Variant report
| Variant | rs58366817 |
|---|---|
| Chromosome Location | chr12:47934532-47934533 |
| 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:21)
| rs_ID | r2[population] |
|---|---|
| rs61918078 | 1.00[ASN][1000 genomes] |
| rs61918087 | 0.81[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61918088 | 1.00[ASN][1000 genomes] |
| rs61918089 | 0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61918091 | 0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61918092 | 0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61918093 | 0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61918094 | 0.87[EUR][1000 genomes] |
| rs61918095 | 0.87[EUR][1000 genomes] |
| rs61918096 | 0.87[EUR][1000 genomes] |
| rs61918128 | 0.84[EUR][1000 genomes] |
| rs61918130 | 0.81[EUR][1000 genomes] |
| rs7300502 | 0.96[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs7300647 | 1.00[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs7300656 | 1.00[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs73107470 | 1.00[ASN][1000 genomes] |
| rs73107481 | 0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73109412 | 0.87[EUR][1000 genomes] |
| rs7315127 | 0.96[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs74084573 | 0.88[AFR][1000 genomes] |
| rs7965280 | 0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv558785 | chr12:47740440-48044011 | Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv832400 | chr12:47840248-48024605 | Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv430507 | chr12:47883933-48079507 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv1051131 | chr12:47883981-48016556 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:47932200-47944800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 2 | chr12:47934400-47934600 | ZNF genes & repeats | Aorta | Aorta |
