Variant report
| Variant | esv3395772 |
|---|---|
| Chromosome Location | chr4:20476591-20476954 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs185313532 | chr4:20476591-20476592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs140764867 | chr4:20476597-20476598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs188454820 | chr4:20476626-20476627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs375734906 | chr4:20476631-20476632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs78509812 | chr4:20476637-20476638 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs550935676 | chr4:20476641-20476642 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs572869282 | chr4:20476711-20476712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs181217991 | chr4:20476777-20476778 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs373851503 | chr4:20476794-20476795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs625614 | chr4:20476800-20476801 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs577879467 | chr4:20476808-20476809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs185826339 | chr4:20476810-20476811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs149801512 | chr4:20476813-20476814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs75160755 | chr4:20476849-20476850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs191743771 | chr4:20476873-20476874 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs560979391 | chr4:20476933-20476934 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs5856561 | chr4:20476940-20476941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs397992476 | chr4:20476954-20476955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| 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 |
| 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 |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 22183965 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ovarian cancer | 17908972 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Breast cancer | 22737080 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:20449600-20486000 | Weak transcription | Fetal Lung | lung |
| 2 | chr4:20464600-20532600 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 3 | chr4:20465000-20495000 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 4 | chr4:20466600-20481800 | Weak transcription | NHDF-Ad | bronchial |
| 5 | chr4:20466600-20484800 | Weak transcription | Osteobl | bone |
| 6 | chr4:20466800-20489200 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 7 | chr4:20466800-20495000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
