Variant report
| Variant | nsv968831 |
|---|---|
| Chromosome Location | chr5:59176456-59177388 |
| 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:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs374609114 | chr5:59176523-59176524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs6868567 | chr5:59176574-59176575 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs142665514 | chr5:59176621-59176622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs546495014 | chr5:59176626-59176627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs544653401 | chr5:59176633-59176634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs527918139 | chr5:59176636-59176637 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs191658243 | chr5:59176640-59176641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs183220526 | chr5:59176654-59176655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs547651159 | chr5:59176713-59176714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs186483505 | chr5:59176745-59176746 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs552723233 | chr5:59176827-59176828 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs80230886 | chr5:59176829-59176830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs13162211 | chr5:59176915-59176916 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs555047914 | chr5:59176933-59176934 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs377740981 | chr5:59176938-59176939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs371015530 | chr5:59176939-59176940 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs549460052 | chr5:59176957-59176958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs552801075 | chr5:59177014-59177015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs574952848 | chr5:59177041-59177042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs148541138 | chr5:59177087-59177088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs535430517 | chr5:59177166-59177167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs372583528 | chr5:59177187-59177188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs563934645 | chr5:59177201-59177202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs575962576 | chr5:59177228-59177229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs540504000 | chr5:59177230-59177231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs189838411 | chr5:59177254-59177255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs555259543 | chr5:59177319-59177320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:93)
| 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 |
| 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 |
| Prostate cancer | 21965145 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Cancer | 21359685 | CNVD |
| adenomatous polyposis | 22470819 | 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 |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| abnormal development | 18461090 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neuroticism | 17667963 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:59160800-59189000 | Weak transcription | Aorta | Aorta |
| 2 | chr5:59176200-59182200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
