Variant report
| Variant | nsv974328 |
|---|---|
| Chromosome Location | chr14:37046437-37047668 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr14:37047310-37047320 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr14:37043733..37046735-chr14:37047521..37050393,3 | K562 | blood: | |
| 2 | chr14:37043733..37045700-chr14:37047521..37049850,2 | K562 | blood: | |
| 3 | chr14:37043733..37046735-chr14:37047521..37050393,3 | K562 | blood: | |
| 4 | chr14:37047412..37050390-chr14:37058985..37061085,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RPL29P3 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs57189811 | chr14:37046803-37046804 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs559785186 | chr14:37046806-37046807 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs528584780 | chr14:37046858-37046859 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs548537229 | chr14:37046880-37046881 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs568133094 | chr14:37046887-37046888 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs149076940 | chr14:37046935-37046936 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs549644601 | chr14:37046939-37046940 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs569662933 | chr14:37046945-37046946 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs538437196 | chr14:37046980-37046981 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs564022267 | chr14:37047000-37047001 | Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| 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 |
| Colorectal cancer | 16774939 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 17899364 | 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 |
| 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 |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Lung cancer | 17925434 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 21298110 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 20031968 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Prostate cancer | 21147910 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:37046800-37047000 | Bivalent/Poised TSS | iPS-15b Cell Line | embryonic stem cell |
