Variant report
| Variant | esv3434542 |
|---|---|
| Chromosome Location | chr7:14909677-14911725 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs539375246 | chr7:14911000-14911001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs170093 | chr7:14911020-14911021 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs146057055 | chr7:14911022-14911023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs544369677 | chr7:14911034-14911035 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs561391627 | chr7:14911100-14911101 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs369715411 | chr7:14911108-14911109 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs217558 | chr7:14911110-14911111 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs217559 | chr7:14911119-14911120 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs58737612 | chr7:14911124-14911125 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs532261652 | chr7:14911179-14911180 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs552083903 | chr7:14911180-14911181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs190711789 | chr7:14911182-14911183 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs367893030 | chr7:14911192-14911193 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs548094352 | chr7:14911229-14911230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs111902716 | chr7:14911250-14911251 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs568102529 | chr7:14911257-14911258 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs533673382 | chr7:14911298-14911299 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs547382791 | chr7:14911309-14911310 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs138832143 | chr7:14911331-14911332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs61231693 | chr7:14911369-14911370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:79)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| 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 |
| 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 |
| Prostate cancer | 16573809 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Melanoma | 17363583 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Autism | 18414403 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Pleomorphic liposarcoma | 18784837 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:14911000-14911400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
