Variant report
| Variant | esv3417189 |
|---|---|
| Chromosome Location | chr8:68424826-68425295 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs193054069 | chr8:68424891-68424892 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs550586189 | chr8:68424921-68424922 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs137977485 | chr8:68424937-68424938 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs142156049 | chr8:68424949-68424950 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs370031956 | chr8:68424950-68424951 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs539230953 | chr8:68424976-68424977 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs184209043 | chr8:68425009-68425010 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs572961034 | chr8:68425034-68425035 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs538908830 | chr8:68425075-68425076 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs535544684 | chr8:68425116-68425117 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs140850168 | chr8:68425159-68425160 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs575525429 | chr8:68425187-68425188 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113776716 | chr8:68425233-68425234 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs1827524 | chr8:68425242-68425243 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs578139377 | chr8:68425263-68425264 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs547444340 | chr8:68425276-68425277 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs138508651 | chr8:68425281-68425282 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:99)
| 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 |
| small cell lung cancer | 20016488 | 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 |
| Aortic dissecting aneurysms | 22263138 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:68418800-68426000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr8:68422000-68425600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr8:68422400-68425400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 4 | chr8:68422600-68425600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 5 | chr8:68422800-68425600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 6 | chr8:68423200-68425600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 7 | chr8:68424000-68425600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 8 | chr8:68424200-68425000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 9 | chr8:68424200-68425000 | Enhancers | Fetal Brain Female | brain |
| 10 | chr8:68424400-68425000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 11 | chr8:68424400-68425000 | Enhancers | Adipose Nuclei | Adipose |
| 12 | chr8:68424800-68434200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 13 | chr8:68424800-68435000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
