUND | chr12:120728718-120731221 | A549 | lung: | n/a | chr12:120729940-120729949 chr12:120729726-120729735 |
| 5 | GATA2 | chr12:120729204-120729803 | K562 | blood: | n/a | n/a |
| 6 | POLR2A | chr12:120729232-120730148 | K562 | blood: | n/a | n/a |
| 7 | POLR2A | chr12:120728945-120730285 | H1-neurons | neurons: | n/a | n/a |
| 8 | 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 |
| 9 | MAZ | chr12:120729125-120730273 | K562 | blood: | n/a | n/a |
| 10 | PBX3 | chr12:120728877-120730280 | SK-N-SH | brain: | n/a | chr12:120729422-120729433 |
| 11 | POLR2A | chr12:120728692-120731184 | GM12891 | blood: | n/a | n/a |
| 12 | YY1 | chr12:120729177-120730124 | HCT-116 | colon: | n/a | chr12:120729725-120729736 |
| 13 | ELF1 | chr12:120729439-120730325 | GM12878 | blood: | n/a | n/a |
| 14 | ZBTB33 | chr12:120729109-120729957 | HCT-116 | colon: | n/a | n/a |
| 15 | ETS1 | chr12:120728576-120730203 | A549 | lung: | n/a | n/a |
| 16 | BHLHE40 | chr12:120729225-120730295 | K562 | blood: | n/a | n/a |
| 17 | MAX | chr12:120729153-120730289 | SK-N-SH | brain: | n/a | n/a |
| 18 | EP300 | chr12:120729131-120730213 | GM12878 | blood: | n/a | n/a |
| 19 | POLR2A | chr12:120728616-120731421 | PFSK-1 | brain: | n/a | n/a |
| 20 | POLR2A | chr12:120728550-120731470 | Hela-S3 | cervix: | n/a | n/a |
| 21 | MXI1 | chr12:120729220-120730125 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 22 | JUND | chr12:120728728-120730265 | Hela-S3 | cervix: | n/a | chr12:120729940-120729949 chr12:120729726-120729735 |
| 23 | JUN | chr12:120729227-120730098 | H1-hESC | embryonic stem cell: | n/a | chr12:120729940-120729949 chr12:120729726-120729735 chr12:120729936-120729949 |
| 24 | EGR1 | chr12:120729108-120729943 | K562 | blood: | n/a | n/a |
| 25 | USF1 | chr12:120729085-120730204 | A549 | lung: | n/a | n/a |
| 26 | RELA | chr12:120729173-120730079 | GM19193 | blood: | n/a | n/a |
| 27 | HNF4A | chr12:120729363-120729779 | HepG2 | liver: | n/a | n/a |
| 28 | ELF1 | chr12:120728998-120731354 | GM12878 | blood: | n/a | n/a |
| 29 | BATF | chr12:120729114-120729881 | GM12878 | blood: | n/a | n/a |
| 30 | TAF1 | chr12:120729516-120730176 | K562 | blood: | n/a | n/a |
| 31 | POLR2A | chr12:120729002-120731295 | GM12878 | blood: | n/a | n/a |
| 32 | PAX5 | chr12:120728991-120730196 | GM12878 | blood: | n/a | chr12:120729286-120729295 |
| 33 | CEBPD | chr12:120729259-120730181 | HepG2 | liver: | n/a | n/a |
| 34 | POLR2A | chr12:120729131-120731229 | Hela-S3 | cervix: | n/a | n/a |
| 35 | POLR2A | chr12:120729095-120730212 | HepG2 | liver: | n/a | n/a |
| 36 | MEF2A | chr12:120729041-120729923 | GM12878 | blood: | n/a | chr12:120729231-120729246 |
| 37 | MEF2C | chr12:120729247-120729826 | GM12878 | blood: | n/a | n/a |
| 38 | 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 |
| 39 | BRCA1 | chr12:120729258-120730127 | HepG2 | liver: | n/a | n/a |
| 40 | RCOR1 | chr12:120729184-120730261 | HepG2 | liver: | n/a | n/a |
| 41 | ZNF143 | chr12:120729326-120730170 | GM12878 | blood: | n/a | chr12:120729906-120729925 |
| 42 | ELF1 | chr12:120729090-120730214 | SK-N-SH | brain: | n/a | n/a |
| 43 | SIN3AK20 | chr12:120729287-120729857 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 44 | CCNT2 | chr12:120729222-120730135 | K562 | blood: | n/a | n/a |
| 45 | EP300 | chr12:120729326-120729894 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 46 | 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 |
| 47 | CTCF | chr12:120729649-120729888 | GM12878 | blood: | n/a | n/a |
| 48 | SIN3AK20 | chr12:120729305-120729806 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 49 | POLR2A | chr12:120728761-120731370 | HUVEC | blood vessel: | n/a | n/a |
| 50 | SRF | chr12:120729328-120729783 | HepG2 | liver: | n/a | n/a |
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:120729728-120729778 | NHDF-neo | bronchial: | n/a |
| 2 | chr12:120729728-120729778 | ProgFib | skin: | n/a |
| 3 | chr12:120729728-120729778 | Hela-S3 | cervix: | n/a |
| 4 | chr12:120729728-120729778 | NB4 | blood: | n/a |
| 5 | chr12:120729728-120729778 | HMEC | breast: | n/a |
