Variant report
| Variant | nsv516904 |
|---|---|
| Chromosome Location | chr3:161829158-161829492 |
| 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:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12107164 | chr3:161829158-161829159 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs533100027 | chr3:161829183-161829184 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs13086633 | chr3:161829204-161829205 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs62278969 | chr3:161829296-161829297 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs566432969 | chr3:161829362-161829363 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs13087182 | chr3:161829464-161829465 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs9834002 | chr3:161829473-161829474 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs9853727 | chr3:161829492-161829493 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:61)
| 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 |
| Prostate cancer | 18632612 | 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 |
| Bladder cancer | 21909424 | 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:161827600-161831400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr3:161827800-161829400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 3 | chr3:161828800-161829400 | Enhancers | Brain Germinal Matrix | brain |
| 4 | chr3:161829400-161829800 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 5 | chr3:161829400-161834200 | Weak transcription | Brain Germinal Matrix | brain |
