Variant report
| Variant | esv3473372 |
|---|---|
| Chromosome Location | chr6:132697613-132697959 |
| 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:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs541099932 | chr6:132697625-132697626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs111950992 | chr6:132697643-132697644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs185973243 | chr6:132697673-132697674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs545665825 | chr6:132697692-132697693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs562640492 | chr6:132697807-132697808 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs529463386 | chr6:132697809-132697810 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs112363749 | chr6:132697826-132697827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs190091741 | chr6:132697894-132697895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs181433639 | chr6:132697920-132697921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs527675658 | chr6:132697948-132697949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs547797714 | chr6:132697949-132697950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs570841533 | chr6:132697950-132697951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs533429508 | chr6:132697951-132697952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:81)
| Disease | PMID | Source |
|---|---|---|
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 21448237 | CNVD |
| Autism | 22495311 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 19010834 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Ependymoma | 16718352 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Intracranial tumor | 16823260 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Glioma | 21046410 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Zellweger syndrome | 21572526 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Malignant melanoma | 18718029 | CNVD |
| Lung adenocarcinoma | 21935476 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Chondromyxoid Fibroma | 20696777 | CNVD |
| Cancer | 21183584 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Leukemia | 18688285 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:132677400-132701200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 2 | chr6:132682200-132705800 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 3 | chr6:132692000-132701200 | Weak transcription | Osteobl | bone |
| 4 | chr6:132692200-132698400 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 5 | chr6:132692600-132709200 | Weak transcription | Fetal Kidney | kidney |
| 6 | chr6:132693200-132709400 | Weak transcription | Fetal Lung | lung |
| 7 | chr6:132694200-132699600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 8 | chr6:132694400-132705400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 9 | chr6:132694600-132705800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 10 | chr6:132694800-132699200 | Weak transcription | NHDF-Ad | bronchial |
