Variant report
| Variant | esv2334960 |
|---|---|
| Chromosome Location | chr12:38729401-38730986 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs538884420 | chr12:38729403-38729404 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs192017369 | chr12:38729459-38729460 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs574762360 | chr12:38729507-38729508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs113060960 | chr12:38729537-38729538 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs1386573 | chr12:38729542-38729543 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 6 | rs570598287 | chr12:38729564-38729565 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs574812509 | chr12:38729572-38729573 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs532680050 | chr12:38729606-38729607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs184792745 | chr12:38729647-38729648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs559526584 | chr12:38729686-38729687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs528278502 | chr12:38729764-38729765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs190619200 | chr12:38729776-38729777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs79031489 | chr12:38729796-38729797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs181033059 | chr12:38729817-38729818 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs1843878 | chr12:38729825-38729826 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs539496327 | chr12:38729829-38729830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs5797566 | chr12:38729867-38729868 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs397780586 | chr12:38729876-38729877 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs1843879 | chr12:38729899-38729900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs550605003 | chr12:38729903-38729904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs6582619 | chr12:38729904-38729905 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 22 | rs11183390 | chr12:38729942-38729943 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 23 | rs185920452 | chr12:38729959-38729960 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs576217045 | chr12:38729986-38729987 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| 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 |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | 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 |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 20858243 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:38729400-38730000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