| 6 | chr12:120729728-120729778 | HEK293 | kidney: | embryo |
| 7 | chr12:120729728-120729778 | NT2-D1 | testis: | n/a |
| 8 | chr12:120729728-120729778 | HAEpiC | amniotic membrane: | n/a |
| 9 | chr12:120729728-120729778 | RPTEC | kidney: | n/a |
| 10 | chr12:120729728-120729778 | GM06990 | blood: | n/a |
| 11 | chr12:120729728-120729778 | PrEC | prostate: | n/a |
| 12 | chr12:120729728-120729778 | GM12891 | blood: | n/a |
| 13 | chr12:120729728-120729778 | HRE | kidney: | n/a |
| 14 | chr12:120729728-120729778 | H1-hESC | embryonic stem cell: | embryo |
| 15 | chr12:120729728-120729778 | MCF10A-Er-Src | breast: | n/a |
| 16 | chr12:120729728-120729778 | HPAEpiC | pulmonary alveolar: | n/a |
| 17 | chr12:120729728-120729778 | A549 | lung: | n/a |
| 18 | chr12:120729728-120729778 | Jurkat | blood: | n/a |
| 19 | chr12:120729728-120729778 | GM12892 | blood: | n/a |
| 20 | chr12:120729728-120729778 | CMK | blood: | n/a |
| 21 | chr12:120729728-120729778 | IMR90 | lung: | fetal |
| 22 | chr12:120729728-120729778 | PFSK-1 | brain: | n/a |
| 23 | chr12:120729728-120729778 | HCF | heart: | n/a |
| 24 | chr12:120729728-120729778 | U87 | brain: | n/a |
| 25 | chr12:120729728-120729778 | NHBE | bronchial: | n/a |
| 26 | chr12:120729728-120729778 | AoSMC | blood vessel: | n/a |
| 27 | chr12:120729728-120729778 | BJ | skin: | n/a |
| 28 | chr12:120729728-120729778 | HRCEpiC | kidney: | n/a |
| 29 | chr12:120729728-120729778 | HepG2 | liver: | n/a |
| 30 | chr12:120729728-120729778 | BE2_C | brain: | n/a |
| 31 | chr12:120729728-120729778 | AG09309 | skin: | n/a |
| 32 | chr12:120729728-120729778 | HRPEpiC | eye: | n/a |
| 33 | chr12:120729728-120729778 | T-47D | breast: | n/a |
| 34 | chr12:120729728-120729778 | HL-60 | blood: | n/a |
| 35 | chr12:120729728-120729778 | HCT-116 | colon: | n/a |
| 36 | chr12:120729728-120729778 | SK-N-MC | brain: | n/a |
| 37 | chr12:120729728-120729778 | HIPEpiC | eye: | n/a |
| 38 | chr12:120729728-120729778 | K562 | blood: | n/a |
| 39 | chr12:120729728-120729778 | AG04449 | skin: | fetal |
| 40 | chr12:120729728-120729778 | HCM | heart: | n/a |
| 41 | chr12:120729728-120729778 | SAEC | small airway: | n/a |
| 42 | chr12:120729728-120729778 | ovcar-3 | ovarian: | n/a |
| 43 | chr12:120729728-120729778 | PANC-1 | pancreas: | n/a |
| 44 | chr12:120729728-120729778 | AG04450 | lung: | fetal |
| 45 | chr12:120729728-120729778 | HCPEpiC | choroid plexus: | n/a |
| 46 | chr12:120729728-120729778 | AG10803 | skin: | n/a |
| 47 | chr12:120729728-120729778 | SKMC | muscle: | n/a |
| 48 | chr12:120729728-120729778 | SK-N-SH | brain: | n/a |
| 49 | chr12:120729728-120729778 | Caco-2 | colon: | n/a |
| 50 | chr12:120729728-120729778 | HUVEC | blood vessel: | n/a |
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:44508536..44511215-chr12:120729558..120732284,2 | MCF-7 | breast: | |
| 2 | chr12:120424138..120428272-chr12:120728453..120731316,5 | K562 | blood: | |
| 3 | chr12:120729263..120729953-chr2:48567408..48568402,2 | Hela-S3 | cervix: | |
| 4 | chr12:120729385..120730011-chr2:25194674..25195611,2 | Hela-S3 | cervix: | |
| 5 | chr1:116914899..116917203-chr12:120728058..120730757,2 | MCF-7 | breast: | |
| 6 | chr12:120727871..120730309-chr20:46130570..46132928,2 | MCF-7 | breast: | |
| 7 | chr12:120529252..120531739-chr12:120728322..120731564,3 | MCF-7 | breast: | |
| 8 | chr12:120727954..120730801-chr14:35872614..35874723,2 | MCF-7 | breast: | |
| 9 | chr12:120729331..120729856-chr7:23145100..23145844,2 | HCT-116 | colon: | |
| 10 | chr12:120426620..120429059-chr12:120727400..120730169,3 | MCF-7 | breast: | |
| 11 | chr12:120729288..120730125-chrX:16804114..16804834,2 | Hela-S3 | cervix: | |
| 12 | chr12:120685626..120692224-chr12:120727115..120732105,16 | K562 | blood: | |
| 13 | chr12:120729387..120731467-chr6:13710748..13713061,2 | MCF-7 | breast: | |
| 14 | chr12:120729209..120731364-chr8:145751583..145753528,2 | MCF-7 | breast: | |
| 15 | chr12:120729234..120729869-chr17:49243719..49244246,2 | NB4 | blood: | |
| 16 | chr12:120728918..120730847-chr4:164086639..164088753,2 | MCF-7 | breast: | |
