Variant report
| Variant | nsv544362 |
|---|---|
| Chromosome Location | chr21:14678355-15372512 |
| allele | n/a |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:1954)
- CpG islands (count:4702)
- Chromatin interactive region (count:1)
- LncRNA region (count:73)
- Mature miRNA region (count: 3)
- miRNA target sites (count:0)
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | ARID3A | chr21:15295624-15295648 | K562 | blood: | n/a | n/a |
| 2 | ARID3A | chr21:15346022-15346251 | K562 | blood: | n/a | n/a |
| 3 | ARID3A | chr21:15346922-15347270 | K562 | blood: | n/a | n/a |
| 4 | ATF1 | chr21:15091414-15091630 | K562 | blood: | n/a | n/a |
| 5 | ATF1 | chr21:15249426-15249616 | K562 | blood: | n/a | n/a |
| 6 | ATF1 | chr21:15342677-15342811 | K562 | blood: | n/a | n/a |
| 7 | BACH1 | chr21:15347039-15347218 | K562 | blood: | n/a | n/a |
| 8 | BATF | chr21:15293789-15294118 | GM12878 | blood: | n/a | chr21:15293876-15293886 |
| 9 | BATF | chr21:15319369-15319639 | GM12878 | blood: | n/a | n/a |
| 10 | BATF | chr21:15319344-15319735 | GM12878 | blood: | n/a | n/a |
| 11 | BATF | chr21:15112499-15112702 | GM12878 | blood: | n/a | n/a |
| 12 | BATF | chr21:15295228-15295568 | GM12878 | blood: | n/a | chr21:15295405-15295416 |
| 13 | BATF | chr21:15063813-15064156 | GM12878 | blood: | n/a | chr21:15064016-15064027 |
| 14 | BATF | chr21:15321908-15322326 | GM12878 | blood: | n/a | chr21:15322062-15322070 |
| 15 | BATF | chr21:15302414-15302611 | GM12878 | blood: | n/a | chr21:15302548-15302559 |
| 16 | BATF | chr21:15315150-15315618 | GM12878 | blood: | n/a | n/a |
| 17 | BATF | chr21:15341379-15341645 | GM12878 | blood: | n/a | chr21:15341542-15341553 |
| 18 | BATF | chr21:15340388-15340909 | GM12878 | blood: | n/a | n/a |
| 19 | BATF | chr21:15293789-15294119 | GM12878 | blood: | n/a | chr21:15293876-15293886 |
| 20 | BATF | chr21:15321950-15322323 | GM12878 | blood: | n/a | chr21:15322062-15322070 |
| 21 | BATF | chr21:15340450-15340827 | GM12878 | blood: | n/a | n/a |
| 22 | BATF | chr21:15315223-15315545 | GM12878 | blood: | n/a | n/a |
| 23 | BATF | chr21:15134301-15134500 | GM12878 | blood: | n/a | n/a |
| 24 | BATF | chr21:15315664-15315881 | GM12878 | blood: | n/a | n/a |
| 25 | BATF | chr21:15295169-15295585 | GM12878 | blood: | n/a | chr21:15295405-15295416 |
| 26 | BCL11A | chr21:15340450-15340836 | GM12878 | blood: | n/a | chr21:15340521-15340530 chr21:15340574-15340583 |
| 27 | BCL11A | chr21:15315283-15315608 | GM12878 | blood: | n/a | n/a |
| 28 | BCL11A | chr21:15319397-15319586 | GM12878 | blood: | n/a | n/a |
| 29 | BCL11A | chr21:15322021-15322201 | GM12878 | blood: | n/a | n/a |
| 30 | BCL11A | chr21:15321900-15322332 | GM12878 | blood: | n/a | n/a |
| 31 | BCL11A | chr21:15063984-15064146 | GM12878 | blood: | n/a | n/a |
| 32 | BCL11A | chr21:15293842-15294225 | GM12878 | blood: | n/a | n/a |
| 33 | BCL11A | chr21:15328745-15328928 | GM12878 | blood: | n/a | n/a |
| 34 | BCL11A | chr21:15223481-15223715 | GM12878 | blood: | n/a | n/a |
| 35 | BCL11A | chr21:15319352-15319733 | GM12878 | blood: | n/a | n/a |
| 36 | BCL11A | chr21:15063819-15064217 | GM12878 | blood: | n/a | n/a |
| 37 | BCL11A | chr21:15340406-15340552 | GM12878 | blood: | n/a | chr21:15340521-15340530 |
| 38 | BCL11A | chr21:15315306-15315658 | GM12878 | blood: | n/a | chr21:15315610-15315619 |
| 39 | BHLHE40 | chr21:15069019-15069264 | K562 | blood: | n/a | n/a |
| 40 | BHLHE40 | chr21:15352447-15352823 | K562 | blood: | n/a | n/a |
| 41 | BHLHE40 | chr21:15347507-15347656 | K562 | blood: | n/a | n/a |
| 42 | BHLHE40 | chr21:15352368-15352716 | GM12878 | blood: | n/a | n/a |
| 43 | BHLHE40 | chr21:15095840-15095940 | K562 | blood: | n/a | chr21:15095898-15095914 |
