Variant report
| Variant | esv3457943 |
|---|---|
| Chromosome Location | chr2:77976710-77977166 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs150250886 | chr2:77976714-77976715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs72928099 | chr2:77976760-77976761 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs377206339 | chr2:77976763-77976764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs191607049 | chr2:77976789-77976790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs112624112 | chr2:77976792-77976793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs138860420 | chr2:77976793-77976794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs546302098 | chr2:77976794-77976795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs370195413 | chr2:77976841-77976842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs372582056 | chr2:77976842-77976843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs548541544 | chr2:77976923-77976924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs566313062 | chr2:77976927-77976928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs561943428 | chr2:77976951-77976952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs183747764 | chr2:77976952-77976953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs550828623 | chr2:77976961-77976962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs76546211 | chr2:77977064-77977065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs375280845 | chr2:77977066-77977067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs12995679 | chr2:77977067-77977068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs57766699 | chr2:77977124-77977125 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs534040920 | chr2:77977131-77977132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs558598171 | chr2:77977136-77977137 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs34571267 | chr2:77977141-77977142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs76154619 | chr2:77977148-77977149 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 |
| Epilepsy | 22083797 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:77975200-77980800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
