Variant report
| Variant | esv2429026 |
|---|---|
| Chromosome Location | chr3:147028386-147029960 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:147024132..147026356-chr3:147029104..147031588,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs547399063 | chr3:147029603-147029604 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs59516406 | chr3:147029604-147029605 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs397965429 | chr3:147029613-147029614 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs114761629 | chr3:147029627-147029628 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs139725980 | chr3:147029628-147029629 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs115643580 | chr3:147029674-147029675 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs190300572 | chr3:147029707-147029708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs529269526 | chr3:147029739-147029740 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs539339611 | chr3:147029741-147029742 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs386666848 | chr3:147029794-147029795 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs531345559 | chr3:147029803-147029804 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs2062599 | chr3:147029824-147029825 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs561867507 | chr3:147029846-147029847 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs4263262 | chr3:147029855-147029856 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs527473098 | chr3:147029861-147029862 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs372775150 | chr3:147029880-147029881 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs569512441 | chr3:147029956-147029957 | 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 | chr3:147029600-147030000 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 2 | chr3:147029600-147030000 | Enhancers | HSMMtube | muscle |
| 3 | chr3:147029600-147031200 | Enhancers | Fetal Lung | lung |
