Variant report
| Variant | esv3693335 |
|---|---|
| Chromosome Location | chr2:67760072-67762906 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs142199609 | chr2:67761240-67761241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs539763141 | chr2:67761279-67761280 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs556531094 | chr2:67761297-67761298 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs567743383 | chr2:67761319-67761320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11679857 | chr2:67761357-67761358 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs181980252 | chr2:67761359-67761360 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs550225202 | chr2:67761385-67761386 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs541471281 | chr2:67761433-67761434 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs146370492 | chr2:67761438-67761439 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs570232854 | chr2:67761463-67761464 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs533337564 | chr2:67761468-67761469 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs139659067 | chr2:67761471-67761472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs150017994 | chr2:67761479-67761480 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs531576493 | chr2:67761515-67761516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs369788897 | chr2:67761517-67761518 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| Disease | PMID | Source |
|---|---|---|
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Myofibroblastic sarcoma | 19369631 | 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 |
| Ovarian cancer | 21720365 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| small cell lung cancer | 20016488 | 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 |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cancer | 21183584 | CNVD |
| Leukoplakia | 24403051 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:67761200-67761600 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
