Variant report
| Variant | rs56158317 |
|---|---|
| Chromosome Location | chr12:60701430-60701431 |
| allele | C/T |
| 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 |
rSNPs within LD-proxies of this variant (count:31)
| rs_ID | r2[population] |
|---|---|
| rs11173369 | 0.81[AFR][1000 genomes] |
| rs11829107 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11830027 | 0.92[ASN][1000 genomes] |
| rs11831127 | 0.85[AFR][1000 genomes] |
| rs11831587 | 1.00[AFR][1000 genomes] |
| rs11832232 | 0.80[AFR][1000 genomes] |
| rs11832299 | 0.81[AFR][1000 genomes] |
| rs11835954 | 0.81[AFR][1000 genomes] |
| rs12579713 | 0.90[AFR][1000 genomes] |
| rs12581293 | 0.81[AFR][1000 genomes] |
| rs12582010 | 0.81[AFR][1000 genomes] |
| rs55905809 | 0.90[AFR][1000 genomes] |
| rs56178609 | 1.00[AFR][1000 genomes] |
| rs57533761 | 0.90[AFR][1000 genomes] |
| rs57848253 | 0.90[AFR][1000 genomes] |
| rs59757360 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61561862 | 0.95[AFR][1000 genomes] |
| rs7139265 | 0.95[AFR][1000 genomes] |
| rs7310477 | 0.90[AFR][1000 genomes] |
| rs73113496 | 0.81[AFR][1000 genomes] |
| rs73114735 | 0.81[AFR][1000 genomes] |
| rs73114791 | 0.90[AFR][1000 genomes] |
| rs73115184 | 0.81[AFR][1000 genomes] |
| rs73120658 | 1.00[AFR][1000 genomes] |
| rs7314006 | 0.95[AFR][1000 genomes] |
| rs74093450 | 0.80[AFR][1000 genomes] |
| rs74093457 | 0.80[AFR][1000 genomes] |
| rs74093706 | 0.80[AFR][1000 genomes] |
| rs74094350 | 0.80[AFR][1000 genomes] |
| rs7960722 | 0.81[AFR][1000 genomes] |
| rs867948 | 0.90[AFR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv899137 | chr12:60568891-60797083 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv1054287 | chr12:60601870-60861866 | Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv832431 | chr12:60626292-60809233 | Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:60701200-60704000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr12:60701200-60705000 | Enhancers | HMEC | breast |
| 3 | chr12:60701200-60706200 | Enhancers | NHEK | skin |
