Variant report
| Variant | esv3368016 |
|---|---|
| Chromosome Location | chr4:31243537-31243869 |
| 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:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs368300965 | chr4:31243548-31243549 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs559571312 | chr4:31243582-31243583 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs73219128 | chr4:31243655-31243656 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs73814537 | chr4:31243701-31243702 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs188845527 | chr4:31243708-31243709 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs531063843 | chr4:31243710-31243711 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs528276923 | chr4:31243715-31243716 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs564481240 | chr4:31243745-31243746 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs138282968 | chr4:31243787-31243788 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| 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 |
| Prostate cancer | 18632612 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Tetralogy of Fallot | 22912587 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:31242200-31243600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr4:31243000-31243600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 3 | chr4:31243000-31243800 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 4 | chr4:31243400-31243800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
