Variant report
| Variant | esv3509544 |
|---|---|
| Chromosome Location | chr2:77657596-77659188 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs565861304 | chr2:77658418-77658419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs534553474 | chr2:77658421-77658422 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs375758969 | chr2:77658440-77658441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs183245308 | chr2:77658445-77658446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs533172487 | chr2:77658504-77658505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs76276531 | chr2:77658509-77658510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs537412982 | chr2:77658510-77658511 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs369591990 | chr2:77658512-77658513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs201787504 | chr2:77658604-77658605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs80240029 | chr2:77658638-77658639 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs577345712 | chr2:77658651-77658652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs62162579 | chr2:77658945-77658946 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs553238330 | chr2:77658951-77658952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs573377070 | chr2:77658962-77658963 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs372492052 | chr2:77658977-77658978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs530807927 | chr2:77659010-77659011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs542069445 | chr2:77659017-77659018 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs112712454 | chr2:77659020-77659021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs548919751 | chr2:77659026-77659027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs550841598 | chr2:77659056-77659057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs187912070 | chr2:77659057-77659058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs58689617 | chr2:77659099-77659100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs139925022 | chr2:77659104-77659105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| 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 |
| Epilepsy | 22083797 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:77658400-77662000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
