Variant report
| Variant | nsv587017 |
|---|---|
| Chromosome Location | chr21:14977445-15375507 |
| allele | n/a |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:1618)
- CpG islands (count:4706)
- Chromatin interactive region (count:0)
- LncRNA region (count:57)
- Mature miRNA region (count: 2)
- 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 | chr21:15346922-15347270 | K562 | blood: | n/a | n/a |
| 3 | ARID3A | chr21:15346022-15346251 | K562 | blood: | n/a | n/a |
| 4 | ATF1 | chr21:15249426-15249616 | K562 | blood: | n/a | n/a |
| 5 | ATF1 | chr21:15342677-15342811 | K562 | blood: | n/a | n/a |
| 6 | ATF1 | chr21:15091414-15091630 | K562 | blood: | n/a | n/a |
| 7 | BACH1 | chr21:15347039-15347218 | K562 | blood: | n/a | n/a |
| 8 | BATF | chr21:15134301-15134500 | GM12878 | blood: | n/a | n/a |
| 9 | BATF | chr21:15315223-15315545 | GM12878 | blood: | n/a | n/a |
| 10 | BATF | chr21:15112499-15112702 | GM12878 | blood: | n/a | n/a |
| 11 | BATF | chr21:15063813-15064156 | GM12878 | blood: | n/a | chr21:15064016-15064027 |
| 12 | BATF | chr21:15340450-15340827 | GM12878 | blood: | n/a | n/a |
| 13 | BATF | chr21:15341379-15341645 | GM12878 | blood: | n/a | chr21:15341542-15341553 |
| 14 | BATF | chr21:15293789-15294118 | GM12878 | blood: | n/a | chr21:15293876-15293886 |
| 15 | BATF | chr21:15340388-15340909 | GM12878 | blood: | n/a | n/a |
| 16 | BATF | chr21:15319369-15319639 | GM12878 | blood: | n/a | n/a |
| 17 | BATF | chr21:15315664-15315881 | GM12878 | blood: | n/a | n/a |
| 18 | BATF | chr21:15295169-15295585 | GM12878 | blood: | n/a | chr21:15295405-15295416 |
| 19 | BATF | chr21:15315150-15315618 | GM12878 | blood: | n/a | n/a |
| 20 | BATF | chr21:15302414-15302611 | GM12878 | blood: | n/a | chr21:15302548-15302559 |
| 21 | BATF | chr21:15295228-15295568 | GM12878 | blood: | n/a | chr21:15295405-15295416 |
| 22 | BATF | chr21:15293789-15294119 | GM12878 | blood: | n/a | chr21:15293876-15293886 |
| 23 | BATF | chr21:15321950-15322323 | GM12878 | blood: | n/a | chr21:15322062-15322070 |
| 24 | BATF | chr21:15319344-15319735 | GM12878 | blood: | n/a | n/a |
| 25 | BATF | chr21:15321908-15322326 | GM12878 | blood: | n/a | chr21:15322062-15322070 |
| 26 | BCL11A | chr21:15322021-15322201 | GM12878 | blood: | n/a | n/a |
| 27 | BCL11A | chr21:15063984-15064146 | GM12878 | blood: | n/a | n/a |
| 28 | BCL11A | chr21:15063819-15064217 | GM12878 | blood: | n/a | n/a |
| 29 | BCL11A | chr21:15340450-15340836 | GM12878 | blood: | n/a | chr21:15340521-15340530 chr21:15340574-15340583 |
| 30 | BCL11A | chr21:15319397-15319586 | GM12878 | blood: | n/a | n/a |
| 31 | BCL11A | chr21:15321900-15322332 | GM12878 | blood: | n/a | n/a |
| 32 | BCL11A | chr21:15293842-15294225 | GM12878 | blood: | n/a | n/a |
| 33 | BCL11A | chr21:15223481-15223715 | GM12878 | blood: | n/a | n/a |
| 34 | BCL11A | chr21:15315283-15315608 | GM12878 | blood: | n/a | n/a |
| 35 | BCL11A | chr21:15340406-15340552 | GM12878 | blood: | n/a | chr21:15340521-15340530 |
| 36 | BCL11A | chr21:15315306-15315658 | GM12878 | blood: | n/a | chr21:15315610-15315619 |
| 37 | BCL11A | chr21:15328745-15328928 | GM12878 | blood: | n/a | n/a |
| 38 | BCL11A | chr21:15319352-15319733 | GM12878 | blood: | n/a | n/a |
| 39 | BHLHE40 | chr21:15095840-15095940 | K562 | blood: | n/a | chr21:15095898-15095914 |
| 40 | BHLHE40 | chr21:15145416-15145487 | K562 | blood: | n/a | chr21:15145432-15145441 |
| 41 | BHLHE40 | chr21:15352368-15352716 | GM12878 | blood: | n/a | n/a |
