Variant report
| Variant | esv3367144 |
|---|---|
| Chromosome Location | chr3:133043475-133043892 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs373808039 | chr3:133043603-133043604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs557793303 | chr3:133043626-133043627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs181833896 | chr3:133043635-133043636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs58123591 | chr3:133043641-133043642 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs377124049 | chr3:133043647-133043648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs145938283 | chr3:133043655-133043656 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs573795744 | chr3:133043704-133043705 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs111671814 | chr3:133043715-133043716 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs556494438 | chr3:133043736-133043737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs563082259 | chr3:133043751-133043752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs576072008 | chr3:133043752-133043753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs576589729 | chr3:133043763-133043764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs535525383 | chr3:133043774-133043775 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs565406634 | chr3:133043784-133043785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs373571230 | chr3:133043798-133043799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs576942472 | chr3:133043845-133043846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs546572579 | chr3:133043880-133043881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| 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 |
| Hailey-hailey disease | 17597066 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Blepharophimosis-ptosis-epicanthus inversus syndrome | 22067867 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:133043600-133046600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
