Variant report
| Variant | nsv965112 |
|---|---|
| Chromosome Location | chr3:102305402-102307588 |
| 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:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs75663665 | chr3:102305411-102305412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs535028300 | chr3:102305444-102305445 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs80023980 | chr3:102305460-102305461 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs147811456 | chr3:102305510-102305511 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs536011943 | chr3:102305587-102305588 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs557179934 | chr3:102305610-102305611 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs74326953 | chr3:102305631-102305632 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs180992439 | chr3:102305650-102305651 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs564519033 | chr3:102305656-102305657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs573255168 | chr3:102305699-102305700 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs548006063 | chr3:102305749-102305750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs376319351 | chr3:102305754-102305755 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs1284722 | chr3:102305765-102305766 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs536707943 | chr3:102305835-102305836 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs191070749 | chr3:102305836-102305837 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs529872056 | chr3:102305886-102305887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs377194939 | chr3:102305889-102305890 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs182050594 | chr3:102305894-102305895 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs6805491 | chr3:102305909-102305910 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs6797291 | chr3:102305912-102305913 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs538295890 | chr3:102305971-102305972 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs961832 | chr3:102305981-102305982 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs138878653 | chr3:102305985-102305986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs367967125 | chr3:102305986-102305987 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs570142330 | chr3:102305999-102306000 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| microdeletion syndrome | 22180640 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:102305400-102306000 | Enhancers | Liver | Liver |
