Variant report
| Variant | esv7668 |
|---|---|
| Chromosome Location | chr4:26308711-26308873 |
| 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:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs539580495 | chr4:26308711-26308712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs577761830 | chr4:26308725-26308726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs188659882 | chr4:26308749-26308750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs79992816 | chr4:26308757-26308758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs145673122 | chr4:26308791-26308792 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs17644283 | chr4:26308792-26308793 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 7 | rs556088137 | chr4:26308809-26308810 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs73113365 | chr4:26308825-26308826 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs572619838 | chr4:26308838-26308839 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs142740931 | chr4:26308870-26308871 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs193267407 | chr4:26308873-26308874 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Cancer | 21637783 | CNVD |
| Melanoma | 21693616 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 21183584 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Breast cancer | 17133270 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 22183965 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Cancer | 22183965 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:26301600-26320600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr4:26304600-26308800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 3 | chr4:26306800-26313400 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
| 4 | chr4:26308800-26309000 | Enhancers | NHDF-Ad | bronchial |
| 5 | chr4:26308800-26309200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 6 | chr4:26308800-26309200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 7 | chr4:26308800-26309200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 8 | chr4:26308800-26309600 | Enhancers | Colon Smooth Muscle | Colon |
