Variant report
| Variant | esv33616 |
|---|---|
| Chromosome Location | chr10:799859-800003 |
| 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:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12220837 | chr10:799861-799862 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs530311761 | chr10:799864-799865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs535770851 | chr10:799868-799869 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs555608885 | chr10:799912-799913 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs56108245 | chr10:799921-799922 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs147118377 | chr10:799966-799967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs35914536 | chr10:799973-799974 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 20164920 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Pilocytic astrocytoma | 18622384 | CNVD |
| Pilomyxoid astrocytoma | 18622384 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Cancer | 21129771 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Digeorge syndrome | 22283845 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Wilms tumour | 19047088 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21183584 | CNVD |
| Barakat syndrome | 22470819 | CNVD |
| Melanoma | 18172304 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Autism | 18414403 | CNVD |
| Malignant melanoma | 18718029 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Melanoma | 17363583 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Breast cancer | 21785460 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Glioblastoma multiforme | 21525872 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Obesity | 19966786 | CNVD |
| Aortic dissecting aneurysms | 22263138 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:796800-801200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr10:799000-801000 | Weak transcription | Pancreas | Pancrea |
| 3 | chr10:800000-800200 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
