Variant report
| Variant | esv3469789 |
|---|---|
| Chromosome Location | chr5:116836070-116836385 |
| 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 | rs559359570 | chr5:116836074-116836075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs530510784 | chr5:116836079-116836080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs557561925 | chr5:116836133-116836134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs550205074 | chr5:116836149-116836150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs371284802 | chr5:116836157-116836158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs113871665 | chr5:116836161-116836162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs570089902 | chr5:116836223-116836224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs573012791 | chr5:116836278-116836279 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs539777041 | chr5:116836305-116836306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs546853925 | chr5:116836306-116836307 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs113886785 | chr5:116836335-116836336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs566971971 | chr5:116836358-116836359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs139173662 | chr5:116836361-116836362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs555674409 | chr5:116836373-116836374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs575740271 | chr5:116836374-116836375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs538320176 | chr5:116836375-116836376 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs558221230 | chr5:116836378-116836379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| Disease | PMID | Source |
|---|---|---|
| Metanephric adenoma | 20802469 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Cancer | 16751803 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioma | 20126413 | CNVD |
| Cancer | 22429812 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Leukemia | 17361228 | CNVD |
| Myelodysplastic syndrome | 18508791 | CNVD |
| 5q-syndrome | 17576883 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Cancer | 20164920 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Renal cell carcinoma | 19377443 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Glaucoma | 21310917 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:116834000-116839800 | Weak transcription | NHDF-Ad | bronchial |
| 2 | chr5:116834200-116839600 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
