Variant report
| Variant | esv3530961 |
|---|---|
| Chromosome Location | chr14:20549412-20557210 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:11)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:11 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr14:20556740-20556890 | AG04449 | skin: | n/a | n/a |
| 2 | CTCF | chr14:20556820-20556970 | HEK293 | kidney: | n/a | chr14:20556904-20556922 |
| 3 | CTCF | chr14:20556840-20556990 | MCF-7 | breast: | n/a | chr14:20556904-20556922 |
| 4 | CTCF | chr14:20556922-20556953 | LNCaP | prostate: | n/a | n/a |
| 5 | FOXA2 | chr14:20552808-20553240 | A549 | lung: | n/a | n/a |
| 6 | GATA2 | chr14:20552919-20553154 | K562 | blood: | n/a | n/a |
| 7 | POLR2A | chr14:20552444-20552539 | GM12878 | blood: | n/a | n/a |
| 8 | POLR2A | chr14:20553090-20553279 | K562 | blood: | n/a | n/a |
| 9 | POLR2A | chr14:20552942-20553111 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 10 | RCOR1 | chr14:20550103-20550111 | GM12878 | blood: | n/a | n/a |
| 11 | SPI1 | chr14:20553094-20553241 | K562 | blood: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr14:20530040..20532845-chr14:20547946..20550280,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RNA5SP380 | TF binding region |
| OR4T1P | TF binding region |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs150970436 | chr14:20556759-20556760 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs552879226 | chr14:20556772-20556773 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 3 | rs566688182 | chr14:20556792-20556793 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 4 | rs188558142 | chr14:20556823-20556824 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 5 | rs181603478 | chr14:20556896-20556897 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 6 | rs570652355 | chr14:20556903-20556904 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 7 | rs538090256 | chr14:20556910-20556911 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 8 | rs556204500 | chr14:20556979-20556980 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 20164920 | CNVD |
| 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 |
| Cone-rod dystrophy | 18421352 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Alzheimer''s disease | 21482944 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Heart disease | 21282601 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Cancer | 17440070 | 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 |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
