Variant report
| Variant | esv3417275 |
|---|---|
| Chromosome Location | chr8:112410176-112413774 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs143311719 | chr8:112410215-112410216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs572392791 | chr8:112410220-112410221 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs540668017 | chr8:112410292-112410293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs557330269 | chr8:112410301-112410302 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs538940924 | chr8:112410309-112410310 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs543112925 | chr8:112410335-112410336 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs115507232 | chr8:112410371-112410372 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs529102636 | chr8:112410478-112410479 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs542791182 | chr8:112410486-112410487 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs140248761 | chr8:112410523-112410524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs144001195 | chr8:112410567-112410568 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs9656888 | chr8:112410638-112410639 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs564432899 | chr8:112410653-112410654 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs76388413 | chr8:112410673-112410674 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs184317617 | chr8:112410720-112410721 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs570114012 | chr8:112410764-112410765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs551158112 | chr8:112410845-112410846 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs535706731 | chr8:112410849-112410850 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs549158666 | chr8:112410907-112410908 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs565901189 | chr8:112410987-112410988 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs75351309 | chr8:112410994-112410995 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:97)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Gastric cancer | 17908304 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Seminomas | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Testicular cancer | 18059402 | 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 |
| abnormal development | 18461090 | 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 |
| Glioblastoma multiforme | 21080181 | 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 |
| 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 |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 21399628 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Autosomal-dominant progressive external ophthalmoplegia | 19664747 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Congenital diaphragmatic hernia | 21525063 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Papillary thyroid cancer | 17515504 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:112409800-112410200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 2 | chr8:112409800-112410600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr8:112410000-112410800 | Enhancers | Fetal Heart | heart |
| 4 | chr8:112410000-112411000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 5 | chr8:112410200-112410600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 6 | chr8:112410200-112410600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 7 | chr8:112410200-112410600 | Enhancers | Pancreas | Pancrea |
| 8 | chr8:112410200-112410800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 9 | chr8:112410200-112410800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 10 | chr8:112410200-112410800 | Enhancers | Primary hematopoietic stem cells | blood |
