Variant report
| Variant | esv3414244 |
|---|---|
| Chromosome Location | chr10:1738383-1738558 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs3062722 | chr10:1738385-1738386 | Active TSS Weak transcription Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs77105628 | chr10:1738386-1738387 | Active TSS Weak transcription Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs113590055 | chr10:1738391-1738392 | Active TSS Weak transcription Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs578252094 | chr10:1738415-1738416 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs117373377 | chr10:1738419-1738420 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs1874991 | chr10:1738423-1738424 | Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs573557364 | chr10:1738442-1738443 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs144343942 | chr10:1738459-1738460 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs386739886 | chr10:1738461-1738462 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs371811801 | chr10:1738463-1738464 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs559012438 | chr10:1738464-1738465 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs55917003 | chr10:1738474-1738475 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs544814853 | chr10:1738479-1738480 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs1107762 | chr10:1738482-1738483 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs142192040 | chr10:1738493-1738494 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs112509909 | chr10:1738496-1738497 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs569984325 | chr10:1738509-1738510 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs151210093 | chr10:1738512-1738513 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs12265803 | chr10:1738526-1738527 | Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs140417196 | chr10:1738548-1738549 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs535077410 | chr10:1738554-1738555 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | 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 | chr10:1737800-1738400 | Bivalent/Poised TSS | Fetal Lung | lung |
| 2 | chr10:1738200-1738600 | Active TSS | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 3 | chr10:1738200-1739000 | Weak transcription | Pancreas | Pancrea |
| 4 | chr10:1738200-1740200 | Weak transcription | H9 Cell Line | embryonic stem cell |
