Variant report
| Variant | nsv965345 |
|---|---|
| Chromosome Location | chr3:146483866-146486653 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:146477908..146479521-chr3:146482688..146484661,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs528069828 | chr3:146486015-146486016 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs550974073 | chr3:146486016-146486017 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs533318805 | chr3:146486056-146486057 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs78095108 | chr3:146486091-146486092 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs563718729 | chr3:146486115-146486116 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs575839369 | chr3:146486174-146486175 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs75340520 | chr3:146486205-146486206 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542853337 | chr3:146486210-146486211 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs567335448 | chr3:146486211-146486212 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs529943719 | chr3:146486219-146486220 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs190608908 | chr3:146486364-146486365 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs529016062 | chr3:146486365-146486366 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs547392100 | chr3:146486381-146486382 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs144646249 | chr3:146486393-146486394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:146486000-146486400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr3:146486000-146486400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
