Variant report
| Variant | nsv511219 |
|---|---|
| Chromosome Location | chr3:145643853-145645683 |
| 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 | rs6762748 | chr3:145643853-145643854 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs546268249 | chr3:145643871-145643872 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs144207252 | chr3:145643875-145643876 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs1398780 | chr3:145643928-145643929 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 5 | rs146536363 | chr3:145643931-145643932 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs190067947 | chr3:145643940-145643941 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs528915497 | chr3:145643960-145643961 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs369929948 | chr3:145644007-145644008 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs181143292 | chr3:145644013-145644014 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs960451 | chr3:145644014-145644015 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs141002264 | chr3:145644041-145644042 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs551122704 | chr3:145644062-145644063 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs571088023 | chr3:145644121-145644122 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Colorectal cancer | 18645599 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Blepharophimosis-ptosis-epicanthus inversus syndrome | 22067867 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| abnormal development | 18461090 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Autism | 18923514 | CNVD |
| Autism | 22241247 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Autism | 21956041 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:145643400-145644200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 2 | chr3:145643800-145644200 | Active TSS | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 3 | chr3:145643800-145644200 | Active TSS | Aorta | Aorta |
