Variant report
| Variant | esv3432188 |
|---|---|
| Chromosome Location | chr4:21589954-21592052 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs185145349 | chr4:21590004-21590005 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs146700658 | chr4:21590086-21590087 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs7681243 | chr4:21590104-21590105 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs73252288 | chr4:21590153-21590154 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs75578936 | chr4:21590154-21590155 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs532619790 | chr4:21590157-21590158 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs73252289 | chr4:21590158-21590159 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs562336575 | chr4:21590186-21590187 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs529831353 | chr4:21590193-21590194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs7657287 | chr4:21590260-21590261 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs368208887 | chr4:21590263-21590264 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs11373136 | chr4:21590288-21590289 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs527501595 | chr4:21590355-21590356 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs7681823 | chr4:21590374-21590375 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs540559816 | chr4:21590423-21590424 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs139071400 | chr4:21590431-21590432 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs570765388 | chr4:21590433-21590434 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs531516648 | chr4:21590461-21590462 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs376721003 | chr4:21590476-21590477 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs73252290 | chr4:21590560-21590561 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs142632208 | chr4:21590572-21590573 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs554779584 | chr4:21590594-21590595 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Cancer | 21637783 | CNVD |
| Melanoma | 21693616 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Cancer | 21183584 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Breast cancer | 17133270 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 22183965 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Cancer | 22183965 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:21590000-21590600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 2 | chr4:21590000-21590600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
