Variant report
| Variant | esv3369427 |
|---|---|
| Chromosome Location | chr10:5304029-5304272 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7906097 | chr10:5304053-5304054 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs370866771 | chr10:5304074-5304075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs529886350 | chr10:5304075-5304076 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs541720474 | chr10:5304087-5304088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs75229257 | chr10:5304088-5304089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189961950 | chr10:5304102-5304103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs142215069 | chr10:5304107-5304108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs113796684 | chr10:5304121-5304122 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs570376110 | chr10:5304176-5304177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs146389955 | chr10:5304177-5304178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs202201877 | chr10:5304197-5304198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs546389157 | chr10:5304210-5304211 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs12240608 | chr10:5304221-5304222 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs139774757 | chr10:5304267-5304268 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Sudden cardiac death | 19188705 | CNVD |
| Digeorge syndrome | 22283845 | CNVD |
| Cancer | 21129771 | 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 |
| Breast cancer | 17133270 | 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 |
| Prostate cancer | 18632612 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:5302400-5304400 | Weak transcription | HepG2 | liver |
| 2 | chr10:5303200-5305000 | Weak transcription | Liver | Liver |
| 3 | chr10:5303400-5307400 | Weak transcription | A549 | lung |