| 44 | BHLHE40 | chr21:15145416-15145487 | K562 | blood: | n/a | chr21:15145432-15145441 |
| 45 | BHLHE40 | chr21:15295613-15295821 | K562 | blood: | n/a | n/a |
| 46 | BRCA1 | chr21:15352647-15352716 | Hela-S3 | cervix: | n/a | n/a |
| 47 | CBX3 | chr21:15352365-15352825 | K562 | blood: | n/a | n/a |
| 48 | CBX3 | chr21:15091400-15091687 | K562 | blood: | n/a | n/a |
| 49 | CCNT2 | chr21:15295624-15295806 | K562 | blood: | n/a | n/a |
| 50 | CEBPB | chr21:15186322-15186471 | HepG2 | liver: | n/a | chr21:15186346-15186357 |
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr21:15311594-15311644 | GM12892 | blood: | n/a |
| 2 | chr21:15309846-15309896 | GM12891 | blood: | n/a |
| 3 | chr21:14982363-14982413 | HAEpiC | amniotic membrane: | n/a |
| 4 | chr21:14982779-14982829 | NHDF-neo | bronchial: | n/a |
| 5 | chr21:15197291-15197341 | PANC-1 | pancreas: | n/a |
| 6 | chr21:15311594-15311644 | GM12892 | blood: | n/a |
| 7 | chr21:15309846-15309896 | GM12891 | blood: | n/a |
| 8 | chr21:14982363-14982413 | HAEpiC | amniotic membrane: | n/a |
| 9 | chr21:14982779-14982829 | NHDF-neo | bronchial: | n/a |
| 10 | chr21:15197291-15197341 | PANC-1 | pancreas: | n/a |
| 11 | chr21:15077774-15077824 | HMEC | breast: | n/a |
| 12 | chr21:15066995-15067045 | AG04449 | skin: | fetal |
| 13 | chr21:15352608-15352658 | SKMC | muscle: | n/a |
| 14 | chr21:14982225-14982275 | HEEpiC | esophagus: | n/a |
| 15 | chr21:15355304-15355354 | NHBE | bronchial: | n/a |
| 16 | chr21:15354157-15354207 | HUVEC | blood vessel: | n/a |
| 17 | chr21:15147467-15147517 | NHBE | bronchial: | n/a |
| 18 | chr21:15066995-15067045 | ProgFib | skin: | n/a |
| 19 | chr21:15354232-15354282 | HRE | kidney: | n/a |
| 20 | chr21:15052411-15052461 | HRCEpiC | kidney: | n/a |
| 21 | chr21:15096626-15096676 | PANC-1 | pancreas: | n/a |
| 22 | chr21:15038699-15038749 | HEK293 | kidney: | embryo |
| 23 | chr21:15147467-15147517 | HCPEpiC | choroid plexus: | n/a |
| 24 | chr21:15135336-15135386 | HRCEpiC | kidney: | n/a |
| 25 | chr21:15307662-15307712 | MCF10A-Er-Src | breast: | n/a |
| 26 | chr21:15080112-15080162 | MCF10A-Er-Src | breast: | n/a |
| 27 | chr21:15049206-15049256 | NHDF-neo | bronchial: | n/a |
| 28 | chr21:15096626-15096676 | NT2-D1 | testis: | n/a |
| 29 | chr21:15066572-15066622 | SK-N-SH_RA | brain: | n/a |
| 30 | chr21:15077562-15077612 | NHBE | bronchial: | n/a |
| 31 | chr21:15077096-15077146 | HCF | heart: | n/a |
| 32 | chr21:15035944-15035994 | CMK | blood: | n/a |
| 33 | chr21:15069190-15069240 | K562 | blood: | n/a |
| 34 | chr21:15096426-15096476 | T-47D | breast: | n/a |
| 35 | chr21:14982363-14982413 | HUVEC | blood vessel: | n/a |
| 36 | chr21:14982779-14982829 | HIPEpiC | eye: | n/a |
| 37 | chr21:15197291-15197341 | SK-N-MC | brain: | n/a |
| 38 | chr21:14982350-14982400 | PFSK-1 | brain: | n/a |
| 39 | chr21:15200106-15200156 | BJ | skin: | n/a |
| 40 | chr21:15147467-15147517 | AG04450 | lung: | fetal |
| 41 | chr21:15066995-15067045 | GM06990 | blood: | n/a |
| 42 | chr21:15352940-15352990 | SK-N-MC | brain: | n/a |
| 43 | chr21:15066572-15066622 | HUVEC | blood vessel: | n/a |
| 44 | chr21:15095607-15095657 | SKMC | muscle: | n/a |
| 45 | chr21:15131938-15131988 | Caco-2 | colon: | n/a |
| 46 | chr21:15135336-15135386 | HCF | heart: | n/a |
| 47 | chr21:15069875-15069925 | AG09309 | skin: | n/a |
| 48 | chr21:15069190-15069240 | HEK293 | kidney: | embryo |
| 49 | chr21:15049206-15049256 | HRPEpiC | eye: | n/a |
| 50 | chr21:15112617-15112667 | GM19239 | blood: | n/a |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr18:14629664..14632607-chr21:14899242..14900976,2 | MCF-7 | breast: |
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-LIPI-4 | chr21:15323553-15323581 | NONHSAT081131 |
