Variant report
| Variant | nsv979778 |
|---|---|
| Chromosome Location | chr3:102824243-102829327 |
| 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 | rs539545767 | chr3:102824439-102824440 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs577474172 | chr3:102824444-102824445 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs557655728 | chr3:102824456-102824457 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs113124017 | chr3:102824457-102824458 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs534079733 | chr3:102824459-102824460 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs555705570 | chr3:102824473-102824474 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs574846755 | chr3:102824514-102824515 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs187179867 | chr3:102824592-102824593 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs557399363 | chr3:102824612-102824613 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs201034967 | chr3:102824616-102824617 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs140072964 | chr3:102824623-102824624 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs530212892 | chr3:102824641-102824642 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs548313538 | chr3:102824682-102824683 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs533381844 | chr3:102824687-102824688 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs371844170 | chr3:102824688-102824689 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs546318373 | chr3:102824692-102824693 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs564521409 | chr3:102824693-102824694 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs561135109 | chr3:102824715-102824716 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs6790491 | chr3:102824782-102824783 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs16845948 | chr3:102824796-102824797 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs562057616 | chr3:102824842-102824843 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs528827923 | chr3:102824871-102824872 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs75494253 | chr3:102824883-102824884 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs568866891 | chr3:102824887-102824888 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs532879964 | chr3:102824938-102824939 | Active TSS | 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 |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:102824400-102825000 | Active TSS | Fetal Intestine Large | intestine |
