Variant report
| Variant | esv3441440 |
|---|---|
| Chromosome Location | chr2:206244532-206247080 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs28582277 | chr2:206246612-206246613 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs73062561 | chr2:206246626-206246627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs141927700 | chr2:206246636-206246637 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs569466244 | chr2:206246698-206246699 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs536755103 | chr2:206246728-206246729 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs191850399 | chr2:206246741-206246742 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs372227286 | chr2:206246749-206246750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs527675044 | chr2:206246752-206246753 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs369204157 | chr2:206246763-206246764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs555054600 | chr2:206246844-206246845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs573178545 | chr2:206246855-206246856 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs534164388 | chr2:206246869-206246870 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs145113993 | chr2:206246906-206246907 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs183908423 | chr2:206246908-206246909 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs375526400 | chr2:206246928-206246929 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs138991358 | chr2:206246929-206246930 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs575572137 | chr2:206246995-206246996 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs544096141 | chr2:206247015-206247016 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:52)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | 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 |
| Urothelial carcinoma | 21177765 | CNVD |
| Papillary thyroid carcinoma | 22161024 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Cancer | 20164920 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:206246600-206247200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
