Variant report
| Variant | nsv437953 |
|---|---|
| Chromosome Location | chr5:51860911-51874704 |
| 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 | rs1585698 | chr5:51860911-51860912 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs555259598 | chr5:51860916-51860917 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs540357411 | chr5:51860924-51860925 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs73753096 | chr5:51860927-51860928 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs114266153 | chr5:51860937-51860938 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs375986809 | chr5:51867800-51867801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs532574415 | chr5:51867827-51867828 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs143581276 | chr5:51867836-51867837 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs566164707 | chr5:51867863-51867864 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs536375727 | chr5:51867906-51867907 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs576265244 | chr5:51867927-51867928 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs540164477 | chr5:51867955-51867956 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs185065283 | chr5:51867979-51867980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs543398969 | chr5:51868028-51868029 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs537708783 | chr5:51868056-51868057 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs78595367 | chr5:51868074-51868075 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs577187927 | chr5:51868082-51868083 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs538261232 | chr5:51868101-51868102 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs143595983 | chr5:51868156-51868157 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs146581841 | chr5:51868157-51868158 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs369436446 | chr5:51868209-51868210 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs16879910 | chr5:51868227-51868228 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs561099518 | chr5:51868352-51868353 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs191035955 | chr5:51868367-51868368 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs17203602 | chr5:51868393-51868394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs543675594 | chr5:51868394-51868395 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs376663569 | chr5:51868414-51868415 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs183268030 | chr5:51868420-51868421 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs532484501 | chr5:51868440-51868441 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs188859591 | chr5:51868455-51868456 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs374902285 | chr5:51868457-51868458 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs559833536 | chr5:51868470-51868471 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs139123927 | chr5:51868496-51868497 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs548402638 | chr5:51868511-51868512 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs570184929 | chr5:51868580-51868581 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs143028637 | chr5:51868600-51868601 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:89)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| 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 |
| Colorectal cancer | 21645411 | CNVD |
| Gastric cancer | 22152101 | CNVD |
| Oesophago-gastric ulcer | 22152101 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| DNA damage stimulus | 22844521 | CNVD |
| DNA repair | 22844521 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Spinal muscular atrophy | 22422766 | CNVD |
| Spinal muscular atrophy | 22558076 | CNVD |
| Spinal muscular atrophy | 21320981 | CNVD |
| Spinal muscular atrophy | 21762474 | CNVD |
| Cancer | 16751803 | CNVD |
| Autism | 22495311 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21183584 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioma | 20126413 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Cancer | 21359685 | CNVD |
| adenomatous polyposis | 22470819 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute myeloid leukemia | 20729466 | 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 |
| Hepatocellular carcinoma | 16750200 | 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 |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:51860400-51861000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr5:51867800-51868600 | Enhancers | Pancreatic Islets | Pancreatic Islet |
