Variant report
| Variant | esv3407152 |
|---|---|
| Chromosome Location | chr4:20834093-20834285 |
| 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:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs187543556 | chr4:20834116-20834117 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs192314495 | chr4:20834144-20834145 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs577210805 | chr4:20834165-20834166 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs538982867 | chr4:20834166-20834167 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs183843337 | chr4:20834167-20834168 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs575818243 | chr4:20834174-20834175 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs543219511 | chr4:20834175-20834176 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs571698835 | chr4:20834193-20834194 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs147655511 | chr4:20834229-20834230 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540726495 | chr4:20834233-20834234 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs141596260 | chr4:20834269-20834270 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs67155846 | chr4:20834270-20834271 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113234000 | chr4:20834285-20834286 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| Cancer | 20164919 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:20819200-20834400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr4:20822800-20834600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 3 | chr4:20832200-20838000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 4 | chr4:20833400-20834800 | Enhancers | HSMM | muscle |
| 5 | chr4:20833400-20835000 | Enhancers | Muscle Satellite Cultured Cells | -- |
| 6 | chr4:20834000-20834200 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 7 | chr4:20834200-20834600 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