| 17 | chr12:120729741..120733145-chr17:56707476..56710505,4 | MCF-7 | breast: | |
| 18 | chr12:120729250..120730010-chr22:51066521..51067242,2 | NB4 | blood: | |
| 19 | chr12:120729544..120730458-chr14:93650988..93651542,2 | Hela-S3 | cervix: | |
| 20 | chr12:120729283..120730124-chr5:107716642..107717534,2 | Hela-S3 | cervix: | |
| 21 | chr12:120606014..120608808-chr12:120727801..120732027,4 | MCF-7 | breast: | |
| 22 | chr12:120646880..120656528-chr12:120726067..120732546,19 | K562 | blood: | |
| 23 | chr12:120729269..120732334-chr12:120971435..120974602,3 | K562 | blood: | |
| 24 | chr12:120729175..120732150-chr15:52245837..52248186,2 | MCF-7 | breast: | |
| 25 | chr12:120728435..120730638-chr20:55926255..55929139,2 | MCF-7 | breast: | |
| 26 | chr12:120729488..120730036-chr6:7389750..7390446,2 | Hela-S3 | cervix: | |
| 27 | chr12:120729277..120729973-chr15:41055717..41056485,2 | Hela-S3 | cervix: | |
| 28 | chr12:120728477..120731826-chr12:120874371..120876435,3 | K562 | blood: | |
| 29 | chr12:120727832..120730785-chr19:46272867..46274932,2 | MCF-7 | breast: | |
| 30 | chr12:53298468..53299056-chr12:120729398..120729940,2 | MCF-7 | breast: | |
| 31 | chr12:120727751..120732241-chr12:120903536..120914205,12 | MCF-7 | breast: | |
| 32 | chr12:120729003..120729942-chr19:17326142..17326831,2 | Hela-S3 | cervix: | |
| 33 | chr12:120615329..120617657-chr12:120728352..120730114,2 | MCF-7 | breast: | |
| 34 | chr12:120727828..120730967-chr20:60717527..60719045,4 | K562 | blood: | |
| 35 | chr12:120729489..120730024-chr6:26270913..26271796,2 | Hela-S3 | cervix: | |
| 36 | chr12:120729413..120729927-chr7:123388749..123389671,2 | Hela-S3 | cervix: | |
| 37 | chr12:120728045..120729780-chr17:59472665..59474429,2 | MCF-7 | breast: | |
| 38 | chr12:120729232..120730736-chr19:18631698..18634072,2 | MCF-7 | breast: | |
| 39 | chr1:36867858..36868836-chr12:120729276..120729941,3 | Hela-S3 | cervix: | |
| 40 | chr12:120728080..120732301-chr12:120874297..120877936,6 | K562 | blood: | |
| 41 | chr12:120728284..120730312-chr12:120764275..120767434,3 | K562 | blood: | |
| 42 | chr10:89577213..89577931-chr12:120729063..120729972,2 | HCT-116 | colon: | |
| 43 | chr12:120728900..120729827-chrX:153718923..153719426,2 | MCF-7 | breast: | |
| 44 | chr12:112846897..112847434-chr12:120729258..120729819,2 | NB4 | blood: | |
| 45 | chr12:120729256..120730135-chr14:75746268..75746938,2 | Hela-S3 | cervix: | |
| 46 | chr12:120729218..120729841-chr7:108166147..108166820,2 | Hela-S3 | cervix: | |
| 47 | chr1:41327575..41328153-chr12:120729404..120730312,2 | Hela-S3 | cervix: | |
| 48 | chr12:120729532..120730152-chr20:49126494..49127073,2 | Hela-S3 | cervix: | |
| 49 | chr12:120729370..120729886-chr5:271669..272321,2 | Hela-S3 | cervix: | |
| 50 | chr12:120729303..120730037-chr8:97273744..97274372,2 | HCT-116 | colon: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RNU4-2 | TF binding region |
| RNU4-2 | CpG island |
| ENSG00000265455 | Chromatin interaction |
| ENSG00000164402 | Chromatin interaction |
| ENSG00000101624 | Chromatin interaction |
| ENSG00000111669 | Chromatin interaction |
| ENSG00000082213 | Chromatin interaction |
| ENSG00000088451 | Chromatin interaction |
| ENSG00000160957 | Chromatin interaction |
| ENSG00000272081 | Chromatin interaction |
| ENSG00000159720 | Chromatin interaction |
| ENSG00000268230 | Chromatin interaction |
| ENSG00000213145 | Chromatin interaction |
| ENSG00000226471 | Chromatin interaction |
| ENSG00000263583 | Chromatin interaction |
| ENSG00000266680 | Chromatin interaction |
| ENSG00000125148 | Chromatin interaction |
| ENSG00000164304 | Chromatin interaction |
| ENSG00000200889 | Chromatin interaction |
| ENSG00000249494 | Chromatin interaction |
| ENSG00000119414 | Chromatin interaction |
| ENSG00000255857 | Chromatin interaction |
| ENSG00000170906 | Chromatin interaction |
| ENSG00000096401 | Chromatin interaction |
| ENSG00000104936 | Chromatin interaction |
| ENSG00000108443 | Chromatin interaction |
| ENSG00000264063 | Chromatin interaction |
| ENSG00000204576 | Chromatin interaction |
