Variant report
| Variant | esv3344208 |
|---|---|
| Chromosome Location | chr14:79177570-79177738 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | GATA3 | chr14:79177169-79177610 | SH-SY5Y | brain: | n/a | n/a |
| 2 | PAX5 | chr14:79177403-79177647 | GM12878 | blood: | n/a | n/a |
| 3 | PAX5 | chr14:79177323-79177621 | GM12878 | blood: | n/a | n/a |
| 4 | PAX5 | chr14:79177389-79177626 | GM12878 | blood: | n/a | n/a |
| 5 | PAX5 | chr14:79177405-79177584 | GM12878 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000258874 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:4 , 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 | rs78267524 | chr14:79177609-79177610 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs568310589 | chr14:79177633-79177634 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs376929713 | chr14:79177639-79177640 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs548208013 | chr14:79177731-79177732 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:75)
| 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 |
| 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 |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 22209245 | CNVD |
| Prostate cancer | 22553170 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Glioma | 20126413 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:79165000-79181000 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 2 | chr14:79175000-79177600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 3 | chr14:79175800-79178000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 4 | chr14:79176000-79189000 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
| 5 | chr14:79176600-79188600 | Weak transcription | Brain Anterior Caudate | brain |
| 6 | chr14:79177000-79177600 | Enhancers | Fetal Kidney | kidney |
| 7 | chr14:79177000-79188400 | Weak transcription | Brain Angular Gyrus | brain |
| 8 | chr14:79177200-79187400 | Weak transcription | Brain Germinal Matrix | brain |
| 9 | chr14:79177200-79188000 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
