Variant report
| Variant | esv3369937 |
|---|---|
| Chromosome Location | chr4:47619838-47620102 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs4464540 | chr4:47619875-47619876 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs563379846 | chr4:47619892-47619893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs5026274 | chr4:47619936-47619937 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs574912552 | chr4:47619972-47619973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs139818414 | chr4:47619974-47619975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs370026220 | chr4:47619991-47619992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs59286293 | chr4:47619992-47619993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs548983692 | chr4:47619999-47620000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs375525062 | chr4:47620038-47620039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs16860451 | chr4:47620039-47620040 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs370619225 | chr4:47620055-47620056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs529362978 | chr4:47620074-47620075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs181749906 | chr4:47620078-47620079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs138143412 | chr4:47620089-47620090 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs549199331 | chr4:47620090-47620091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Medulloblastoma | 21979893 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | 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 |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Parkinson disease | 21956041 | CNVD |
| Mental retardation | 20522426 | CNVD |
| delayed speech | 20522426 | CNVD |
| growth disorder | 20522426 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Bipolar disorder | 19214233 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:47601800-47641000 | Weak transcription | Fetal Heart | heart |
| 2 | chr4:47605600-47627000 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
| 3 | chr4:47607400-47630200 | Weak transcription | Placenta | Placenta |
| 4 | chr4:47614800-47625600 | Weak transcription | Aorta | Aorta |
| 5 | chr4:47615200-47624800 | Weak transcription | HSMM | muscle |
| 6 | chr4:47618000-47625200 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 7 | chr4:47618000-47641400 | Weak transcription | Left Ventricle | heart |
| 8 | chr4:47618600-47645400 | Weak transcription | Right Ventricle | heart |
