Variant report
| Variant | esv3369485 |
|---|---|
| Chromosome Location | chr4:27938854-27942552 |
| 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 | rs375033368 | chr4:27938932-27938933 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs375055237 | chr4:27938959-27938960 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs550104597 | chr4:27939002-27939003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs539315512 | chr4:27939016-27939017 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs563626546 | chr4:27939017-27939018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs528911157 | chr4:27939029-27939030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs186566656 | chr4:27939047-27939048 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs368930804 | chr4:27939099-27939100 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs565503263 | chr4:27939122-27939123 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs146320047 | chr4:27939127-27939128 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs189454986 | chr4:27939136-27939137 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs139531674 | chr4:27939137-27939138 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs180926223 | chr4:27939172-27939173 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs557326452 | chr4:27939216-27939217 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs144186103 | chr4:27939218-27939219 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs34066070 | chr4:27939260-27939261 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs367945440 | chr4:27939264-27939265 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs73117272 | chr4:27939283-27939284 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs555743021 | chr4:27939346-27939347 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs577090420 | chr4:27939384-27939385 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs572303592 | chr4:27939446-27939447 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs61791082 | chr4:27939535-27939536 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs559550276 | chr4:27939551-27939552 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs577854447 | chr4:27939563-27939564 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs61533681 | chr4:27939588-27939589 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs563514700 | chr4:27939595-27939596 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:27938800-27939600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
