Variant report
| Variant | esv3337040 |
|---|---|
| Chromosome Location | chr2:77350311-77350758 |
| 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:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs71381261 | chr2:77350339-77350340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs373200712 | chr2:77350340-77350341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs72176727 | chr2:77350349-77350350 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs561684535 | chr2:77350362-77350363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs566245144 | chr2:77350366-77350367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs56149151 | chr2:77350370-77350371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs114434934 | chr2:77350384-77350385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs76874399 | chr2:77350411-77350412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs561271073 | chr2:77350433-77350434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200074439 | chr2:77350435-77350436 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs12233119 | chr2:77350458-77350459 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs550138431 | chr2:77350486-77350487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs559469658 | chr2:77350494-77350495 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs115557342 | chr2:77350502-77350503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs538863813 | chr2:77350518-77350519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs146014843 | chr2:77350529-77350530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs138816629 | chr2:77350612-77350613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs190876438 | chr2:77350617-77350618 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs554320241 | chr2:77350621-77350622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs182730985 | chr2:77350664-77350665 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs117738061 | chr2:77350665-77350666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs556468961 | chr2:77350666-77350667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs577941096 | chr2:77350676-77350677 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs376645422 | chr2:77350681-77350682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs143936206 | chr2:77350697-77350698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs112474423 | chr2:77350731-77350732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs572501316 | chr2:77350748-77350749 | 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 |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Epilepsy | 22083797 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:77341600-77351800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr2:77343400-77351800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
