Variant report
| Variant | esv3414521 |
|---|---|
| Chromosome Location | chr14:31223498-31223835 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr14:31222348..31225539-chr14:31226855..31229088,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs201634125 | chr14:31223620-31223621 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs533273522 | chr14:31223651-31223652 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs547480663 | chr14:31223673-31223674 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs370865154 | chr14:31223677-31223678 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs559457737 | chr14:31223707-31223708 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs551359701 | chr14:31223736-31223737 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs548764344 | chr14:31223772-31223773 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs570224373 | chr14:31223786-31223787 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs373842891 | chr14:31223792-31223793 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537763844 | chr14:31223798-31223799 | Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs552938241 | chr14:31223801-31223802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs188164800 | chr14:31223828-31223829 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| Esophageal cancer | 21851588 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Epilepsy | 20736978 | CNVD |
| Mental retardation | 20736978 | CNVD |
| severe speech impairment | 20736978 | CNVD |
| speech impairment | 20736978 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21804112 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Cancer | 21183584 | CNVD |
| Leukoplakia | 24403051 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Chronic myeloid leukemia | 16756668 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Pilocytic astrocytoma | 18670637 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:31223600-31223800 | Flanking Bivalent TSS/Enh | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr14:31223800-31224400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 3 | chr14:31223800-31224800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