| 42 | BHLHE40 | chr21:15069019-15069264 | K562 | blood: | n/a | n/a |
| 43 | BHLHE40 | chr21:15295613-15295821 | K562 | blood: | n/a | n/a |
| 44 | BHLHE40 | chr21:15347507-15347656 | K562 | blood: | n/a | n/a |
| 45 | BHLHE40 | chr21:15352447-15352823 | K562 | blood: | n/a | n/a |
| 46 | BRCA1 | chr21:15352647-15352716 | Hela-S3 | cervix: | n/a | n/a |
| 47 | CBX3 | chr21:15091400-15091687 | K562 | blood: | n/a | n/a |
| 48 | CBX3 | chr21:15352365-15352825 | K562 | blood: | n/a | n/a |
| 49 | CCNT2 | chr21:15295624-15295806 | K562 | blood: | n/a | n/a |
| 50 | CEBPB | chr21:15294348-15294556 | IMR90 | lung: | n/a | n/a |
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr21:15309634-15309684 | RPTEC | kidney: | n/a |
| 2 | chr21:15134491-15134541 | RPTEC | kidney: | n/a |
| 3 | chr21:15069875-15069925 | K562 | blood: | n/a |
| 4 | chr21:15352213-15352263 | BE2_C | brain: | n/a |
| 5 | chr21:15096626-15096676 | ECC-1 | luminal epithelium: | n/a |
| 6 | chr21:15051848-15051898 | SKMC | muscle: | n/a |
| 7 | chr21:15354232-15354282 | GM06990 | blood: | n/a |
| 8 | chr21:15069190-15069240 | U87 | brain: | n/a |
| 9 | chr21:15096010-15096060 | Hela-S3 | cervix: | n/a |
| 10 | chr21:15309634-15309684 | RPTEC | kidney: | n/a |
| 11 | chr21:15134491-15134541 | RPTEC | kidney: | n/a |
| 12 | chr21:15069875-15069925 | K562 | blood: | n/a |
| 13 | chr21:15352213-15352263 | BE2_C | brain: | n/a |
| 14 | chr21:15096626-15096676 | ECC-1 | luminal epithelium: | n/a |
| 15 | chr21:15051848-15051898 | SKMC | muscle: | n/a |
| 16 | chr21:15354232-15354282 | GM06990 | blood: | n/a |
| 17 | chr21:15069190-15069240 | U87 | brain: | n/a |
| 18 | chr21:15096010-15096060 | Hela-S3 | cervix: | n/a |
| 19 | chr21:15080112-15080162 | AG04449 | skin: | fetal |
| 20 | chr21:15149415-15149465 | PANC-1 | pancreas: | n/a |
| 21 | chr21:15149415-15149465 | GM12891 | blood: | n/a |
| 22 | chr21:15112617-15112667 | AG10803 | skin: | n/a |
| 23 | chr21:15220709-15220759 | MCF-7 | breast: | n/a |
| 24 | chr21:15039424-15039474 | SK-N-MC | brain: | n/a |
| 25 | chr21:15135145-15135195 | HRPEpiC | eye: | n/a |
| 26 | chr21:15309634-15309684 | HEK293 | kidney: | embryo |
| 27 | chr21:15144580-15144630 | HRE | kidney: | n/a |
| 28 | chr21:15068553-15068603 | SK-N-SH | brain: | n/a |
| 29 | chr21:14981404-14981454 | HIPEpiC | eye: | n/a |
| 30 | chr21:14982225-14982275 | HUVEC | blood vessel: | n/a |
| 31 | chr21:15071306-15071356 | Jurkat | blood: | n/a |
| 32 | chr21:15309846-15309896 | Hepatocyte | liver: | n/a |
| 33 | chr21:14982350-14982400 | HepG2 | liver: | n/a |
| 34 | chr21:15309634-15309684 | SK-N-SH | brain: | n/a |
| 35 | chr21:15144580-15144630 | GM12891 | blood: | n/a |
| 36 | chr21:15053472-15053522 | GM12878 | blood: | n/a |
| 37 | chr21:15066572-15066622 | HRE | kidney: | n/a |
| 38 | chr21:15035944-15035994 | CMK | blood: | n/a |
| 39 | chr21:15038453-15038503 | IMR90 | lung: | fetal |
| 40 | chr21:15353879-15353929 | MCF-7 | breast: | n/a |
| 41 | chr21:15135580-15135630 | H1-hESC | embryonic stem cell: | embryo |
| 42 | chr21:15194427-15194477 | GM12891 | blood: | n/a |
| 43 | chr21:15352848-15352898 | HUVEC | blood vessel: | n/a |
| 44 | chr21:15147467-15147517 | GM19239 | blood: | n/a |
| 45 | chr21:15092941-15092991 | NHDF-neo | bronchial: | n/a |
| 46 | chr21:15352213-15352263 | HCPEpiC | choroid plexus: | n/a |
| 47 | chr21:15194427-15194477 | HRE | kidney: | n/a |
| 48 | chr21:15309634-15309684 | HMEC | breast: | n/a |
