Variant report
| Variant | esv3352540 |
|---|---|
| Chromosome Location | chr8:10950725-10951225 |
| 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:36 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs371847495 | chr8:10950729-10950730 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs563529724 | chr8:10950736-10950737 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs553972391 | chr8:10950737-10950738 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs575467988 | chr8:10950751-10950752 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs6601559 | chr8:10950757-10950758 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 6 | rs189040912 | chr8:10950767-10950768 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs528791479 | chr8:10950770-10950771 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs547033016 | chr8:10950798-10950799 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559440158 | chr8:10950799-10950800 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs529807130 | chr8:10950801-10950802 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs139767028 | chr8:10950803-10950804 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs192907381 | chr8:10950807-10950808 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs542642416 | chr8:10950808-10950809 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs552362616 | chr8:10950835-10950836 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs372717641 | chr8:10950840-10950841 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs570612716 | chr8:10950849-10950850 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs149788048 | chr8:10950856-10950857 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs6601560 | chr8:10950866-10950867 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 19 | rs368572410 | chr8:10950906-10950907 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs574531667 | chr8:10950928-10950929 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs535539129 | chr8:10950949-10950950 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs557060531 | chr8:10950964-10950965 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs59229171 | chr8:10950971-10950972 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs74995920 | chr8:10950976-10950977 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs545304142 | chr8:10950995-10950996 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs564706717 | chr8:10950999-10951000 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs573457196 | chr8:10951048-10951049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs144735025 | chr8:10951063-10951064 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs183492032 | chr8:10951067-10951068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs529745663 | chr8:10951153-10951154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs34623605 | chr8:10951175-10951176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs146570234 | chr8:10951176-10951177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs140054751 | chr8:10951194-10951195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs560803472 | chr8:10951195-10951196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs563335662 | chr8:10951201-10951202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs188034903 | chr8:10951208-10951209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:138)
| Disease | PMID | Source |
|---|---|---|
| Crohn''s disease | 19220326 | CNVD |
| Psoriasis | 19220326 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Prostate cancer | 18515986 | CNVD |
| Chronic obstructive pulmonary disease | 20378733 | CNVD |
| Autism | 18414403 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Cervical cancer | 17311676 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Schizophrenia | 20877625 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Heart disease | 21282601 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 22429812 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| Breast cancer | 20940404 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| 8p-syndrome | 17576883 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | 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 |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21509527 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Autism | 22495311 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Seminomas | 18059402 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Gastric cancer | 18160780 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Psoriasis | 20403174 | CNVD |
| Psoriasis | 20663923 | CNVD |
| Crohn''s disease | 16909382 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Crohn''s disease | 20877625 | CNVD |
| Inflammatory disorder | 20877625 | CNVD |
| Cardiac defect | 21933911 | CNVD |
| Psoriasis | 18059266 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Psoriasis | 20877625 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Colorectal cancer | 21128281 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Psoriasis | 18848619 | CNVD |
| Squamous cell cancer | 19047905 | CNVD |
| Colorectal cancer | 17229543 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Immune disease | 21572526 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Kallmann Syndrome 2 | 22470819 | CNVD |
| Developmental disorder | 20461109 | CNVD |
| abnormal development | 18461090 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Gastric cancer | 21811585 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:10949200-10951000 | Enhancers | Stomach Mucosa | stomach |
| 2 | chr8:10950000-10955400 | Weak transcription | Fetal Heart | heart |
| 3 | chr8:10950400-10951000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 4 | chr8:10950600-10951000 | Enhancers | Duodenum Mucosa | Duodenum |
| 5 | chr8:10950600-10954000 | Weak transcription | Pancreas | Pancrea |
| 6 | chr8:10950600-10965000 | Weak transcription | Gastric | stomach |
| 7 | chr8:10951000-10956600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
