Variant report
| Variant | esv3464261 |
|---|---|
| Chromosome Location | chr3:134659977-134660454 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs182766395 | chr3:134659986-134659987 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs545234447 | chr3:134660043-134660044 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs565231979 | chr3:134660055-134660056 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs527980241 | chr3:134660074-134660075 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs370457116 | chr3:134660088-134660089 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs540985202 | chr3:134660100-134660101 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs6799629 | chr3:134660101-134660102 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs534845405 | chr3:134660108-134660109 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs6775023 | chr3:134660132-134660133 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs375853337 | chr3:134660185-134660186 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs6799875 | chr3:134660196-134660197 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs4100796 | chr3:134660208-134660209 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs6763913 | chr3:134660284-134660285 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs186110763 | chr3:134660317-134660318 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs201844315 | chr3:134660351-134660352 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs6764013 | chr3:134660383-134660384 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs189864764 | chr3:134660398-134660399 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs115173865 | chr3:134660453-134660454 | Weak transcription Enhancers Bivalent Enhancer | 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 |
| 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 |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:134650600-134660600 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 2 | chr3:134656600-134673000 | Weak transcription | GM12878-XiMat | blood |
| 3 | chr3:134657800-134660800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr3:134658200-134669000 | Weak transcription | Fetal Brain Female | brain |
| 5 | chr3:134658600-134660600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 6 | chr3:134659400-134660600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 7 | chr3:134659400-134660800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 8 | chr3:134659600-134661400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 9 | chr3:134660400-134661600 | Bivalent Enhancer | iPS-20b Cell Line | embryonic stem cell |