| 49 | chr21:15077562-15077612 | HCT-116 | colon: | n/a |
| 50 | chr21:15077562-15077612 | SK-N-SH | brain: | n/a |
| No data |
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-LIPI-4 | chr21:15335061-15335192 | NONHSAT081133 |
| 2 | lnc-LIPI-4 | chr21:15342294-15342324 | NONHSAT081131 |
| 3 | lnc-LIPI-4 | chr21:15313136-15313299 | NONHSAT081132 |
| 4 | lnc-LIPI-7 | chr21:15217426-15217595 | NONHSAT081125 |
| 5 | lnc-LIPI-3 | chr21:15355017-15355220 | expReg_chr21_329_- |
| 6 | lnc-BAGE4-13 | chr21:15056956-15057423 | expReg_chr21_194_- |
| 7 | lnc-LIPI-4 | chr21:15323388-15323460 | NONHSAT081131 |
| 8 | lnc-LIPI-4 | chr21:15344317-15344450 | NONHSAT081133 |
| 9 | lnc-LIPI-4 | chr21:15342294-15342431 | NONHSAT081133 |
| 10 | lnc-POTED-11 | chr21:15265662-15265761 | NONHSAT081129 |
| 11 | lnc-RBM11-9 | chr21:15361727-15362029 | NONHSAT081139 |
| 12 | lnc-LIPI-4 | chr21:15339702-15339757 | NONHSAT081133 |
| 13 | lnc-BAGE4-12 | chr21:15047515-15047653 | NONHSAT081117 |
| 14 | lnc-POTED-11 | chr21:15286426-15287046 | NONHSAT081129 |
| 15 | lnc-LIPI-4 | chr21:15311695-15311749 | NONHSAT081132 |
| 16 | lnc-POTED-8 | chr21:15211439-15211730 | NONHSAT081121 |
| 17 | lnc-LIPI-4 | chr21:15317360-15317464 | NONHSAT081132 |
| 18 | lnc-LIPI-9 | chr21:15116918-15118607 | l_2168_chr21:15116917-15119815_placenta |
| 19 | lnc-LIPI-9 | chr21:15119715-15119817 | l_2168_chr21:15116917-15119815_placenta |
| 20 | lnc-POTED-2 | chr21:15143886-15144061 | XLOC_013860 |
| 21 | lnc-BAGE4-12 | chr21:15047992-15048057 | NONHSAT081116 |
| 22 | lnc-LIPI-4 | chr21:15323553-15323581 | NONHSAT081131 |
| 23 | lnc-LIPI-4 | chr21:15316065-15316183 | NONHSAT081133 |
| 24 | lnc-POTED-5 | chr21:15035025-15035149 | NONHSAT081114 |
| 25 | lnc-LIPI-4 | chr21:15310267-15310388 | NONHSAT081131 |
| 26 | lnc-LIPI-4 | chr21:15335061-15335106 | NONHSAT081132 |
| 27 | lnc-POTED-6 | chr21:15055902-15056343 | NONHSAT081118 |
| 28 | lnc-POTED-2 | chr21:15142253-15142534 | XLOC_013860 |
| 29 | lnc-LIPI-4 | chr21:15323553-15323581 | NONHSAT081132 |
| 30 | lnc-BAGE4-12 | chr21:15045054-15045100 | NONHSAT081117 |
| 31 | lnc-LIPI-7 | chr21:15217326-15217595 | NONHSAT081124 |
| 32 | lnc-LIPI-7 | chr21:15215457-15215753 | NONHSAT147184 |
| 33 | lnc-LIPI-4 | chr21:15323388-15323460 | NONHSAT081133 |
| 34 | lnc-POTED-9 | chr21:15240747-15241288 | NONHSAT081122 |
| 35 | lnc-LIPI-4 | chr21:15317360-15317430 | NONHSAT081131 |
| 36 | lnc-LIPI-4 | chr21:15323388-15323460 | NONHSAT081132 |
| 37 | lnc-LIPI-4 | chr21:15311567-15311749 | NONHSAT081131 |
| 38 | lnc-LIPI-7 | chr21:15216343-15216456 | NONHSAT081124 |
| 39 | lnc-LIPI-4 | chr21:15313136-15313299 | NONHSAT081131 |
| 40 | lnc-LIPI-7 | chr21:15216343-15216385 | NONHSAT147184 |
| 41 | lnc-POTED-6 | chr21:15057030-15057282 | NONHSAT081118 |
| 42 | lnc-POTED-11 | chr21:15268407-15268509 | NONHSAT081129 |
| 43 | lnc-POTED-5 | chr21:15048216-15048672 | NONHSAT081114 |
| 44 | lnc-BAGE4-12 | chr21:15041937-15042566 | NONHSAT081116 |
| 45 | lnc-LIPI-7 | chr21:15219080-15219270 | NONHSAT081124 |
| 46 | lnc-POTED-9 | chr21:15212726-15212964 | NONHSAT081122 |
| 47 | lnc-BAGE4-10 | chr21:15024549-15026514 | NONHSAT081113 |
| 48 | lnc-LIPI-7 | chr21:15215454-15215753 | NONHSAT081124 |
| 49 | lnc-LIPI-7 | chr21:15218334-15218462 | NONHSAT081124 |
| 50 | lnc-BAGE4-10 | chr21:15023866-15023904 | NONHSAT081113 |
| miRNA name | Chromosome Location | mirBase accession |
|---|---|---|
| hsa-miR-3118 | chr21:15017105-15017127 | MIMAT0014980_5 |
