Variant report
| Variant | nsv822207 |
|---|---|
| Chromosome Location | chr3:102051040-102051664 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs561024740 | chr3:102051059-102051060 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs72946444 | chr3:102051060-102051061 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs543566255 | chr3:102051062-102051063 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs3996289 | chr3:102051122-102051123 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs562388028 | chr3:102051123-102051124 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs184093373 | chr3:102051148-102051149 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs375755930 | chr3:102051193-102051194 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs532155258 | chr3:102051264-102051265 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs537315287 | chr3:102051267-102051268 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs9819718 | chr3:102051323-102051324 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs148119736 | chr3:102051355-102051356 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs530298613 | chr3:102051517-102051518 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs548526566 | chr3:102051519-102051520 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs570252321 | chr3:102051521-102051522 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs66806618 | chr3:102051528-102051529 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs9843713 | chr3:102051586-102051587 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs374358292 | chr3:102051600-102051601 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| 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 |
| Breast cancer | 21785460 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:102050600-102058400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr3:102050800-102052200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 3 | chr3:102051200-102052000 | Enhancers | NHEK | skin |
