Variant report
| Variant | esv3334324 |
|---|---|
| Chromosome Location | chr3:134294059-134294577 |
| 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 | rs573579608 | chr3:134294060-134294061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs368383946 | chr3:134294079-134294080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs372030201 | chr3:134294083-134294084 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs554742684 | chr3:134294167-134294168 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs147806489 | chr3:134294191-134294192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs373929339 | chr3:134294203-134294204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs112858673 | chr3:134294231-134294232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs113184646 | chr3:134294235-134294236 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs77003735 | chr3:134294292-134294293 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs141017737 | chr3:134294303-134294304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs188393496 | chr3:134294314-134294315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs67983303 | chr3:134294335-134294336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs142615757 | chr3:134294339-134294340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs369042798 | chr3:134294383-134294384 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs576301646 | chr3:134294422-134294423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs545270702 | chr3:134294478-134294479 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs10804632 | chr3:134294501-134294502 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
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 |
| 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 |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:134269800-134296600 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 2 | chr3:134281600-134297600 | Weak transcription | Gastric | stomach |
| 3 | chr3:134283400-134297200 | Weak transcription | Brain Angular Gyrus | brain |
| 4 | chr3:134293400-134297200 | Weak transcription | Fetal Brain Female | brain |
