Variant report
Variant | nsv963621 |
---|---|
Chromosome Location | chr2:73879429-73880037 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:73878117..73880708-chr2:73881565..73884435,2 | K562 | blood: |
No data |
No data |
No data |
No data |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs552015576 | chr2:73879438-73879439 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs372490299 | chr2:73879444-73879445 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs560589753 | chr2:73879488-73879489 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs367830068 | chr2:73879534-73879535 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs140811368 | chr2:73879538-73879539 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs371355387 | chr2:73879552-73879553 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs567584170 | chr2:73879575-73879576 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs535716435 | chr2:73879620-73879621 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs541621664 | chr2:73879622-73879623 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs550429920 | chr2:73879659-73879660 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs568825461 | chr2:73879699-73879700 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs558381776 | chr2:73879714-73879715 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs557533027 | chr2:73879720-73879721 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs183037872 | chr2:73879721-73879722 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs187287131 | chr2:73879795-73879796 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs115923767 | chr2:73879820-73879821 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs573529685 | chr2:73879831-73879832 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs563390428 | chr2:73879886-73879887 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs191732086 | chr2:73879956-73879957 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs182919328 | chr2:73879974-73879975 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs578251638 | chr2:73879977-73879978 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs187512812 | chr2:73879980-73879981 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs545617580 | chr2:73879981-73879982 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs560560764 | chr2:73879994-73879995 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs193257404 | chr2:73880033-73880034 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Adrenal tumor | 17535989 | CNVD |
Breast cancer | 21264507 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Medulloblastoma | 17522785 | CNVD |
Cancer | 23418310 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Breast cancer | 17603634 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ependymoma | 16718352 | CNVD |
Prostate cancer | 18632612 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Autism | 17483303 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Autism | 22495311 | CNVD |
Autism | 18522746 | CNVD |
Lung cancer | 18438408 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Developmental delay | 21147756 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:73876000-73880800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr2:73878800-73880000 | Enhancers | Liver | Liver |
3 | chr2:73879200-73881600 | Weak transcription | GM12878-XiMat | blood |