Variant report
| Variant | esv3399224 |
|---|---|
| Chromosome Location | chr3:119943312-119943529 |
| 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:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs142918531 | chr3:119943320-119943321 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs34829073 | chr3:119943371-119943372 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs564456445 | chr3:119943386-119943387 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs533192594 | chr3:119943387-119943388 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529745301 | chr3:119943390-119943391 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201257900 | chr3:119943418-119943419 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs550262991 | chr3:119943421-119943422 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs11929146 | chr3:119943453-119943454 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs529509735 | chr3:119943456-119943457 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Prostate cancer | 21965145 | 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 |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| microdeletion syndrome | 22180640 | 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 |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Developmental delay | 22180640 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 20164920 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:119942000-119946000 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 2 | chr3:119942000-119946800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 3 | chr3:119943000-119943400 | Enhancers | Hela-S3 | cervix |
| 4 | chr3:119943000-119944000 | Enhancers | Skeletal Muscle Male | skeletal muscle |
| 5 | chr3:119943200-119944800 | Enhancers | Psoas Muscle | Psoas |
