Variant report
| Variant | esv3470538 |
|---|---|
| Chromosome Location | chr5:80685553-80686546 |
| 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:35 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs564762379 | chr5:80685577-80685578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs530504529 | chr5:80685584-80685585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs2162974 | chr5:80685611-80685612 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs563988543 | chr5:80685657-80685658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs60881437 | chr5:80685734-80685735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs77331140 | chr5:80685760-80685761 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs34623194 | chr5:80685775-80685776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs79197860 | chr5:80685790-80685791 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs76957640 | chr5:80685792-80685793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs369072168 | chr5:80685831-80685832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs13181700 | chr5:80685849-80685850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs13181989 | chr5:80685859-80685860 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs13181707 | chr5:80685865-80685866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs76645547 | chr5:80685895-80685896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs191081648 | chr5:80685923-80685924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs551834009 | chr5:80685932-80685933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs571577445 | chr5:80685991-80685992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs13185752 | chr5:80686018-80686019 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs557035267 | chr5:80686020-80686021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs183393672 | chr5:80686026-80686027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs573603598 | chr5:80686058-80686059 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs185754952 | chr5:80686270-80686271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs13186206 | chr5:80686300-80686301 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs572686639 | chr5:80686304-80686305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs200024460 | chr5:80686346-80686347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs56338608 | chr5:80686357-80686358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs540379871 | chr5:80686385-80686386 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs544805468 | chr5:80686392-80686393 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs565013890 | chr5:80686401-80686402 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs372945605 | chr5:80686468-80686469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs575217645 | chr5:80686481-80686482 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs544203700 | chr5:80686482-80686483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs369664106 | chr5:80686484-80686485 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs560818899 | chr5:80686498-80686499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs554129658 | chr5:80686524-80686525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:82)
| 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 |
| 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 | 22032731 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Ovarian cancer | 20844748 | 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 |
| Oral cancer | 21386901 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Merkel cell carcinoma | 19020549 | 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 |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Tetralogy of Fallot | 22912587 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:80683200-80686600 | Weak transcription | Liver | Liver |
