Variant report
| Variant | esv3334245 |
|---|---|
| Chromosome Location | chr3:138904114-138904644 |
| 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 | chr3:138893718..138895445-chr3:138902754..138905101,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 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 | rs546512791 | chr3:138904128-138904129 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs560246643 | chr3:138904135-138904136 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs529087712 | chr3:138904146-138904147 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs549200680 | chr3:138904172-138904173 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs568855411 | chr3:138904196-138904197 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs537972567 | chr3:138904204-138904205 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs551379498 | chr3:138904242-138904243 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs4894397 | chr3:138904288-138904289 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs188293056 | chr3:138904322-138904323 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs375327413 | chr3:138904365-138904366 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs531625720 | chr3:138904374-138904375 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs75236327 | chr3:138904385-138904386 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs534080424 | chr3:138904400-138904401 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs372601016 | chr3:138904427-138904428 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs535670918 | chr3:138904428-138904429 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs59758951 | chr3:138904464-138904465 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs575635362 | chr3:138904549-138904550 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs374280756 | chr3:138904597-138904598 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:52)
| 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 |
| Developmental delay | 21147756 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| abnormal development | 18461090 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:138899800-138905200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr3:138900200-138905200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr3:138903400-138907400 | Enhancers | Ovary | ovary |
| 4 | chr3:138903800-138904800 | Enhancers | Fetal Stomach | stomach |
| 5 | chr3:138904200-138905400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
