Variant report
| Variant | esv3518442 |
|---|---|
| Chromosome Location | chr10:1581242-1582012 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr10:1575954..1577793-chr10:1581018..1583790,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs113430474 | chr10:1581299-1581300 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs576684926 | chr10:1581438-1581439 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs542507545 | chr10:1581445-1581446 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs544381549 | chr10:1581466-1581467 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs561689174 | chr10:1581610-1581611 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs572098722 | chr10:1581616-1581617 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs541012334 | chr10:1581660-1581661 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs564246543 | chr10:1581700-1581701 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs2138692 | chr10:1581728-1581729 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 10 | rs549799902 | chr10:1581760-1581761 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs74908791 | chr10:1581836-1581837 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs186759365 | chr10:1581851-1581852 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs548897083 | chr10:1581852-1581853 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs386739856 | chr10:1581875-1581876 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs2676177 | chr10:1581876-1581877 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs12262046 | chr10:1581903-1581904 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs193300580 | chr10:1581931-1581932 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs143059365 | chr10:1581939-1581940 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs4448618 | chr10:1581991-1581992 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Pilocytic astrocytoma | 18622384 | CNVD |
| Pilomyxoid astrocytoma | 18622384 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Cancer | 21129771 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Digeorge syndrome | 22283845 | 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 |
| 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 |
| Breast cancer | 21509527 | 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 |
| Autism | 22543975 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:1580400-1581800 | Enhancers | Fetal Thymus | thymus |
| 2 | chr10:1580800-1582400 | Enhancers | Brain Germinal Matrix | brain |
| 3 | chr10:1581000-1585400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 4 | chr10:1581200-1582400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 5 | chr10:1581200-1588400 | Weak transcription | Dnd41 | blood |
| 6 | chr10:1581600-1581800 | Enhancers | Pancreas | Pancrea |
| 7 | chr10:1581800-1582600 | Enhancers | GM12878-XiMat | blood |