| 2 | lnc-BAGE4-12 | chr21:15041937-15042566 | NONHSAT081116 |
| 3 | lnc-LIPI-4 | chr21:15344317-15344450 | NONHSAT081133 |
| 4 | lnc-POTED-1 | chr21:14930638-14930781 | NR_110544 |
| 5 | lnc-BAGE4-5 | chr21:14789550-14789761 | expReg_chr21_132_- |
| 6 | lnc-LIPI-4 | chr21:15339702-15339757 | NONHSAT081133 |
| 7 | lnc-POTED-1 | chr21:14919301-14919449 | NR_110544 |
| 8 | lnc-POTED-1 | chr21:14918354-14918444 | ENSG00000228159 |
| 9 | lnc-LIPI-9 | chr21:15119715-15119817 | l_2168_chr21:15116917-15119815_placenta |
| 10 | lnc-BAGE4-13 | chr21:15056956-15057423 | expReg_chr21_194_- |
| 11 | lnc-POTED-8 | chr21:15211439-15211730 | NONHSAT081121 |
| 12 | lnc-LIPI-9 | chr21:15116918-15118607 | l_2168_chr21:15116917-15119815_placenta |
| 13 | lnc-LIPI-4 | chr21:15335061-15335192 | NONHSAT081133 |
| 14 | lnc-POTED-11 | chr21:15286426-15287046 | NONHSAT081129 |
| 15 | lnc-LIPI-7 | chr21:15216343-15216456 | NONHSAT081124 |
| 16 | lnc-LIPI-4 | chr21:15311695-15311749 | NONHSAT081132 |
| 17 | lnc-LIPI-4 | chr21:15311567-15311749 | NONHSAT081131 |
| 18 | lnc-LIPI-7 | chr21:15217326-15217595 | NONHSAT081124 |
| 19 | lnc-POTED-1 | chr21:14928714-14928832 | NR_110544 |
| 20 | lnc-POTED-9 | chr21:15240747-15241288 | NONHSAT081122 |
| 21 | lnc-LIPI-4 | chr21:15317360-15317464 | NONHSAT081132 |
| 22 | lnc-POTED-7 | chr21:14848692-14849584 | NONHSAT081105 |
| 23 | lnc-LIPI-7 | chr21:15220411-15220685 | NONHSAT081124 |
| 24 | lnc-LIPI-7 | chr21:15215454-15215753 | NONHSAT081124 |
| 25 | lnc-LIPI-3 | chr21:15355017-15355220 | expReg_chr21_329_- |
| 26 | lnc-LIPI-4 | chr21:15323388-15323460 | NONHSAT081132 |
| 27 | lnc-BAGE4-12 | chr21:15045054-15045100 | NONHSAT081117 |
| 28 | lnc-LIPI-4 | chr21:15316065-15316183 | NONHSAT081133 |
| 29 | lnc-LIPI-7 | chr21:15218334-15218713 | NONHSAT081125 |
| 30 | lnc-LIPI-7 | chr21:15217426-15217595 | NONHSAT081125 |
| 31 | lnc-POTED-5 | chr21:15035025-15035149 | NONHSAT081114 |
| 32 | lnc-LIPI-4 | chr21:15317360-15317430 | NONHSAT081133 |
| 33 | lnc-LIPI-4 | chr21:15310267-15310388 | NONHSAT081131 |
| 34 | lnc-LIPI-4 | chr21:15323553-15323581 | NONHSAT081133 |
| 35 | lnc-LIPI-4 | chr21:15342294-15342324 | NONHSAT081131 |
| 36 | lnc-POTED-11 | chr21:15265662-15265761 | NONHSAT081129 |
| 37 | lnc-LIPI-4 | chr21:15313136-15313299 | NONHSAT081131 |
| 38 | lnc-LIPI-7 | chr21:15218334-15218462 | NONHSAT081124 |
| 39 | lnc-LIPI-7 | chr21:15215457-15215753 | NONHSAT147184 |
| 40 | lnc-POTED-5 | chr21:15048216-15048672 | NONHSAT081114 |
| 41 | lnc-POTED-2 | chr21:15143886-15144061 | XLOC_013860 |
| 42 | lnc-LIPI-4 | chr21:15313136-15313299 | NONHSAT081132 |
| 43 | lnc-LIPI-4 | chr21:15335061-15335106 | NONHSAT081132 |
| 44 | lnc-POTED-9 | chr21:15212726-15212964 | NONHSAT081122 |
| 45 | lnc-LIPI-7 | chr21:15219080-15219270 | NONHSAT081124 |
| 46 | lnc-POTED-1 | chr21:14919301-14919449 | ENSG00000228159 |
| 47 | lnc-LIPI-4 | chr21:15323553-15323581 | NONHSAT081132 |
| 48 | lnc-LIPI-4 | chr21:15317360-15317430 | NONHSAT081131 |
| 49 | lnc-POTED-12 | chr21:14687514-14687778 | l_2166_chr21:14677648-14687775_brain |
| 50 | lnc-POTED-2 | chr21:15142253-15142534 | XLOC_013860 |
| miRNA name | Chromosome Location | mirBase accession |
|---|---|---|
| hsa-miR-3156-5p | chr21:14778752-14778773 | MIMAT0015030_2 |
| hsa-miR-3118 | chr21:15017105-15017127 | MIMAT0014980_5 |
| hsa-miR-8069 | chr21:15096563-15096585 | MIMAT0030996 |
| No data |
| Variant related genes | Relation type |
|---|---|
| VN1R8P | TF binding region |
| OR4K11P | TF binding region |
| FEM1AP1 | TF binding region |
| ENSG00000269011 | TF binding region |
| TERF1P1 | TF binding region |
| ANKRD30BP1 | TF binding region |
| RNU6-954P | TF binding region |
