Variant report
| Variant | esv3456960 |
|---|---|
| Chromosome Location | chr2:76773094-76776092 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs570544523 | chr2:76775801-76775802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs187684657 | chr2:76775836-76775837 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs147702626 | chr2:76775841-76775842 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs142411336 | chr2:76775847-76775848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs192636509 | chr2:76775856-76775857 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112724305 | chr2:76775865-76775866 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs371239841 | chr2:76775888-76775889 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs183591138 | chr2:76775897-76775898 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs556725685 | chr2:76775898-76775899 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs1915040 | chr2:76775935-76775936 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs186817263 | chr2:76775998-76775999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs560746040 | chr2:76776006-76776007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs572508351 | chr2:76776013-76776014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs192820686 | chr2:76776064-76776065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs561242300 | chr2:76776069-76776070 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs531839822 | chr2:76776071-76776072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs549968827 | chr2:76776072-76776073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs565129776 | chr2:76776083-76776084 | Weak transcription | 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 |
| 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 |
| 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 | chr2:76775800-76776000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr2:76776000-76807000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
