Variant report
| Variant | esv3448926 |
|---|---|
| Chromosome Location | chr3:146527564-146527861 |
| 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 | rs537901624 | chr3:146527567-146527568 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs9289733 | chr3:146527585-146527586 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs180948005 | chr3:146527610-146527611 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs111933983 | chr3:146527614-146527615 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs150080093 | chr3:146527624-146527625 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs529767456 | chr3:146527635-146527636 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs78810817 | chr3:146527677-146527678 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs547861589 | chr3:146527735-146527736 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs373980729 | chr3:146527745-146527746 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs190414142 | chr3:146527749-146527750 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs546560595 | chr3:146527788-146527789 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs564831187 | chr3:146527843-146527844 | Weak transcription 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 | chr3:146519600-146532800 | Weak transcription | NHLF | lung |
| 2 | chr3:146522400-146531200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 3 | chr3:146523000-146531000 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 4 | chr3:146523000-146531000 | Weak transcription | NHDF-Ad | bronchial |
| 5 | chr3:146527400-146528000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 6 | chr3:146527600-146527800 | Enhancers | Fetal Heart | heart |
