Variant report
| Variant | nsv823704 |
|---|---|
| Chromosome Location | chr6:62389831-62390358 |
| 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:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs371183276 | chr6:62389844-62389845 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs185731721 | chr6:62389879-62389880 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs189801231 | chr6:62390046-62390047 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs374146814 | chr6:62390047-62390048 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs182467879 | chr6:62390116-62390117 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs551973910 | chr6:62390132-62390133 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs79016542 | chr6:62390139-62390140 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs150262464 | chr6:62390152-62390153 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs9449511 | chr6:62390155-62390156 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs113158530 | chr6:62390245-62390246 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs141984169 | chr6:62390308-62390309 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs543533346 | chr6:62390351-62390352 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:71)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 21448237 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Autism | 22495311 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Systemic lupus erythematosus | 17503323 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Cancer | 21637783 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Lung cancer | 19547694 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Follicular lymphoma | 19010834 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Ependymoma | 16718352 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Intracranial tumor | 16823260 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Tetralogy of Fallot | 22912587 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:62389200-62390800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 2 | chr6:62389600-62390000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr6:62389600-62390400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 4 | chr6:62389800-62390800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 5 | chr6:62389800-62392400 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr6:62390000-62391000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 7 | chr6:62390200-62395800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
