Variant report
| Variant | esv3489567 |
|---|---|
| Chromosome Location | chr2:78976598-78978954 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs575281526 | chr2:78977204-78977205 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs539691604 | chr2:78977320-78977321 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs375075432 | chr2:78977331-78977332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs545769159 | chr2:78977340-78977341 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs369007808 | chr2:78977386-78977387 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs544554742 | chr2:78977391-78977392 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs141928739 | chr2:78977408-78977409 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs551985377 | chr2:78977418-78977419 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs185458842 | chr2:78977451-78977452 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs189586495 | chr2:78977453-78977454 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs180818111 | chr2:78977479-78977480 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs527911410 | chr2:78977480-78977481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs564396877 | chr2:78977517-78977518 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs529390858 | chr2:78977523-78977524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs377256007 | chr2:78977525-78977526 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs549179754 | chr2:78977543-78977544 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs531605381 | chr2:78977573-78977574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs570603631 | chr2:78977641-78977642 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs185666780 | chr2:78977656-78977657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs551683583 | chr2:78977667-78977668 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs189930231 | chr2:78977670-78977671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs150669655 | chr2:78977674-78977675 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs181582259 | chr2:78977738-78977739 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs185740554 | chr2:78977740-78977741 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs549983756 | chr2:78977764-78977765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs192036117 | chr2:78977793-78977794 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | 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 |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Cancer | 17440070 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:78977200-78977800 | Enhancers | Liver | Liver |
