Variant report
| Variant | rs11172548 |
|---|---|
| Chromosome Location | chr12:58747690-58747691 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:58747318..58749017-chr12:58808479..58811470,2 | MCF-7 | breast: | |
| 2 | chr12:58747391..58749257-chr12:58750892..58753710,2 | K562 | blood: | |
| 3 | chr12:58746425..58748704-chr3:13576303..13578892,2 | MCF-7 | breast: | |
| 4 | chr12:58745108..58747905-chr12:58817447..58819128,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10506388 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs10506389 | 0.92[ASN][1000 genomes] |
| rs10877102 | 0.89[ASN][1000 genomes] |
| rs10877103 | 0.80[AMR][1000 genomes];0.89[ASN][1000 genomes] |
| rs10877104 | 0.92[ASN][1000 genomes] |
| rs11172544 | 0.81[ASN][1000 genomes] |
| rs11172546 | 0.80[AMR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11172547 | 0.80[AMR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11832860 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs17504503 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs17582660 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs3847701 | 0.81[ASN][1000 genomes] |
| rs57782897 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs61922270 | 0.92[ASN][1000 genomes] |
| rs61922271 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs61922272 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs718702 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9805094 | 0.82[AMR][1000 genomes];0.96[ASN][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 | nsv899124 | chr12:58391839-58883507 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 2 | nsv730 | chr12:58698792-58759096 | Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv510602 | chr12:58722449-58770942 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:58736800-58751800 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
