Variant report
Variant | rs7976324 |
---|---|
Chromosome Location | chr12:48946796-48946797 |
allele | A/G |
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 |
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No data |
rs_ID | r2[population] |
---|---|
rs10875827 | 0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10875829 | 0.88[EUR][1000 genomes] |
rs10875833 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11168599 | 0.82[EUR][1000 genomes] |
rs11168618 | 0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs11168619 | 0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs11168637 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11458 | 0.85[EUR][1000 genomes] |
rs12371700 | 0.88[EUR][1000 genomes] |
rs12815544 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2114322 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4359253 | 0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs7302209 | 0.88[EUR][1000 genomes] |
rs7972785 | 0.81[EUR][1000 genomes] |
rs7974213 | 0.82[EUR][1000 genomes] |
rs7980421 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv427911 | chr12:48670336-48979396 | Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
2 | nsv1047600 | chr12:48927514-48954225 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
3 | nsv1048307 | chr12:48927514-48958949 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:48946000-48947400 | Weak transcription | Esophagus | oesophagus |