| hsa-miR-8069 | chr21:15096563-15096585 | MIMAT0030996 |
| No data |
| Variant related genes | Relation type |
|---|---|
| PPP6R2P1 | TF binding region |
| FEM1AP1 | TF binding region |
| ENSG00000269011 | TF binding region |
| TERF1P1 | TF binding region |
| RNU6-954P | TF binding region |
| ZNF114P1 | TF binding region |
| RNU6-286P | TF binding region |
| ENSG00000224922 | TF binding region |
| NF1P3 | TF binding region |
| SNX18P13 | TF binding region |
| FAM207CP | TF binding region |
| GXYLT1P2 | TF binding region |
| ENSG00000266838 | TF binding region |
| CXADRP1 | TF binding region |
| RHOT1P2 | TF binding region |
| GRAMD4P1 | TF binding region |
| POTED | TF binding region |
| CNN2P7 | TF binding region |
| MIR3118-5 | TF binding region |
| CYP4F29P | TF binding region |
| ANKRD20A11P | TF binding region |
| PPP6R2P1 | CpG island |
| FEM1AP1 | CpG island |
| ENSG00000269011 | CpG island |
| TERF1P1 | CpG island |
| RNU6-954P | CpG island |
| ZNF114P1 | CpG island |
| RNU6-286P | CpG island |
| ENSG00000224922 | CpG island |
| NF1P3 | CpG island |
| SNX18P13 | CpG island |
| FAM207CP | CpG island |
| GXYLT1P2 | CpG island |
| ENSG00000266838 | CpG island |
| CXADRP1 | CpG island |
| RHOT1P2 | CpG island |
| GRAMD4P1 | CpG island |
| POTED | CpG island |
| CNN2P7 | CpG island |
| MIR3118-5 | CpG island |
| CYP4F29P | CpG island |
| ANKRD20A11P | CpG island |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs371777867 | chr21:14980750-14980751 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs57781972 | chr21:14980870-14980871 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs144123401 | chr21:14981206-14981207 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs369126636 | chr21:14981258-14981259 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs376040564 | chr21:14981405-14981406 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs370801593 | chr21:14981413-14981414 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs143206403 | chr21:14982011-14982012 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs181690718 | chr21:14982054-14982055 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs57847556 | chr21:14982068-14982069 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs9974727 | chr21:14982094-14982095 | Inactive region | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs9983911 | chr21:14982098-14982099 | Inactive region | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs9977514 | chr21:14982114-14982115 | Inactive region | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs9977518 | chr21:14982119-14982120 | Inactive region | TF binding regionCpG island | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs534924023 | chr21:14982152-14982153 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs7280109 | chr21:14982247-14982248 | Inactive region | CpG island | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs200001543 | chr21:14982409-14982410 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs117410873 | chr21:14983098-14983099 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs200014589 | chr21:14983103-14983104 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs557088046 | chr21:14983139-14983140 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs145894121 | chr21:14983175-14983176 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs189617651 | chr21:14989314-14989315 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs201401420 | chr21:14990665-14990666 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs141173804 | chr21:14990723-14990724 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs200577466 | chr21:14990914-14990915 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs62211803 | chr21:14990966-14990967 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs201119249 | chr21:14992448-14992449 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs56325027 | chr21:14992475-14992476 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs199741712 | chr21:14992517-14992518 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs202091441 | chr21:14992518-14992519 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs201338602 | chr21:14992581-14992582 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs375391659 | chr21:14993371-14993372 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs369306643 | chr21:14993502-14993503 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs372620486 | chr21:14993692-14993693 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs28888521 | chr21:15017183-15017184 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs4098544 | chr21:15017198-15017199 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs28782309 | chr21:15017238-15017239 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs4098543 | chr21:15017325-15017326 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs8130773 | chr21:15018075-15018076 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs561562900 | chr21:15019674-15019675 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs564940135 | chr21:15019685-15019686 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs150122361 | chr21:15019686-15019687 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs113442196 | chr21:15019706-15019707 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs527390756 | chr21:15019782-15019783 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs62211849 | chr21:15019794-15019795 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs570038916 | chr21:15020534-15020535 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs532538902 | chr21:15020535-15020536 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs140972862 | chr21:15020591-15020592 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 48 | rs199622388 | chr21:15020625-15020626 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs118131969 | chr21:15020650-15020651 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs112585409 | chr21:15020679-15020680 | Inactive region | TF binding region | 1 gene(s) | 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 | 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 |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Melanoma | 17363583 | CNVD |
| T-cell lymphomas | 22341440 | CNVD |
| Pancreatic cancer | 17952125 | 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 | chr21:14983000-14983200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr21:15035600-15036200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr21:15056200-15058400 | Enhancers | Liver | Liver |
| 4 | chr21:15058400-15060200 | Weak transcription | Liver | Liver |
| 5 | chr21:15060200-15062000 | Enhancers | Liver | Liver |
| 6 | chr21:15066000-15068800 | Weak transcription | Right Atrium | heart |
| 7 | chr21:15067000-15070200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 8 | chr21:15067600-15069600 | Enhancers | Liver | Liver |
