Variant report
| Variant | esv3395254 |
|---|---|
| Chromosome Location | chr2:35679382-35679888 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs531499662 | chr2:35679391-35679392 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs551594374 | chr2:35679451-35679452 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs536421239 | chr2:35679453-35679454 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs4130089 | chr2:35679475-35679476 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs547198773 | chr2:35679485-35679486 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs567338660 | chr2:35679503-35679504 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs373374308 | chr2:35679518-35679519 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs143795039 | chr2:35679524-35679525 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs28438766 | chr2:35679527-35679528 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs538163400 | chr2:35679534-35679535 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs370867609 | chr2:35679607-35679608 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs533100523 | chr2:35679666-35679667 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs558380983 | chr2:35679674-35679675 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs191995789 | chr2:35679721-35679722 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs558583979 | chr2:35679832-35679833 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17393978 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Leukemia | 18628472 | CNVD |
| Autism | 19521722 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Non-small cell lung cancer | 18927303 | CNVD |
| Hereditary gingival fibromatosis | 19633868 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Autism | 22495309 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:35668600-35680200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr2:35678600-35679400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr2:35679200-35680000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 4 | chr2:35679400-35680000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr2:35679400-35680400 | Enhancers | HMEC | breast |
