Variant report
| Variant | esv3362331 |
|---|---|
| Chromosome Location | chr10:1251214-1251394 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr10:1251200-1251249 | GM12878 | blood: | n/a | n/a |
| 2 | ZNF263 | chr10:1251393-1251770 | HEK293-T-REx | kidney: | n/a | n/a |
| No data |
(count:3 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ADARB2 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs10903406 | chr10:1251215-1251216 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs548199511 | chr10:1251232-1251233 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs7074461 | chr10:1251258-1251259 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs139606114 | chr10:1251281-1251282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs563723127 | chr10:1251285-1251286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs144542046 | chr10:1251291-1251292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs112557989 | chr10:1251297-1251298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs558715814 | chr10:1251306-1251307 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs11813234 | chr10:1251321-1251322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs147656067 | chr10:1251322-1251323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs561443985 | chr10:1251336-1251337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs574341520 | chr10:1251358-1251359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113460996 | chr10:1251369-1251370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs112172135 | chr10:1251393-1251394 | 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 | chr10:1236000-1255200 | Weak transcription | Pancreas | Pancrea |
| 2 | chr10:1245600-1255200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 3 | chr10:1248200-1259200 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
| 4 | chr10:1248600-1255200 | Weak transcription | Brain Cingulate Gyrus | brain |
| 5 | chr10:1248800-1261800 | Weak transcription | Brain Hippocampus Middle | brain |
| 6 | chr10:1249400-1253400 | Weak transcription | Brain Substantia Nigra | brain |
| 7 | chr10:1249800-1265400 | Weak transcription | Brain Anterior Caudate | brain |
| 8 | chr10:1250800-1255200 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 9 | chr10:1251000-1251400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