| 9 | chr21:15067600-15069600 | ZNF genes & repeats | Fetal Adrenal Gland | Adrenal Gland |
| 10 | chr21:15067800-15070200 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 11 | chr21:15068200-15069600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 12 | chr21:15068200-15069600 | ZNF genes & repeats | Spleen | Spleen |
| 13 | chr21:15068400-15069400 | Active TSS | Pancreas | Pancrea |
| 14 | chr21:15068600-15068800 | Bivalent Enhancer | Breast Myoepithelial Primary Cells | Breast |
| 15 | chr21:15068600-15068800 | Bivalent/Poised TSS | Colon Smooth Muscle | Colon |
| 16 | chr21:15068600-15069800 | Enhancers | Placenta | Placenta |
| 17 | chr21:15068800-15069000 | Bivalent/Poised TSS | ES-WA7 Cell Line | embryonic stem cell |
| 18 | chr21:15068800-15069000 | Flanking Active TSS | Skeletal Muscle Male | skeletal muscle |
| 19 | chr21:15068800-15069400 | Bivalent/Poised TSS | ES-I3 Cell Line | embryonic stem cell |
| 20 | chr21:15068800-15069400 | Active TSS | Brain Anterior Caudate | brain |
| 21 | chr21:15068800-15069400 | Active TSS | Colon Smooth Muscle | Colon |
| 22 | chr21:15068800-15069400 | Active TSS | K562 | blood |
| 23 | chr21:15068800-15069600 | Bivalent/Poised TSS | Breast Myoepithelial Primary Cells | Breast |
| 24 | chr21:15068800-15069600 | Active TSS | Brain Inferior Temporal Lobe | brain |
| 25 | chr21:15068800-15069600 | Active TSS | Right Atrium | heart |
| 26 | chr21:15068800-15069800 | Bivalent/Poised TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 27 | chr21:15069000-15069600 | Active TSS | Skeletal Muscle Male | skeletal muscle |
| 28 | chr21:15069000-15069600 | Active TSS | A549 | lung |
| 29 | chr21:15069200-15069400 | Flanking Active TSS | Stomach Smooth Muscle | stomach |
| 30 | chr21:15069200-15069600 | Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 31 | chr21:15069200-15069600 | Active TSS | Primary mononuclear cells fromperipheralblood | Blood |
| 32 | chr21:15069200-15069600 | Bivalent/Poised TSS | Brain Cingulate Gyrus | brain |
| 33 | chr21:15069200-15069600 | Bivalent/Poised TSS | Left Ventricle | heart |
| 34 | chr21:15069200-15069800 | Bivalent/Poised TSS | Brain Dorsolateral Prefrontal Cortex | brain |
| 35 | chr21:15069400-15069600 | ZNF genes & repeats | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 36 | chr21:15069400-15069600 | Bivalent/Poised TSS | Brain Anterior Caudate | brain |
| 37 | chr21:15069400-15069600 | Enhancers | Colon Smooth Muscle | Colon |
| 38 | chr21:15069400-15069600 | Active TSS | Stomach Smooth Muscle | stomach |
| 39 | chr21:15069400-15069600 | Flanking Active TSS | K562 | blood |
| 40 | chr21:15069400-15069800 | Flanking Active TSS | Pancreas | Pancrea |
| 41 | chr21:15069600-15069800 | Bivalent Enhancer | Breast Myoepithelial Primary Cells | Breast |
| 42 | chr21:15069600-15070000 | Weak transcription | Spleen | Spleen |
| 43 | chr21:15069600-15070600 | Weak transcription | Liver | Liver |
| 44 | chr21:15069800-15077000 | Weak transcription | Pancreas | Pancrea |
| 45 | chr21:15070600-15071000 | Enhancers | Liver | Liver |
| 46 | chr21:15071800-15072600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 47 | chr21:15072600-15073800 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 48 | chr21:15073800-15074400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 49 | chr21:15076600-15077000 | Weak transcription | Spleen | Spleen |
| 50 | chr21:15076600-15077800 | Active TSS | Skeletal Muscle Male | skeletal muscle |






