Variant report
Variant | nsv975628 |
---|---|
Chromosome Location | chr12:38984309-38990955 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:20)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:20 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr12:38988431-38988556 | Hela-S3 | cervix: | n/a | n/a |
2 | CTCF | chr12:38988469-38988544 | GM10266 | blood: | n/a | n/a |
3 | CTCF | chr12:38988371-38988674 | GM12878 | blood: | n/a | n/a |
4 | CTCF | chr12:38988476-38988548 | GM19239 | blood: | n/a | n/a |
5 | CTCF | chr12:38988437-38988541 | GM13977 | blood: | n/a | n/a |
6 | E2F4 | chr12:38984614-38984757 | MCF10A-Er-Src | breast: | n/a | n/a |
7 | E2F4 | chr12:38986469-38986669 | MCF10A-Er-Src | breast: | n/a | n/a |
8 | MAFF | chr12:38988771-38988937 | HepG2 | liver: | n/a | chr12:38988862-38988880 |
9 | MAFK | chr12:38988737-38988986 | HepG2 | liver: | n/a | chr12:38988863-38988878 |
10 | MAFK | chr12:38988768-38988964 | IMR90 | lung: | n/a | chr12:38988863-38988878 |
11 | MAFK | chr12:38988806-38989002 | HepG2 | liver: | n/a | chr12:38988863-38988878 |
12 | NRF1 | chr12:38988612-38988641 | GM12878 | blood: | n/a | n/a |
13 | POLR2A | chr12:38984968-38985155 | MCF10A-Er-Src | breast: | n/a | n/a |
14 | RAD21 | chr12:38988440-38988640 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | RAD21 | chr12:38988397-38988624 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | RAD21 | chr12:38988376-38988643 | GM12878 | blood: | n/a | n/a |
17 | RAD21 | chr12:38988353-38988661 | Hela-S3 | cervix: | n/a | n/a |
18 | SMC3 | chr12:38988450-38988670 | GM12878 | blood: | n/a | n/a |
19 | STAT3 | chr12:38989799-38989968 | MCF10A-Er-Src | breast: | n/a | n/a |
20 | STAT3 | chr12:38990417-38990526 | MCF10A-Er-Src | breast: | n/a | n/a |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:38990179..38991129-chr4:2331691..2332483,2 | Hela-S3 | cervix: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000258119 | TF binding region |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs17124820 | chr12:38984642-38984643 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs140908841 | chr12:38984663-38984664 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs2730891 | chr12:38984685-38984686 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs575564369 | chr12:38984714-38984715 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs547908511 | chr12:38984718-38984719 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs570304928 | chr12:38984749-38984750 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs137951773 | chr12:38985055-38985056 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs531686508 | chr12:38985057-38985058 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs140889143 | chr12:38985078-38985079 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs571431241 | chr12:38985123-38985124 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs527364256 | chr12:38985124-38985125 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs547489434 | chr12:38985139-38985140 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs368875746 | chr12:38986533-38986534 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs149588286 | chr12:38986563-38986564 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs569564449 | chr12:38986574-38986575 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs115438444 | chr12:38986575-38986576 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs558727165 | chr12:38986647-38986648 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs567968404 | chr12:38988377-38988378 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs185809037 | chr12:38988413-38988414 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs556705012 | chr12:38988445-38988446 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs576987914 | chr12:38988450-38988451 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs61221058 | chr12:38988470-38988471 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs552780286 | chr12:38988474-38988475 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs572931347 | chr12:38988559-38988560 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs541839995 | chr12:38988565-38988566 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs367678118 | chr12:38988606-38988607 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Seminomas | 18059402 | CNVD |
Wilms tumour | 21544195 | CNVD |
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 |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20164919 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Renal cell carcinoma | 18194544 | 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 |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 17603634 | CNVD |
Cancer | 21183584 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Lissencephaly | 21572526 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Autism | 20858243 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Breast cancer | 19602461 | CNVD |
Breast cancer | 17899364 | CNVD |
Cancer | 20164920 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |