Variant report
| Variant | nsv518630 |
|---|---|
| Chromosome Location | chr20:15509110-15509729 |
| 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 | rs6110655 | chr20:15509110-15509111 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs563377187 | chr20:15509135-15509136 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs531031615 | chr20:15509227-15509228 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs549218682 | chr20:15509261-15509262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs561232117 | chr20:15509309-15509310 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs111770709 | chr20:15509312-15509313 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs117779721 | chr20:15509325-15509326 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs75333456 | chr20:15509341-15509342 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs150428306 | chr20:15509343-15509344 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs201466631 | chr20:15509370-15509371 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs553012572 | chr20:15509371-15509372 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs11478758 | chr20:15509382-15509383 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs17681294 | chr20:15509412-15509413 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs78566857 | chr20:15509432-15509433 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs569358054 | chr20:15509455-15509456 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs537111152 | chr20:15509478-15509479 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs555061347 | chr20:15509550-15509551 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs573274752 | chr20:15509581-15509582 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs544090171 | chr20:15509603-15509604 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs77067014 | chr20:15509632-15509633 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs76962737 | chr20:15509637-15509638 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs577861005 | chr20:15509644-15509645 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs554207350 | chr20:15509728-15509729 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs6043347 | chr20:15509729-15509730 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 16397240 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 19627613 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | CNVD |
| Glaucoma | 21310917 | CNVD |
| Alagille syndrome | 22470819 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Alagille syndrome | 17576883 | CNVD |
| Anaplastic large cell lymphoma | 18179710 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ewing''s sarcoma | 18628472 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Kabuki syndrome | 21720541 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Cancer | 20164919 | CNVD |
| Multiple sclerosis | 20663923 | CNVD |
| Schizophrenia | 20663923 | CNVD |
| brain infarct | 20663923 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Cancer | 20164920 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:15509000-15509400 | Enhancers | Ovary | ovary |
| 2 | chr20:15509000-15509800 | Enhancers | Placenta | Placenta |
| 3 | chr20:15509000-15510000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 4 | chr20:15509200-15509800 | Enhancers | GM12878-XiMat | blood |
