Variant report
| Variant | nsv961715 |
|---|---|
| Chromosome Location | chr2:34655524-34663896 |
| 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:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs571751239 | chr2:34659606-34659607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs147505237 | chr2:34659613-34659614 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs557982644 | chr2:34659735-34659736 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs559956885 | chr2:34659754-34659755 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs553685128 | chr2:34659764-34659765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs573823322 | chr2:34659777-34659778 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs34963622 | chr2:34659825-34659826 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs1401852 | chr2:34659886-34659887 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs556378418 | chr2:34659893-34659894 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs575953804 | chr2:34659908-34659909 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs148566108 | chr2:34659934-34659935 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs564573648 | chr2:34659941-34659942 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs571786588 | chr2:34660012-34660013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs33997953 | chr2:34660030-34660031 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs540766812 | chr2:34660045-34660046 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs113326585 | chr2:34660050-34660051 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs529440921 | chr2:34660061-34660062 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs142546856 | chr2:34660071-34660072 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs1401851 | chr2:34660079-34660080 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs369759368 | chr2:34660165-34660166 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs532076214 | chr2:34660173-34660174 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs551775534 | chr2:34660178-34660179 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs80218984 | chr2:34660180-34660181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs191630377 | chr2:34660190-34660191 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs13395414 | chr2:34660195-34660196 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17393978 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | 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 |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Leukemia | 18628472 | CNVD |
| Autism | 19521722 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Non-small cell lung cancer | 18927303 | CNVD |
| Hereditary gingival fibromatosis | 19633868 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Autism | 22495309 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:34659600-34660200 | Enhancers | Gastric | stomach |
