Variant report
| Variant | nsv514111 |
|---|---|
| Chromosome Location | chr2:189570107-189578507 |
| 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:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs549749008 | chr2:189570124-189570125 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs571322823 | chr2:189570128-189570129 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs149502669 | chr2:189570279-189570280 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs554045303 | chr2:189570301-189570302 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs698560 | chr2:189570335-189570336 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs186120479 | chr2:189570379-189570380 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs75036885 | chr2:189570388-189570389 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs191840016 | chr2:189570402-189570403 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs543190455 | chr2:189570405-189570406 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs564843014 | chr2:189570422-189570423 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs144288045 | chr2:189570487-189570488 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs541282389 | chr2:189570490-189570491 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs183463930 | chr2:189570519-189570520 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:50)
| 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 |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | 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 |
| Breast cancer | 21364760 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Immune disease | 21076436 | CNVD |
| Immune disease | 21042300 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:189567000-189570200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 2 | chr2:189569400-189570400 | Enhancers | NHDF-Ad | bronchial |
| 3 | chr2:189570200-189570600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