| ZNF114P1 | TF binding region |
| RNU6-286P | TF binding region |
| MIR3156-3 | TF binding region |
| ENSG00000224922 | TF binding region |
| NF1P3 | TF binding region |
| SNX18P13 | TF binding region |
| FAM207CP | TF binding region |
| ENSG00000228159 | TF binding region |
| GXYLT1P2 | TF binding region |
| ENSG00000266838 | TF binding region |
| FGF7P2 | TF binding region |
| CXADRP1 | TF binding region |
| RHOT1P2 | TF binding region |
| GRAMD4P1 | TF binding region |
| ENSG00000256715 | TF binding region |
| POTED | TF binding region |
| CNN2P7 | TF binding region |
| MIR3118-5 | TF binding region |
| GTF2IP2 | TF binding region |
| CYP4F29P | TF binding region |
| ANKRD20A11P | TF binding region |
| OR4K12P | TF binding region |
| SNX19P1 | TF binding region |
| VN1R8P | CpG island |
| OR4K11P | CpG island |
| FEM1AP1 | CpG island |
| ENSG00000269011 | CpG island |
| TERF1P1 | CpG island |
| ANKRD30BP1 | CpG island |
| RNU6-954P | CpG island |
| ZNF114P1 | CpG island |
| RNU6-286P | CpG island |
| MIR3156-3 | CpG island |
| ENSG00000224922 | CpG island |
| NF1P3 | CpG island |
| SNX18P13 | CpG island |
| FAM207CP | CpG island |
| ENSG00000228159 | CpG island |
| GXYLT1P2 | CpG island |
| ENSG00000266838 | CpG island |
| FGF7P2 | CpG island |
| CXADRP1 | CpG island |
| RHOT1P2 | CpG island |
| GRAMD4P1 | CpG island |
| ENSG00000256715 | CpG island |
| POTED | CpG island |
| CNN2P7 | CpG island |
| MIR3118-5 | CpG island |
| GTF2IP2 | CpG island |
| CYP4F29P | CpG island |
| ANKRD20A11P | CpG island |
| OR4K12P | CpG island |
| SNX19P1 | CpG island |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs564389594 | chr21:14678360-14678361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs532984674 | chr21:14678378-14678379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs112076428 | chr21:14678381-14678382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs113955376 | chr21:14678502-14678503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs546611325 | chr21:14678519-14678520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566582905 | chr21:14678559-14678560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs535497118 | chr21:14678604-14678605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs182347209 | chr21:14678631-14678632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs549576802 | chr21:14678670-14678671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs569320493 | chr21:14678672-14678673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs538421320 | chr21:14678679-14678680 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs558197758 | chr21:14678684-14678685 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs578196463 | chr21:14678710-14678711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs143808515 | chr21:14678730-14678731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs553708262 | chr21:14678771-14678772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs2859716 | chr21:14678783-14678784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs573795926 | chr21:14678786-14678787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs187332511 | chr21:14678810-14678811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs561935283 | chr21:14678833-14678834 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs114729601 | chr21:14678841-14678842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs544372272 | chr21:14678921-14678922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs564269668 | chr21:14679023-14679024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs200362605 | chr21:14679060-14679061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs546623647 | chr21:14679081-14679082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs190987984 | chr21:14679107-14679108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs531070726 | chr21:14679134-14679135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs529014231 | chr21:14679160-14679161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs397834901 | chr21:14679173-14679174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs2747215 | chr21:14679184-14679185 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs548841234 | chr21:14679187-14679188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs376075886 | chr21:14679196-14679197 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs182102113 | chr21:14679214-14679215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs538104939 | chr21:14679225-14679226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs1296961 | chr21:14679228-14679229 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 35 | rs2747214 | chr21:14679263-14679264 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs571614493 | chr21:14679287-14679288 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs534172812 | chr21:14679320-14679321 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs139723251 | chr21:14679332-14679333 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs567287646 | chr21:14679391-14679392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs536633879 | chr21:14679428-14679429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs185123281 | chr21:14679446-14679447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs556409423 | chr21:14679478-14679479 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs377382305 | chr21:14679482-14679483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs113827702 | chr21:14679497-14679498 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs146203572 | chr21:14679508-14679509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs189929929 | chr21:14679548-14679549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs540499180 | chr21:14679575-14679576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs560462468 | chr21:14679600-14679601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs183219703 | chr21:14679608-14679609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs528927023 | chr21:14679615-14679616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| Disease | PMID | Source |
|---|---|---|
| Ovarian cancer | 21720365 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 16751803 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Down syndrome | 17412756 | CNVD |
| Down syndrome | 17576883 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 21509527 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Seminomas | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Congenital abnormalities | 21549014 | CNVD |
| Developmental delay | 21549014 | CNVD |
| Mental retardation | 21549014 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Autism | 18414403 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| abnormal development | 18461090 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| T-cell lymphomas | 22341440 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Melanoma | 17363583 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Alzheimer''s disease | 18923514 | CNVD |
| Alzheimer''s disease | 20877625 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Alzheimer''s disease | 21956041 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Melanoma | 18172304 | CNVD |
| Autism | 22958593 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:14677600-14682400 | Weak transcription | Liver | Liver |
| 2 | chr21:14682400-14682800 | Enhancers | Liver | Liver |
