Variant report
| Variant | esv3389996 |
|---|---|
| Chromosome Location | chr5:117772678-117775626 |
| 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 | rs377238190 | chr5:117775404-117775405 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs370082944 | chr5:117775422-117775423 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs573819236 | chr5:117775427-117775428 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs6896427 | chr5:117775438-117775439 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs188712454 | chr5:117775446-117775447 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs192601276 | chr5:117775450-117775451 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs111993415 | chr5:117775462-117775463 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs534542347 | chr5:117775492-117775493 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs554732170 | chr5:117775506-117775507 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs568301848 | chr5:117775510-117775511 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs77832218 | chr5:117775550-117775551 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs557255039 | chr5:117775554-117775555 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs576522531 | chr5:117775565-117775566 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs573212307 | chr5:117775573-117775574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs545394349 | chr5:117775612-117775613 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs559124149 | chr5:117775618-117775619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs545286185 | chr5:117775622-117775623 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:73)
| 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 |
| Breast cancer | 21509527 | CNVD |
| Autism | 22543975 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:117775400-117779000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr5:117775600-117776000 | Enhancers | NHDF-Ad | bronchial |
