Variant report
| Variant | esv3415858 |
|---|---|
| Chromosome Location | chr4:28420314-28421598 |
| 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:26 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs180957983 | chr4:28421008-28421009 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs16880629 | chr4:28421017-28421018 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs560193728 | chr4:28421028-28421029 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs570594883 | chr4:28421044-28421045 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs185425289 | chr4:28421063-28421064 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs16880633 | chr4:28421064-28421065 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs188225965 | chr4:28421083-28421084 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542548594 | chr4:28421097-28421098 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs144554871 | chr4:28421134-28421135 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs572823979 | chr4:28421140-28421141 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs541618473 | chr4:28421263-28421264 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs564705632 | chr4:28421316-28421317 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs533583802 | chr4:28421338-28421339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs543479594 | chr4:28421359-28421360 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs563244590 | chr4:28421364-28421365 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs114327131 | chr4:28421382-28421383 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs139265019 | chr4:28421393-28421394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs565615076 | chr4:28421420-28421421 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs142858515 | chr4:28421459-28421460 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs6854479 | chr4:28421503-28421504 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs56011935 | chr4:28421508-28421509 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs570582519 | chr4:28421516-28421517 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs182057658 | chr4:28421549-28421550 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs16880634 | chr4:28421565-28421566 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs368590367 | chr4:28421590-28421591 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs535839600 | chr4:28421592-28421593 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 21183584 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | 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 |
| Cancer | 22183965 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:28421000-28421600 | Enhancers | Muscle Satellite Cultured Cells | -- |
| 2 | chr4:28421200-28421600 | Enhancers | Placenta Amnion | Placenta Amnion |
