Variant report
| Variant | esv3489785 |
|---|---|
| Chromosome Location | chr12:82994250-82994681 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs34061008 | chr12:82994287-82994288 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs17009743 | chr12:82994302-82994303 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs535675169 | chr12:82994314-82994315 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs200281299 | chr12:82994330-82994331 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs371553656 | chr12:82994337-82994338 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576711477 | chr12:82994415-82994416 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs11115311 | chr12:82994418-82994419 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546463298 | chr12:82994460-82994461 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs187271958 | chr12:82994471-82994472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs573273620 | chr12:82994484-82994485 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs113481670 | chr12:82994603-82994604 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs562170850 | chr12:82994628-82994629 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs529339749 | chr12:82994639-82994640 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs377653795 | chr12:82994645-82994646 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs116955823 | chr12:82994665-82994666 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs140857580 | chr12:82994672-82994673 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs12312566 | chr12:82994680-82994681 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:82989600-82995200 | Enhancers | Fetal Heart | heart |
| 2 | chr12:82993600-82994600 | Enhancers | Fetal Lung | lung |
