Variant report
| Variant | esv12063 |
|---|---|
| Chromosome Location | chr8:69689769-69690246 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7464182 | chr8:69689770-69689771 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs7464209 | chr8:69689779-69689780 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs558889039 | chr8:69689787-69689788 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs572463434 | chr8:69689803-69689804 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs534799778 | chr8:69689804-69689805 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs555072913 | chr8:69689812-69689813 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs574869542 | chr8:69689816-69689817 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs148930347 | chr8:69689873-69689874 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs567013294 | chr8:69689892-69689893 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs59404825 | chr8:69689909-69689910 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs144251868 | chr8:69689915-69689916 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs545146003 | chr8:69689919-69689920 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs564918817 | chr8:69689925-69689926 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs192204412 | chr8:69689942-69689943 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs540749965 | chr8:69689947-69689948 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs560687434 | chr8:69689966-69689967 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs549314138 | chr8:69690041-69690042 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs183190237 | chr8:69690053-69690054 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs529609265 | chr8:69690094-69690095 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs549389444 | chr8:69690120-69690121 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs12675214 | chr8:69690152-69690153 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs146583041 | chr8:69690192-69690193 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs12675220 | chr8:69690221-69690222 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs377481234 | chr8:69690225-69690226 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:100)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| abnormal development | 18461090 | CNVD |
| Cancer | 20164920 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 16751803 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Melanoma | 22183965 | CNVD |
| Cancer | 21949371 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute myeloid leukemia | 21358987 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| head and neck squamous cell carcinoma | 16715129 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Breast cancer | 21399628 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:69688400-69690400 | Enhancers | Liver | Liver |
| 2 | chr8:69689600-69698400 | Weak transcription | Fetal Stomach | stomach |