| ENSG00000101132 | Chromatin interaction |
| ENSG00000222821 | Chromatin interaction |
| ENSG00000186716 | Chromatin interaction |
| ENSG00000272173 | Chromatin interaction |
| ENSG00000106330 | Chromatin interaction |
| ENSG00000113141 | Chromatin interaction |
| ENSG00000149932 | Chromatin interaction |
| ENSG00000145494 | Chromatin interaction |
| ENSG00000105479 | Chromatin interaction |
| ENSG00000167733 | Chromatin interaction |
| ENSG00000139725 | Chromatin interaction |
| ENSG00000165501 | Chromatin interaction |
| ENSG00000201164 | Chromatin interaction |
| ENSG00000089009 | Chromatin interaction |
| ENSG00000100243 | Chromatin interaction |
| ENSG00000204220 | Chromatin interaction |
| ENSG00000253459 | Chromatin interaction |
| ENSG00000197958 | Chromatin interaction |
| ENSG00000237441 | Chromatin interaction |
| ENSG00000212195 | Chromatin interaction |
| ENSG00000273063 | Chromatin interaction |
| ENSG00000113810 | Chromatin interaction |
| ENSG00000168374 | Chromatin interaction |
| ENSG00000022840 | Chromatin interaction |
| ENSG00000256018 | Chromatin interaction |
| ENSG00000201524 | Chromatin interaction |
| ENSG00000106299 | Chromatin interaction |
| ENSG00000172531 | Chromatin interaction |
| ENSG00000252560 | Chromatin interaction |
| ENSG00000101146 | Chromatin interaction |
| ENSG00000205795 | Chromatin interaction |
| ENSG00000204444 | Chromatin interaction |
| ENSG00000136492 | Chromatin interaction |
| ENSG00000203593 | Chromatin interaction |
| ENSG00000226308 | Chromatin interaction |
| ENSG00000257341 | Chromatin interaction |
| ENSG00000139641 | Chromatin interaction |
| ENSG00000230615 | Chromatin interaction |
| ENSG00000203499 | Chromatin interaction |
| ENSG00000117906 | Chromatin interaction |
| ENSG00000222894 | Chromatin interaction |
| ENSG00000157837 | Chromatin interaction |
| ENSG00000004487 | Chromatin interaction |
| ENSG00000163399 | Chromatin interaction |
| ENSG00000111780 | Chromatin interaction |
| ENSG00000239881 | Chromatin interaction |
| ENSG00000258496 | Chromatin interaction |
| ENSG00000271991 | Chromatin interaction |
| ENSG00000125534 | Chromatin interaction |
| ENSG00000271899 | Chromatin interaction |
| ENSG00000189171 | Chromatin interaction |
| ENSG00000182796 | Chromatin interaction |
| ENSG00000168488 | Chromatin interaction |
| ENSG00000101144 | Chromatin interaction |
| ENSG00000261373 | Chromatin interaction |
| ENSG00000110871 | Chromatin interaction |
| ENSG00000112715 | Chromatin interaction |
| ENSG00000198805 | Chromatin interaction |
| ENSG00000150991 | Chromatin interaction |
| ENSG00000014914 | Chromatin interaction |
| ENSG00000116752 | Chromatin interaction |
| ENSG00000132623 | Chromatin interaction |
| ENSG00000181013 | Chromatin interaction |
| ENSG00000267280 | Chromatin interaction |
| ENSG00000167747 | Chromatin interaction |
| ENSG00000149925 | Chromatin interaction |
| ENSG00000260919 | Chromatin interaction |
| ENSG00000172869 | Chromatin interaction |
| ENSG00000202339 | Chromatin interaction |
| ENSG00000158615 | Chromatin interaction |
| ENSG00000170727 | Chromatin interaction |
| ENSG00000089157 | Chromatin interaction |
| ENSG00000231119 | Chromatin interaction |
| ENSG00000245149 | Chromatin interaction |
| ENSG00000160209 | Chromatin interaction |
| ENSG00000084092 | Chromatin interaction |
| ENSG00000170909 | Chromatin interaction |
| ENSG00000238923 | Chromatin interaction |
| ENSG00000230415 | Chromatin interaction |
| ENSG00000179818 | Chromatin interaction |
| ENSG00000243910 | Chromatin interaction |
| ENSG00000264052 | Chromatin interaction |
| ENSG00000196396 | Chromatin interaction |
| ENSG00000135241 | Chromatin interaction |
| ENSG00000269054 | Chromatin interaction |
| ENSG00000111737 | Chromatin interaction |
| ENSG00000115392 | Chromatin interaction |
| ENSG00000204592 | Chromatin interaction |
| ENSG00000111725 | Chromatin interaction |
| ENSG00000105656 | Chromatin interaction |
| ENSG00000101213 | Chromatin interaction |
| ENSG00000153956 | Chromatin interaction |
| ENSG00000105699 | Chromatin interaction |
