Variant report
Variant | rs12118867 |
---|---|
Chromosome Location | chr1:80179133-80179134 |
allele | A/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 |
rs_ID | r2[population] |
---|---|
rs10493651 | 0.81[AMR][1000 genomes] |
rs11162786 | 0.83[EUR][1000 genomes] |
rs12076080 | 0.82[EUR][1000 genomes] |
rs12122884 | 0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12133798 | 0.83[EUR][1000 genomes] |
rs12144677 | 0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12144807 | 0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12405444 | 0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12724652 | 0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs12726232 | 0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12732588 | 0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12737717 | 0.85[EUR][1000 genomes] |
rs12744172 | 0.86[ASN][1000 genomes] |
rs12752633 | 0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs12759746 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1524180 | 0.83[ASN][1000 genomes] |
rs1524181 | 0.88[ASN][1000 genomes] |
rs4650425 | 0.81[AMR][1000 genomes] |
rs4650426 | 0.81[AMR][1000 genomes] |
rs4650431 | 0.88[ASN][1000 genomes] |
rs5010880 | 0.81[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1012296 | chr1:79945395-80300216 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
2 | nsv1012286 | chr1:80057078-81005153 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
3 | nsv535018 | chr1:80057078-81005153 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
4 | nsv1000792 | chr1:80076146-81015283 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
5 | nsv546638 | chr1:80131994-80353796 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
6 | esv3422555 | chr1:80159643-80191185 | Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:80166600-80182200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr1:80177400-80182000 | Weak transcription | Muscle Satellite Cultured Cells | -- |