Variant report
| Variant | esv3517811 |
|---|---|
| Chromosome Location | chr7:26043713-26043985 |
| 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 | rs12111617 | chr7:26043739-26043740 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs569570543 | chr7:26043743-26043744 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs374700089 | chr7:26043768-26043769 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs71873079 | chr7:26043818-26043819 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs79221382 | chr7:26043830-26043831 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs367846025 | chr7:26043845-26043846 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs78666052 | chr7:26043872-26043873 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs62446302 | chr7:26043887-26043888 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs538580003 | chr7:26043937-26043938 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs558381472 | chr7:26043977-26043978 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs565824059 | chr7:26043982-26043983 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:76)
| Disease | PMID | Source |
|---|---|---|
| Urothelial carcinoma | 18382360 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Cancer | 16751803 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Glioma | 21971842 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Oral cancer | 21386901 | CNVD |
| colon cancer | 17210682 | CNVD |
| Lung adenocarcinoma | 21810691 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Hypothalamic hamartomas | 18252217 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Leukemia | 23979775 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Autism | 22495311 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Cancer | 21637783 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Non-syndromic sensorineural hearing loss | 22570644 | CNVD |
| Cancer | 21183584 | CNVD |
| abnormal development | 18461090 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Williams-beuren syndrome | 22470819 | CNVD |
| Pleomorphic liposarcoma | 18784837 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Breast cancer | 18852474 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:26041800-26045400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr7:26041800-26045800 | Weak transcription | Gastric | stomach |
| 3 | chr7:26042000-26044600 | Weak transcription | Duodenum Mucosa | Duodenum |
| 4 | chr7:26042200-26045400 | Weak transcription | HepG2 | liver |
| 5 | chr7:26042400-26044200 | Weak transcription | Fetal Intestine Large | intestine |
| 6 | chr7:26043600-26043800 | Enhancers | Pancreas | Pancrea |
| 7 | chr7:26043600-26044200 | ZNF genes & repeats | Right Atrium | heart |
| 8 | chr7:26043600-26047600 | Enhancers | Fetal Intestine Small | intestine |
| 9 | chr7:26043800-26045600 | Weak transcription | Pancreas | Pancrea |