| ENSG00000153485 | Chromatin interaction |
| ENSG00000152147 | Chromatin interaction |
| ENSG00000185122 | Chromatin interaction |
| ENSG00000256008 | Chromatin interaction |
| ENSG00000254402 | Chromatin interaction |
| ENSG00000123600 | Chromatin interaction |
| ENSG00000166477 | Chromatin interaction |
| ENSG00000148356 | Chromatin interaction |
| ENSG00000170345 | Chromatin interaction |
| ENSG00000256028 | Chromatin interaction |
| ENSG00000199709 | Chromatin interaction |
| ENSG00000105722 | Chromatin interaction |
| ENSG00000152904 | Chromatin interaction |
| ENSG00000120129 | Chromatin interaction |
| ENSG00000048392 | Chromatin interaction |
| ENSG00000179104 | Chromatin interaction |
| ENSG00000186312 | Chromatin interaction |
| ENSG00000135482 | Chromatin interaction |
| ENSG00000247315 | Chromatin interaction |
| ENSG00000154719 | Chromatin interaction |
| ENSG00000100241 | Chromatin interaction |
| ENSG00000271843 | Chromatin interaction |
| ENSG00000170421 | Chromatin interaction |
| ENSG00000136280 | Chromatin interaction |
| ENSG00000111325 | Chromatin interaction |
| ENSG00000267212 | Chromatin interaction |
| ENSG00000236794 | Chromatin interaction |
| ENSG00000101040 | Chromatin interaction |
| ENSG00000145743 | Chromatin interaction |
| ENSG00000112378 | Chromatin interaction |
| ENSG00000272686 | Chromatin interaction |
| ENSG00000132313 | Chromatin interaction |
| ENSG00000185633 | Chromatin interaction |
| ENSG00000135913 | Chromatin interaction |
| ENSG00000136059 | Chromatin interaction |
| ENSG00000009954 | Chromatin interaction |
| ENSG00000184270 | Chromatin interaction |
| ENSG00000267580 | Chromatin interaction |
| ENSG00000248636 | Chromatin interaction |
| ENSG00000062716 | Chromatin interaction |
| ENSG00000266704 | Chromatin interaction |
| ENSG00000270049 | Chromatin interaction |
| ENSG00000223820 | Chromatin interaction |
| ENSG00000108654 | Chromatin interaction |
| ENSG00000132819 | Chromatin interaction |
| ENSG00000138430 | Chromatin interaction |
| ENSG00000011021 | Chromatin interaction |
| ENSG00000260657 | Chromatin interaction |
| ENSG00000139116 | Chromatin interaction |
| ENSG00000252974 | Chromatin interaction |
| ENSG00000126903 | Chromatin interaction |
| ENSG00000199753 | Chromatin interaction |
| ENSG00000064995 | Chromatin interaction |
| ENSG00000049618 | Chromatin interaction |
| ENSG00000171421 | Chromatin interaction |
| ENSG00000272114 | Chromatin interaction |
| ENSG00000258890 | Chromatin interaction |
| ENSG00000068885 | Chromatin interaction |
| ENSG00000100906 | Chromatin interaction |
| ENSG00000117036 | Chromatin interaction |
| ENSG00000229980 | Chromatin interaction |
| ENSG00000241127 | Chromatin interaction |
| ENSG00000188693 | Chromatin interaction |
| ENSG00000127824 | Chromatin interaction |
| ENSG00000170881 | Chromatin interaction |
| ENSG00000179862 | Chromatin interaction |
| ENSG00000167272 | Chromatin interaction |
| ENSG00000204590 | Chromatin interaction |
| ENSG00000259066 | Chromatin interaction |
| ENSG00000257218 | Chromatin interaction |
| ENSG00000086712 | Chromatin interaction |
| ENSG00000142227 | Chromatin interaction |
| ENSG00000161179 | Chromatin interaction |
| ENSG00000115827 | Chromatin interaction |
| ENSG00000258653 | Chromatin interaction |
| ENSG00000112245 | Chromatin interaction |
| ENSG00000087086 | Chromatin interaction |
| ENSG00000143933 | Chromatin interaction |
| ENSG00000111775 | Chromatin interaction |
| ENSG00000264624 | Chromatin interaction |
| ENSG00000144802 | Chromatin interaction |
| ENSG00000135392 | Chromatin interaction |
| ENSG00000160182 | Chromatin interaction |
| ENSG00000127838 | Chromatin interaction |
| ENSG00000149923 | Chromatin interaction |
| ENSG00000135605 | Chromatin interaction |
| ENSG00000124688 | Chromatin interaction |
| ENSG00000267727 | Chromatin interaction |
| ENSG00000177426 | Chromatin interaction |
| ENSG00000157107 | Chromatin interaction |
| ENSG00000151065 | Chromatin interaction |
| ENSG00000170855 | Chromatin interaction |
