Variant report
| Variant | esv3355411 |
|---|---|
| Chromosome Location | chr12:87452796-87455194 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs534317417 | chr12:87452808-87452809 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs534628430 | chr12:87452818-87452819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs17014369 | chr12:87452862-87452863 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs568117579 | chr12:87452869-87452870 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs188547688 | chr12:87452874-87452875 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs577480153 | chr12:87453002-87453003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs149693313 | chr12:87453014-87453015 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs539650388 | chr12:87453029-87453030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs552980455 | chr12:87453047-87453048 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs72059162 | chr12:87453054-87453055 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs145439421 | chr12:87453175-87453176 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs541773609 | chr12:87453244-87453245 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs561755418 | chr12:87453278-87453279 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs575298952 | chr12:87453280-87453281 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs66606466 | chr12:87453286-87453287 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs11832379 | chr12:87453332-87453333 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs10777020 | chr12:87453375-87453376 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs80340762 | chr12:87453411-87453412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs79547118 | chr12:87453422-87453423 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs11612996 | chr12:87453428-87453429 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs11104256 | chr12:87453470-87453471 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 |
| 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 |
| Acute myeloid leukemia | 21251322 | 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 |
| Ovarian cancer | 21720365 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Melanoma | 17363583 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:87452000-87453600 | Enhancers | Fetal Brain Female | brain |
| 2 | chr12:87452400-87452800 | Enhancers | Fetal Brain Male | brain |
