Variant report
| Variant | esv3335462 |
|---|---|
| Chromosome Location | chr14:19242452-19252250 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:14)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:14 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr14:19248982-19249064 | Medullo | brain: | n/a | n/a |
| 2 | CTCF | chr14:19250505-19250618 | LNCaP | prostate: | n/a | n/a |
| 3 | CTCF | chr14:19247020-19247073 | Spleen_OC | spleen: | n/a | n/a |
| 4 | CTCF | chr14:19250213-19250276 | LNCaP | prostate: | n/a | n/a |
| 5 | CTCF | chr14:19243961-19244033 | LNCaP | prostate: | n/a | n/a |
| 6 | EBF1 | chr14:19247268-19247471 | GM12878 | blood: | n/a | n/a |
| 7 | EBF1 | chr14:19245451-19245627 | GM12878 | blood: | n/a | n/a |
| 8 | EP300 | chr14:19246367-19246648 | GM12878 | blood: | n/a | n/a |
| 9 | EP300 | chr14:19247293-19247561 | GM12878 | blood: | n/a | n/a |
| 10 | EP300 | chr14:19248223-19248522 | GM12878 | blood: | n/a | n/a |
| 11 | JUND | chr14:19246440-19246607 | HepG2 | liver: | n/a | n/a |
| 12 | MYC | chr14:19245877-19245979 | HUVEC | blood vessel: | n/a | n/a |
| 13 | SP1 | chr14:19248912-19248999 | HepG2 | liver: | n/a | n/a |
| 14 | ZBTB33 | chr14:19247333-19247471 | HepG2 | liver: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000238442 | 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 | rs186047812 | chr14:19248917-19248918 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs549290335 | chr14:19248932-19248933 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs543682135 | chr14:19248941-19248942 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs534412454 | chr14:19249002-19249003 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs552612135 | chr14:19249036-19249037 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs111890099 | chr14:19249056-19249057 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs112081783 | chr14:19250550-19250551 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs77411081 | chr14:19250576-19250577 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs562540983 | chr14:19250598-19250599 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs567775393 | chr14:19250615-19250616 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| 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 |
| Lung cancer | 18438408 | 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 |
| Schizophrenia | 20967226 | CNVD |
| Autism | 19287141 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Breast cancer | 20932292 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Rett syndrome | 21593744 | CNVD |
| Breast cancer | 20369283 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Incontinentia Pigmenti | 22033527 | 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 |
Chromatin state (count:0 , 50 per page) page:
| No data |