| ENSG00000206652 | Chromatin interaction |
| ENSG00000112658 | Chromatin interaction |
| ENSG00000181789 | Chromatin interaction |
| ENSG00000149792 | Chromatin interaction |
| ENSG00000015133 | Chromatin interaction |
| ENSG00000089159 | Chromatin interaction |
| ENSG00000182795 | Chromatin interaction |
| ENSG00000105778 | Chromatin interaction |
| ENSG00000111678 | Chromatin interaction |
| ENSG00000141378 | Chromatin interaction |
| ENSG00000023572 | Chromatin interaction |
| ENSG00000124151 | Chromatin interaction |
| ENSG00000159176 | Chromatin interaction |
| ENSG00000183735 | Chromatin interaction |
| ENSG00000116514 | Chromatin interaction |
| ENSG00000163848 | Chromatin interaction |
| ENSG00000230454 | Chromatin interaction |
| ENSG00000155846 | Chromatin interaction |
| ENSG00000177189 | Chromatin interaction |
| ENSG00000155903 | Chromatin interaction |
| ENSG00000232810 | Chromatin interaction |
| ENSG00000162923 | Chromatin interaction |
| ENSG00000184678 | Chromatin interaction |
| ENSG00000179523 | Chromatin interaction |
| ENSG00000129514 | Chromatin interaction |
| ENSG00000171988 | Chromatin interaction |
| ENSG00000169564 | Chromatin interaction |
| ENSG00000162191 | Chromatin interaction |
| ENSG00000122971 | Chromatin interaction |
| ENSG00000122550 | Chromatin interaction |
| ENSG00000232559 | Chromatin interaction |
| ENSG00000112624 | Chromatin interaction |
| ENSG00000111912 | Chromatin interaction |
| ENSG00000224536 | Chromatin interaction |
| ENSG00000135127 | Chromatin interaction |
| ENSG00000053501 | Chromatin interaction |
| ENSG00000008513 | Chromatin interaction |
| ENSG00000261135 | Chromatin interaction |
| ENSG00000267395 | Chromatin interaction |
| ENSG00000251889 | Chromatin interaction |
| ENSG00000139726 | Chromatin interaction |
| ENSG00000264462 | Chromatin interaction |
| ENSG00000089154 | Chromatin interaction |
| ENSG00000175602 | Chromatin interaction |
| ENSG00000170890 | Chromatin interaction |
| ENSG00000164961 | Chromatin interaction |
| ENSG00000100299 | Chromatin interaction |
| ENSG00000198113 | Chromatin interaction |
| ENSG00000111786 | Chromatin interaction |
| ENSG00000107147 | Chromatin interaction |
| ENSG00000131495 | Chromatin interaction |
| ENSG00000180694 | Chromatin interaction |
| ENSG00000156469 | Chromatin interaction |
| ENSG00000201628 | Chromatin interaction |
| ENSG00000272849 | Chromatin interaction |
| ENSG00000162006 | Chromatin interaction |
| ENSG00000160678 | Chromatin interaction |
| ENSG00000197763 | Chromatin interaction |
| ENSG00000258017 | Chromatin interaction |
| ENSG00000123358 | Chromatin interaction |
| ENSG00000182500 | Chromatin interaction |
| ENSG00000131153 | Chromatin interaction |
| ENSG00000240925 | Chromatin interaction |
| ENSG00000128789 | Chromatin interaction |
| ENSG00000160087 | Chromatin interaction |
| ENSG00000266402 | Chromatin interaction |
| ENSG00000248008 | Chromatin interaction |
| ENSG00000187013 | Chromatin interaction |
| ENSG00000010017 | Chromatin interaction |
| ENSG00000158402 | Chromatin interaction |
| ENSG00000115875 | Chromatin interaction |
| ENSG00000224165 | Chromatin interaction |
| ENSG00000183891 | Chromatin interaction |
| ENSG00000123416 | Chromatin interaction |
| ENSG00000027847 | Chromatin interaction |
| ENSG00000256569 | Chromatin interaction |
| ENSG00000106355 | Chromatin interaction |
| ENSG00000085760 | Chromatin interaction |
| ENSG00000140043 | Chromatin interaction |
| ENSG00000198931 | Chromatin interaction |
| ENSG00000223247 | Chromatin interaction |
| ENSG00000109062 | Chromatin interaction |
| ENSG00000135097 | Chromatin interaction |
| ENSG00000177000 | Chromatin interaction |
| ENSG00000136888 | Chromatin interaction |
| ENSG00000177764 | Chromatin interaction |
| ENSG00000230658 | Chromatin interaction |
| ENSG00000113360 | Chromatin interaction |
| ENSG00000184402 | Chromatin interaction |
| ENSG00000202077 | Chromatin interaction |
| ENSG00000204569 | Chromatin interaction |
| ENSG00000047315 | Chromatin interaction |
| ENSG00000115137 | Chromatin interaction |
