Variant report
| Variant | esv3329519 |
|---|---|
| Chromosome Location | chr3:85476487-85479035 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:85476815..85480076-chr3:85489792..85493283,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs199691604 | chr3:85476512-85476513 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs148510229 | chr3:85476516-85476517 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs72907245 | chr3:85476559-85476560 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs182806830 | chr3:85476577-85476578 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs558192110 | chr3:85476579-85476580 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576463981 | chr3:85476605-85476606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs543943281 | chr3:85476606-85476607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562536131 | chr3:85476607-85476608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs574328095 | chr3:85476608-85476609 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs79220957 | chr3:85476669-85476670 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs560040119 | chr3:85476703-85476704 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs187130862 | chr3:85476721-85476722 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs144469104 | chr3:85476749-85476750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs538639341 | chr3:85476828-85476829 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs6808159 | chr3:85476898-85476899 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs372192056 | chr3:85476910-85476911 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs191782380 | chr3:85476913-85476914 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs568646623 | chr3:85476990-85476991 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs548527828 | chr3:85476992-85476993 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:78)
| Disease | PMID | Source |
|---|---|---|
| Glioblastoma multiforme | 21080181 | CNVD |
| Melanoma | 18172304 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Soft tissue tumor | 16732325 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Prostate cancer | 21307934 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:85476400-85477000 | Enhancers | Muscle Satellite Cultured Cells | -- |
