Variant report
| Variant | nsv519871 |
|---|---|
| Chromosome Location | chr3:134842665-134843286 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs6805145 | chr3:134842665-134842666 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs189648958 | chr3:134842693-134842694 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs9817176 | chr3:134842737-134842738 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs533586720 | chr3:134842817-134842818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs139869441 | chr3:134842837-134842838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs181938286 | chr3:134842856-134842857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs111985329 | chr3:134842885-134842886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs186585083 | chr3:134842889-134842890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs146137998 | chr3:134842915-134842916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs538303743 | chr3:134842956-134842957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs552493499 | chr3:134843058-134843059 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs551870550 | chr3:134843076-134843077 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs140119847 | chr3:134843125-134843126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs539648174 | chr3:134843179-134843180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs552976701 | chr3:134843213-134843214 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs573132116 | chr3:134843214-134843215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs535079769 | chr3:134843219-134843220 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs554895491 | chr3:134843237-134843238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs7627183 | chr3:134843240-134843241 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs113428843 | chr3:134843274-134843275 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs2140766 | chr3:134843286-134843287 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:55)
| 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 |
| Developmental delay | 21147756 | CNVD |
| Amyotrophic lateral sclerosis | 20685689 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:134809200-134855200 | Weak transcription | GM12878-XiMat | blood |
| 2 | chr3:134823000-134880000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr3:134834400-134846600 | Weak transcription | Brain Anterior Caudate | brain |
| 4 | chr3:134842000-134847000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 5 | chr3:134842200-134853200 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