| ENSG00000213741 | Chromatin interaction |
| ENSG00000122512 | Chromatin interaction |
| ENSG00000143786 | Chromatin interaction |
| ENSG00000170889 | Chromatin interaction |
| ENSG00000168209 | Chromatin interaction |
| ENSG00000227057 | Chromatin interaction |
| ENSG00000145414 | Chromatin interaction |
| ENSG00000110917 | Chromatin interaction |
| ENSG00000204568 | Chromatin interaction |
| ENSG00000140612 | Chromatin interaction |
| ENSG00000137880 | Chromatin interaction |
| ENSG00000229474 | Chromatin interaction |
| ENSG00000100219 | Chromatin interaction |
| ENSG00000001630 | Chromatin interaction |
| ENSG00000174586 | Chromatin interaction |
| ENSG00000172262 | Chromatin interaction |
| ENSG00000130985 | Chromatin interaction |
| ENSG00000184260 | Chromatin interaction |
| ENSG00000104472 | Chromatin interaction |
| ENSG00000133316 | Chromatin interaction |
| ENSG00000252659 | Chromatin interaction |
| ENSG00000171940 | Chromatin interaction |
| ENSG00000104131 | Chromatin interaction |
| ENSG00000204580 | Chromatin interaction |
| ENSG00000243678 | Chromatin interaction |
| ENSG00000102780 | Chromatin interaction |
| ENSG00000124784 | Chromatin interaction |
| ENSG00000173653 | Chromatin interaction |
| ENSG00000166710 | Chromatin interaction |
| ENSG00000156471 | Chromatin interaction |
| ENSG00000161016 | Chromatin interaction |
| ENSG00000263913 | Chromatin interaction |
| ENSG00000137767 | Chromatin interaction |
| ENSG00000109046 | Chromatin interaction |
| ENSG00000201801 | Chromatin interaction |
| ENSG00000149806 | Chromatin interaction |
| ENSG00000164070 | Chromatin interaction |
| ENSG00000141232 | Chromatin interaction |
| ENSG00000266173 | Chromatin interaction |
| ENSG00000163918 | Chromatin interaction |
| ENSG00000156831 | Chromatin interaction |
| ENSG00000138138 | Chromatin interaction |
| ENSG00000108423 | Chromatin interaction |
| ENSG00000105926 | Chromatin interaction |
| ENSG00000221521 | Chromatin interaction |
| ENSG00000150967 | Chromatin interaction |
| ENSG00000101182 | Chromatin interaction |
| ENSG00000209042 | Chromatin interaction |
| ENSG00000088986 | Chromatin interaction |
| ENSG00000165943 | Chromatin interaction |
| ENSG00000249915 | Chromatin interaction |
| ENSG00000178096 | Chromatin interaction |
| ENSG00000120709 | Chromatin interaction |
| ENSG00000213137 | Chromatin interaction |
| ENSG00000075399 | Chromatin interaction |
| ENSG00000159445 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs10849740 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs16950044 | 0.84[JPT][hapmap] |
| rs35878446 | 0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs35989529 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs3847967 | 0.84[JPT][hapmap] |
| rs3847968 | 0.82[JPT][hapmap] |
| rs4766960 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs6490288 | 0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7298516 | 0.93[YRI][hapmap] |
| rs7299308 | 0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7960743 | 0.90[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv899555 | chr12:120519124-120840522 | Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 499 gene(s) | inside rSNPs | diseases |
| 2 | nsv832530 | chr12:120586069-120758175 | Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 484 gene(s) | inside rSNPs | diseases |
| 3 | nsv1035698 | chr12:120645330-120777580 | Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 436 gene(s) | inside rSNPs | diseases |
| 4 | nsv1047447 | chr12:120645330-120808621 | Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 436 gene(s) | inside rSNPs | diseases |
| 5 | nsv560435 | chr12:120695141-120769657 | Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 433 gene(s) | inside rSNPs | diseases |
| 6 | nsv899556 | chr12:120695141-120779931 | Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 433 gene(s) | inside rSNPs | diseases |
