Variant report
| Variant | esv3398179 |
|---|---|
| Chromosome Location | chr2:34775148-34776646 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs374012961 | chr2:34775226-34775227 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs368099275 | chr2:34775253-34775254 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs573158660 | chr2:34775271-34775272 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs541981360 | chr2:34775292-34775293 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs562118040 | chr2:34775303-34775304 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs186926489 | chr2:34775315-34775316 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs72790805 | chr2:34775320-34775321 | Flanking Active TSS Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs564270040 | chr2:34775333-34775334 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs370164005 | chr2:34775335-34775336 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs376346626 | chr2:34775336-34775337 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs201207462 | chr2:34775359-34775360 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs202128337 | chr2:34775361-34775362 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs373606815 | chr2:34775379-34775380 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs10190683 | chr2:34775394-34775395 | Flanking Active TSS 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 | chr2:34774200-34775400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 2 | chr2:34774200-34775400 | Enhancers | HMEC | breast |
| 3 | chr2:34775000-34775400 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 4 | chr2:34775000-34775400 | Flanking Active TSS | NHEK | skin |
