Variant report
| Variant | esv3405019 |
|---|---|
| Chromosome Location | chr2:35639648-35640796 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:35636612..35639504-chr2:35640533..35642866,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs189469611 | chr2:35640449-35640450 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs567051514 | chr2:35640451-35640452 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs66955879 | chr2:35640473-35640474 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs529020162 | chr2:35640480-35640481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs556760458 | chr2:35640495-35640496 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs181431405 | chr2:35640518-35640519 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs185958523 | chr2:35640525-35640526 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs191253268 | chr2:35640581-35640582 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs182944339 | chr2:35640606-35640607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs555517188 | chr2:35640622-35640623 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs553141022 | chr2:35640651-35640652 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs2714562 | chr2:35640692-35640693 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs578119009 | chr2:35640715-35640716 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs10192925 | chr2:35640759-35640760 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs554191861 | chr2:35640761-35640762 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs561743896 | chr2:35640788-35640789 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs530556380 | chr2:35640791-35640792 | Enhancers | n/a | n/a | Overlapped CNVs | 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 | chr2:35640400-35641200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 2 | chr2:35640600-35641200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr2:35640600-35641200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
