Variant report
| Variant | esv3463825 |
|---|---|
| Chromosome Location | chr3:162230758-162235556 |
| 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 | chr3:162215860..162218810-chr3:162234701..162237384,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:22 , 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 | rs534902247 | chr3:162232602-162232603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs554874528 | chr3:162232612-162232613 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs10513585 | chr3:162232626-162232627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs543010416 | chr3:162232656-162232657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs556956885 | chr3:162232695-162232696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569015701 | chr3:162232781-162232782 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs545519115 | chr3:162232808-162232809 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs117417072 | chr3:162232856-162232857 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs528626303 | chr3:162232858-162232859 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs542041352 | chr3:162232945-162232946 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs562000198 | chr3:162232998-162232999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs6441510 | chr3:162235210-162235211 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs563378005 | chr3:162235252-162235253 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs993393 | chr3:162235284-162235285 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs993392 | chr3:162235338-162235339 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs558108015 | chr3:162235367-162235368 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs578249154 | chr3:162235418-162235419 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs139659221 | chr3:162235425-162235426 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs560485732 | chr3:162235443-162235444 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs993391 | chr3:162235451-162235452 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs542675417 | chr3:162235518-162235519 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs370915348 | chr3:162235549-162235550 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 16547154 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| Malformation | 19546859 | CNVD |
| Schizophrenia | 19546859 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| epilepsy | 18472482 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Parkinson disease | 21907011 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:162232600-162233000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr3:162235200-162236000 | Enhancers | Dnd41 | blood |
