Variant report
| Variant | esv3464983 |
|---|---|
| Chromosome Location | chr4:30057517-30057897 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs545117896 | chr4:30057528-30057529 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs565198580 | chr4:30057539-30057540 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs575601841 | chr4:30057540-30057541 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs544231871 | chr4:30057578-30057579 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs561330967 | chr4:30057593-30057594 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs58336842 | chr4:30057594-30057595 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs546895298 | chr4:30057595-30057596 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs144650091 | chr4:30057602-30057603 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs547625828 | chr4:30057614-30057615 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs532313349 | chr4:30057660-30057661 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs536839751 | chr4:30057666-30057667 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs554714698 | chr4:30057691-30057692 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs148397216 | chr4:30057697-30057698 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs537946001 | chr4:30057754-30057755 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs547920696 | chr4:30057828-30057829 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs543770123 | chr4:30057842-30057843 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs568030108 | chr4:30057848-30057849 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| 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 |
| 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 |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:30057000-30058000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 2 | chr4:30057200-30058000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 3 | chr4:30057400-30058000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr4:30057400-30058200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 5 | chr4:30057600-30057800 | Active TSS | Brain Hippocampus Middle | brain |
| 6 | chr4:30057600-30058000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 7 | chr4:30057600-30058000 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 8 | chr4:30057600-30058200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 9 | chr4:30057600-30058200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 10 | chr4:30057800-30058000 | Flanking Active TSS | Brain Hippocampus Middle | brain |
