Variant report
| Variant | nsv599474 |
|---|---|
| Chromosome Location | chr5:114328282-114329175 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs10478217 | chr5:114328282-114328283 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs367989202 | chr5:114328286-114328287 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs10054511 | chr5:114328290-114328291 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs571514659 | chr5:114328312-114328313 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs199955090 | chr5:114328322-114328323 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs529153494 | chr5:114328332-114328333 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs573922650 | chr5:114328401-114328402 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs149057302 | chr5:114328423-114328424 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs556340214 | chr5:114328434-114328435 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs576483058 | chr5:114328495-114328496 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs57056024 | chr5:114328496-114328497 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs550333892 | chr5:114328497-114328498 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs565125993 | chr5:114328528-114328529 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs151135188 | chr5:114328549-114328550 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs541306991 | chr5:114328569-114328570 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs115074437 | chr5:114328595-114328596 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs186187343 | chr5:114328596-114328597 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs548975214 | chr5:114328689-114328690 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs543834047 | chr5:114328704-114328705 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs568814442 | chr5:114328741-114328742 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs190908279 | chr5:114328758-114328759 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs551542649 | chr5:114328762-114328763 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs78063306 | chr5:114328763-114328764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs60558966 | chr5:114328778-114328779 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:74)
| 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 |
| Breast cancer | 17393978 | CNVD |
| Cancer | 21359685 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| adenomatous polyposis | 22470819 | 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 |
| Retinoblastoma | 22278416 | 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 | 16774939 | 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 |
| Neurocytoma | 17123091 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Renal cell carcinoma | 19377443 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:114327800-114328600 | Enhancers | H9 Cell Line | embryonic stem cell |
| 2 | chr5:114328400-114328800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
