Variant report
| Variant | esv3410695 |
|---|---|
| Chromosome Location | chr2:191255814-191256321 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:3 , 50 per page) page:
1
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs559345076 | chr2:191256001-191256002 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs10208045 | chr2:191256032-191256033 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs150470401 | chr2:191256033-191256034 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs377092863 | chr2:191256034-191256035 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs563131438 | chr2:191256040-191256041 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs62180963 | chr2:191256049-191256050 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 7 | rs369461779 | chr2:191256078-191256079 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs144640019 | chr2:191256112-191256113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs112087175 | chr2:191256150-191256151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs528037039 | chr2:191256161-191256162 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs145472446 | chr2:191256162-191256163 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs188282148 | chr2:191256225-191256226 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs559072343 | chr2:191256230-191256231 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs148811151 | chr2:191256242-191256243 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs548933600 | chr2:191256282-191256283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs376217367 | chr2:191256299-191256300 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:49)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Immune disease | 21076436 | CNVD |
| Immune disease | 21042300 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:191256000-191256400 | Enhancers | K562 | blood |