| 7 | esv1799498 | chr12:120725939-120745740 | Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 429 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:120725200-120729800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr12:120725200-120730000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 3 | chr12:120725200-120730000 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 4 | chr12:120727600-120729800 | Enhancers | Fetal Brain Male | brain |
| 5 | chr12:120728400-120729800 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 6 | chr12:120728400-120729800 | Flanking Active TSS | Primary neutrophils fromperipheralblood | blood |
| 7 | chr12:120728400-120729800 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
| 8 | chr12:120728400-120730800 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 9 | chr12:120728400-120731000 | Active TSS | Pancreas | Pancrea |
| 10 | chr12:120728400-120731200 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
| 11 | chr12:120728400-120731400 | Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 12 | chr12:120728400-120731400 | Active TSS | Rectal Smooth Muscle | rectum |
| 13 | chr12:120728600-120729800 | Enhancers | Primary mononuclear cells fromperipheralblood | Blood |
| 14 | chr12:120728600-120730200 | Enhancers | Fetal Heart | heart |
| 15 | chr12:120728600-120730400 | Active TSS | Brain Angular Gyrus | brain |
| 16 | chr12:120728600-120730600 | Active TSS | Fetal Kidney | kidney |
| 17 | chr12:120728600-120730800 | Active TSS | iPS-15b Cell Line | embryonic stem cell |
| 18 | chr12:120728600-120730800 | Active TSS | Right Atrium | heart |
| 19 | chr12:120728600-120731000 | Active TSS | H9 Cell Line | embryonic stem cell |
| 20 | chr12:120728600-120731000 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 21 | chr12:120728600-120731000 | Active TSS | iPS-18 Cell Line | embryonic stem cell |
| 22 | chr12:120728600-120731200 | Active TSS | HUES64 Cell Line | embryonic stem cell |
| 23 | chr12:120728600-120731200 | Active TSS | iPS-20b Cell Line | embryonic stem cell |
| 24 | chr12:120728600-120731200 | Active TSS | Colon Smooth Muscle | Colon |
| 25 | chr12:120728600-120731400 | Active TSS | HUES48 Cell Line | embryonic stem cell |
| 26 | chr12:120728600-120731400 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 27 | chr12:120728600-120731400 | Active TSS | Colonic Mucosa | Colon |
| 28 | chr12:120728600-120731400 | Active TSS | Duodenum Smooth Muscle | Duodenum |
| 29 | chr12:120728600-120731400 | Active TSS | Pancreatic Islets | Pancreatic Islet |
| 30 | chr12:120728600-120731600 | Active TSS | Brain Substantia Nigra | brain |
| 31 | chr12:120728800-120730400 | Active TSS | Fetal Brain Female | brain |
| 32 | chr12:120728800-120730600 | Flanking Active TSS | Primary T cells fromperipheralblood | blood |
| 33 | chr12:120728800-120731000 | Active TSS | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 34 | chr12:120728800-120731000 | Active TSS | Left Ventricle | heart |
| 35 | chr12:120728800-120731200 | Active TSS | Brain Inferior Temporal Lobe | brain |
| 36 | chr12:120728800-120731200 | Active TSS | Right Ventricle | heart |
| 37 | chr12:120728800-120731600 | Active TSS | Psoas Muscle | Psoas |
| 38 | chr12:120729000-120729800 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 39 | chr12:120729000-120729800 | Active TSS | Skeletal Muscle Female | skeletal muscle |
| 40 | chr12:120729000-120729800 | Weak transcription | HSMMtube | muscle |
| 41 | chr12:120729000-120729800 | Enhancers | NH-A | brain |
| 42 | chr12:120729000-120729800 | Weak transcription | NHDF-Ad | bronchial |
| 43 | chr12:120729000-120730400 | Active TSS | Aorta | Aorta |
| 44 | chr12:120729000-120730400 | Active TSS | Hela-S3 | cervix |
| 45 | chr12:120729000-120730400 | Active TSS | HUVEC | blood vessel |
| 46 | chr12:120729000-120730600 | Active TSS | ES-WA7 Cell Line | embryonic stem cell |
| 47 | chr12:120729000-120731000 | Active TSS | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 48 | chr12:120729000-120731000 | Active TSS | HUES6 Cell Line | embryonic stem cell |
| 49 | chr12:120729000-120731000 | Active TSS | Breast Myoepithelial Primary Cells | Breast |
| 50 | chr12:120729000-120731000 | Active TSS | Foreskin Melanocyte Primary Cells skin01 | Skin |
