Variant report
| Variant | esv2345155 |
|---|---|
| Chromosome Location | chr3:161509630-161510069 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs534813942 | chr3:161509637-161509638 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs531136498 | chr3:161509654-161509655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs534452628 | chr3:161509703-161509704 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs549812163 | chr3:161509725-161509726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs543308666 | chr3:161509726-161509727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569673271 | chr3:161509794-161509795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs9864521 | chr3:161509810-161509811 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs188212341 | chr3:161509814-161509815 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs58566761 | chr3:161509830-161509831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs565635174 | chr3:161509856-161509857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs28555265 | chr3:161509860-161509861 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs554453949 | chr3:161509872-161509873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs574261097 | chr3:161509920-161509921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs78999589 | chr3:161510028-161510029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs557407635 | chr3:161510057-161510058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| 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 |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:161508400-161510800 | Weak transcription | Aorta | Aorta |
| 2 | chr3:161508400-161514000 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
