Variant report
| Variant | rs12250724 |
|---|---|
| Chromosome Location | chr10:45549045-45549046 |
| allele | G/T |
| 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 | chr10:45547265..45549115-chr10:45552966..45555091,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs11239300 | 1.00[EUR][1000 genomes] |
| rs11815349 | 1.00[EUR][1000 genomes] |
| rs11816338 | 1.00[EUR][1000 genomes] |
| rs12249378 | 1.00[EUR][1000 genomes] |
| rs12251910 | 1.00[EUR][1000 genomes] |
| rs56413731 | 1.00[EUR][1000 genomes] |
| rs57792208 | 1.00[EUR][1000 genomes] |
| rs7085359 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7095998 | 1.00[EUR][1000 genomes] |
| rs73275092 | 1.00[EUR][1000 genomes] |
| rs73287594 | 1.00[EUR][1000 genomes] |
| rs74128124 | 1.00[EUR][1000 genomes] |
| rs74131512 | 1.00[EUR][1000 genomes] |
| rs74131513 | 1.00[EUR][1000 genomes] |
| rs74131518 | 1.00[EUR][1000 genomes] |
| rs74131519 | 1.00[EUR][1000 genomes] |
| rs7898705 | 1.00[EUR][1000 genomes] |
| rs7899617 | 1.00[EUR][1000 genomes] |
| rs7900196 | 1.00[EUR][1000 genomes] |
| rs7903078 | 1.00[EUR][1000 genomes] |
| rs7903359 | 1.00[EUR][1000 genomes] |
| rs7924266 | 1.00[EUR][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 | nsv831846 | chr10:45322236-45556370 | Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 2 | nsv831848 | chr10:45490176-45667670 | Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv971917 | chr10:45547355-45595482 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:45549000-45549200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
