Variant report
| Variant | esv3381936 |
|---|---|
| Chromosome Location | chr14:69082322-69082759 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr14:69081849..69083731-chr14:69281900..69284171,2 | MCF-7 | breast: | |
| 2 | chr14:69080038..69083035-chr14:69093013..69095966,2 | MCF-7 | breast: | |
| 3 | chr14:69073812..69075425-chr14:69080872..69083380,2 | MCF-7 | breast: | |
| 4 | chr14:69078810..69080489-chr14:69081085..69082611,2 | MCF-7 | breast: | |
| 5 | chr14:69076773..69079330-chr14:69081666..69084664,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000259038 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs35389016 | chr14:69082389-69082390 | Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs568427056 | chr14:69082394-69082395 | Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs534981640 | chr14:69082415-69082416 | Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs529271723 | chr14:69082510-69082511 | Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs112857989 | chr14:69082546-69082547 | Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs61224239 | chr14:69082625-69082626 | Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs533694610 | chr14:69082627-69082628 | Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs568519730 | chr14:69082666-69082667 | Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs140172212 | chr14:69082745-69082746 | Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| 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 |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:69079200-69085400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr14:69079400-69083200 | Weak transcription | Fetal Heart | heart |
| 3 | chr14:69080400-69084600 | ZNF genes & repeats | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 4 | chr14:69081600-69082400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 5 | chr14:69081800-69084800 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 6 | chr14:69082400-69085800 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
