Variant report
| Variant | nsv522248 |
|---|---|
| Chromosome Location | chr3:159295114-159298036 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs1520697 | chr3:159295114-159295115 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs548480018 | chr3:159295134-159295135 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs372059698 | chr3:159295152-159295153 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs537067076 | chr3:159295203-159295204 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs191873076 | chr3:159295207-159295208 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs376733038 | chr3:159295228-159295229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs570954509 | chr3:159295284-159295285 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs183184620 | chr3:159295300-159295301 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs553175818 | chr3:159295307-159295308 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs554435687 | chr3:159295311-159295312 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs370081029 | chr3:159295324-159295325 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs574557856 | chr3:159295357-159295358 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs541999246 | chr3:159295362-159295363 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs577256700 | chr3:159295364-159295365 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs115386316 | chr3:159295382-159295383 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs12108170 | chr3:159298036-159298037 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:55)
| 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 | 21509527 | CNVD |
| Effusion lymphoma | 18079361 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:159295000-159295400 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr3:159295000-159295400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr3:159298000-159298400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
