Variant report
| Variant | esv2420595 |
|---|---|
| Chromosome Location | chr3:102283575-102284320 |
| 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:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs546592628 | chr3:102283590-102283591 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs374884325 | chr3:102283600-102283601 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570069254 | chr3:102283602-102283603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs187350824 | chr3:102283605-102283606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs558534060 | chr3:102283632-102283633 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576875887 | chr3:102283635-102283636 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs534679939 | chr3:102283657-102283658 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs1284773 | chr3:102283658-102283659 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs572273497 | chr3:102283663-102283664 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs542470415 | chr3:102283706-102283707 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs561097193 | chr3:102283759-102283760 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs576059434 | chr3:102283771-102283772 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| 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 |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:102283400-102283800 | Enhancers | Adipose Nuclei | Adipose |