| 3 | chr21:14733400-14733800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 4 | chr21:14740600-14741200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 5 | chr21:14742800-14743200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 6 | chr21:14742800-14743800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 7 | chr21:14743000-14743800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 8 | chr21:14743400-14743800 | Active TSS | Primary T helper memory cells from peripheral blood 2 | blood |
| 9 | chr21:14751400-14752800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 10 | chr21:14752200-14752600 | Active TSS | Primary T cells from cord blood | blood |
| 11 | chr21:14794200-14795400 | Enhancers | Dnd41 | blood |
| 12 | chr21:14866000-14867000 | Enhancers | Dnd41 | blood |
| 13 | chr21:14867000-14869000 | Weak transcription | Dnd41 | blood |
| 14 | chr21:14869000-14872400 | Enhancers | Dnd41 | blood |
| 15 | chr21:14888000-14888200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 16 | chr21:14900000-14900400 | ZNF genes & repeats | Dnd41 | blood |
| 17 | chr21:14900400-14901400 | Weak transcription | Dnd41 | blood |
| 18 | chr21:14901400-14904800 | Enhancers | Dnd41 | blood |
| 19 | chr21:14916600-14920000 | Enhancers | Dnd41 | blood |
| 20 | chr21:14917000-14917600 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
| 21 | chr21:14920000-14922800 | Weak transcription | Dnd41 | blood |
| 22 | chr21:14922800-14923600 | Enhancers | Dnd41 | blood |
| 23 | chr21:14924200-14924400 | Enhancers | Dnd41 | blood |
| 24 | chr21:14965200-14966200 | Enhancers | Dnd41 | blood |
| 25 | chr21:14983000-14983200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 26 | chr21:15035600-15036200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 27 | chr21:15056200-15058400 | Enhancers | Liver | Liver |
| 28 | chr21:15058400-15060200 | Weak transcription | Liver | Liver |
| 29 | chr21:15060200-15062000 | Enhancers | Liver | Liver |
| 30 | chr21:15066000-15068800 | Weak transcription | Right Atrium | heart |
| 31 | chr21:15067000-15070200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 32 | chr21:15067600-15069600 | Enhancers | Liver | Liver |
| 33 | chr21:15067600-15069600 | ZNF genes & repeats | Fetal Adrenal Gland | Adrenal Gland |
| 34 | chr21:15067800-15070200 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 35 | chr21:15068200-15069600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 36 | chr21:15068200-15069600 | ZNF genes & repeats | Spleen | Spleen |
| 37 | chr21:15068400-15069400 | Active TSS | Pancreas | Pancrea |
| 38 | chr21:15068600-15068800 | Bivalent Enhancer | Breast Myoepithelial Primary Cells | Breast |
| 39 | chr21:15068600-15068800 | Bivalent/Poised TSS | Colon Smooth Muscle | Colon |
| 40 | chr21:15068600-15069800 | Enhancers | Placenta | Placenta |
| 41 | chr21:15068800-15069000 | Bivalent/Poised TSS | ES-WA7 Cell Line | embryonic stem cell |
| 42 | chr21:15068800-15069000 | Flanking Active TSS | Skeletal Muscle Male | skeletal muscle |
| 43 | chr21:15068800-15069400 | Bivalent/Poised TSS | ES-I3 Cell Line | embryonic stem cell |
| 44 | chr21:15068800-15069400 | Active TSS | Brain Anterior Caudate | brain |
| 45 | chr21:15068800-15069400 | Active TSS | Colon Smooth Muscle | Colon |
| 46 | chr21:15068800-15069400 | Active TSS | K562 | blood |
| 47 | chr21:15068800-15069600 | Bivalent/Poised TSS | Breast Myoepithelial Primary Cells | Breast |
| 48 | chr21:15068800-15069600 | Active TSS | Brain Inferior Temporal Lobe | brain |
| 49 | chr21:15068800-15069600 | Active TSS | Right Atrium | heart |
| 50 | chr21:15068800-15069800 | Bivalent/Poised TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |






