Variant report
| Variant | esv3364847 |
|---|---|
| Chromosome Location | chr3:120845705-120846189 |
| 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 | rs115527808 | chr3:120845729-120845730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs78852873 | chr3:120845730-120845731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs181124966 | chr3:120845761-120845762 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs556270117 | chr3:120845770-120845771 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs576046977 | chr3:120845780-120845781 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs76598796 | chr3:120845781-120845782 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs3856576 | chr3:120845812-120845813 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs543769543 | chr3:120845841-120845842 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs376381391 | chr3:120845842-120845843 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs138772233 | chr3:120845903-120845904 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs541299733 | chr3:120845927-120845928 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs184198143 | chr3:120845942-120845943 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs16832121 | chr3:120845944-120845945 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs189787074 | chr3:120846001-120846002 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs563624638 | chr3:120846058-120846059 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs149360017 | chr3:120846065-120846066 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs180864448 | chr3:120846070-120846071 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs542719362 | chr3:120846080-120846081 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs186093962 | chr3:120846088-120846089 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs528486545 | chr3:120846102-120846103 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs9872221 | chr3:120846178-120846179 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| 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 |
| 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 |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Autism | 22241247 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:120833000-120850800 | Weak transcription | Ovary | ovary |
| 2 | chr3:120845400-120845800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr3:120845800-120846600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
