Variant report
| Variant | nsv520244 |
|---|---|
| Chromosome Location | chr3:158172405-158172592 |
| 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 | chr3:158168004..158169712-chr3:158171871..158174520,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs10936142 | chr3:158172405-158172406 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs12631832 | chr3:158172412-158172413 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs557361411 | chr3:158172415-158172416 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs576031796 | chr3:158172477-158172478 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs369684584 | chr3:158172481-158172482 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs144553665 | chr3:158172526-158172527 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs371007489 | chr3:158172572-158172573 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs373563200 | chr3:158172586-158172587 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs6789607 | chr3:158172592-158172593 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:50)
| 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 |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 16547154 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:158156400-158176200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr3:158165600-158172600 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 3 | chr3:158169200-158176000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 4 | chr3:158169600-158182400 | Weak transcription | Primary B cells from cord blood | blood |
| 5 | chr3:158171400-158177800 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
| 6 | chr3:158172400-158173400 | Enhancers | NHDF-Ad | bronchial |
