Variant report
| Variant | esv3379226 |
|---|---|
| Chromosome Location | chr4:46989154-46989514 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs183934524 | chr4:46989198-46989199 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs370535682 | chr4:46989201-46989202 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs369081516 | chr4:46989232-46989233 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs34063849 | chr4:46989245-46989246 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11330945 | chr4:46989246-46989247 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs397727164 | chr4:46989248-46989249 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs139257649 | chr4:46989292-46989293 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs534825075 | chr4:46989324-46989325 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs4695182 | chr4:46989398-46989399 | Enhancers Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs544621076 | chr4:46989406-46989407 | Enhancers Active TSS Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs578069721 | chr4:46989437-46989438 | Enhancers Active TSS Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs545674855 | chr4:46989461-46989462 | Enhancers Active TSS Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs563083959 | chr4:46989494-46989495 | Enhancers Active TSS Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs4695183 | chr4:46989509-46989510 | Enhancers Active TSS Weak transcription Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:65)
| 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 |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:46987000-46990800 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr4:46988600-46990000 | Enhancers | Primary monocytes fromperipheralblood | blood |
| 3 | chr4:46989000-46989400 | Enhancers | Brain Anterior Caudate | brain |
| 4 | chr4:46989000-46989800 | Enhancers | Monocytes-CD14+_RO01746 | blood |
| 5 | chr4:46989200-46990000 | Active TSS | Brain Angular Gyrus | brain |
| 6 | chr4:46989400-46989600 | Bivalent Enhancer | Fetal Heart | heart |
| 7 | chr4:46989400-46990800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 8 | chr4:46989400-46991200 | Weak transcription | Brain Anterior Caudate | brain |
