Variant report
| Variant | esv2298513 |
|---|---|
| Chromosome Location | chr3:140297774-140297780 |
| 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 | chr3:140284899..140286878-chr3:140297066..140299043,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs575232628 | chr3:140297774-140297775 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs373848760 | chr3:140297775-140297776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs499781 | chr3:140297776-140297777 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs576515028 | chr3:140297778-140297779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:51)
| 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 |
| 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 |
| 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 |
| microdeletion syndrome | 22180640 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 18645599 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Lung cancer | 16740712 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| abnormal development | 18461090 | CNVD |
| Schizophrenia | 17989066 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:140293200-140299400 | Weak transcription | HSMMtube | muscle |
| 2 | chr3:140294000-140298400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 3 | chr3:140295600-140298400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 4 | chr3:140296400-140299200 | Weak transcription | HSMM | muscle |
| 5 | chr3:140296800-140299800 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 6 | chr3:140297200-140299800 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
