Variant report
| Variant | esv3434807 |
|---|---|
| Chromosome Location | chr10:1543745-1544101 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr10:1539157..1540737-chr10:1542301..1544094,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:14 , 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 | rs144248420 | chr10:1543747-1543748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs34742389 | chr10:1543766-1543767 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs2063940 | chr10:1543839-1543840 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs61831917 | chr10:1543852-1543853 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs35934800 | chr10:1543887-1543888 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs60457795 | chr10:1543897-1543898 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs61831918 | chr10:1543940-1543941 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs548837605 | chr10:1543944-1543945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs188323405 | chr10:1543963-1543964 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs529254500 | chr10:1543971-1543972 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs548938127 | chr10:1543979-1543980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs565853149 | chr10:1543996-1543997 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs572918181 | chr10:1544002-1544003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs528596358 | chr10:1544031-1544032 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:1543400-1544000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr10:1543600-1544000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr10:1543800-1545800 | Enhancers | Fetal Intestine Large | intestine |
| 4 | chr10:1544000-1545800 | Enhancers | Fetal Intestine Small | intestine |
