Variant report
| Variant | esv3451695 |
|---|---|
| Chromosome Location | chr10:5248558-5248836 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
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| Variant related genes | Relation type |
|---|---|
| ENSG00000228291 | TF binding region |
| AKR1CL1 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:11 , 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 | rs528717087 | chr10:5248580-5248581 | Enhancers Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs112255048 | chr10:5248583-5248584 | Enhancers Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs1334475 | chr10:5248587-5248588 | Enhancers Strong transcription Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs562270350 | chr10:5248588-5248589 | Enhancers Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs138191057 | chr10:5248608-5248609 | Enhancers Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs372354704 | chr10:5248657-5248658 | Enhancers Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs12264733 | chr10:5248727-5248728 | Enhancers Strong transcription Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs188454872 | chr10:5248731-5248732 | Enhancers Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs568381913 | chr10:5248795-5248796 | Enhancers Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs137963536 | chr10:5248829-5248830 | Enhancers Strong transcription Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 11 | rs80218056 | chr10:5248831-5248832 | Enhancers Strong transcription Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Sudden cardiac death | 19188705 | CNVD |
| Digeorge syndrome | 22283845 | CNVD |
| Cancer | 21129771 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Wilms tumour | 19047088 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21183584 | CNVD |
| Barakat syndrome | 22470819 | CNVD |
| Melanoma | 18172304 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Autism | 18414403 | CNVD |
| Malignant melanoma | 18718029 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Melanoma | 17363583 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Breast cancer | 21785460 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:5239800-5251800 | Weak transcription | Stomach Mucosa | stomach |
| 2 | chr10:5240800-5253000 | Weak transcription | A549 | lung |
| 3 | chr10:5245000-5252200 | Strong transcription | Liver | Liver |
| 4 | chr10:5248400-5249200 | Enhancers | Primary hematopoietic stem cells | blood |
| 5 | chr10:5248800-5249600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 6 | chr10:5248800-5249800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
