Variant report
Variant | rs73113308 |
---|---|
Chromosome Location | chr12:60217132-60217133 |
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 |
rs_ID | r2[population] |
---|---|
rs10783997 | 0.97[EUR][1000 genomes] |
rs10877332 | 0.84[AFR][1000 genomes];0.94[EUR][1000 genomes] |
rs10877333 | 0.98[EUR][1000 genomes] |
rs10877334 | 0.98[EUR][1000 genomes] |
rs10877348 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs11173121 | 0.84[AFR][1000 genomes];0.97[EUR][1000 genomes] |
rs11173138 | 0.84[AFR][1000 genomes];0.98[EUR][1000 genomes] |
rs11173183 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs11173186 | 0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs11611304 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11611808 | 0.84[AFR][1000 genomes];0.96[EUR][1000 genomes] |
rs12581981 | 0.84[AFR][1000 genomes];0.97[EUR][1000 genomes] |
rs17572569 | 0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs17573052 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17650140 | 0.84[AFR][1000 genomes];0.98[EUR][1000 genomes] |
rs4323908 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs55863604 | 0.84[AFR][1000 genomes];0.98[EUR][1000 genomes] |
rs55869967 | 0.84[AFR][1000 genomes];0.98[EUR][1000 genomes] |
rs56410712 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs7972065 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv869425 | chr12:59746898-60479741 | Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 22 gene(s) | inside rSNPs | diseases |
2 | esv3365928 | chr12:60042531-60343212 | Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
3 | nsv899134 | chr12:60141518-60263723 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
4 | nsv899135 | chr12:60156046-60228610 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
5 | nsv559102 | chr12:60164408-60221898 | Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:60217000-60217200 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
2 | chr12:60217000-60218200 | Enhancers | NHDF-Ad | bronchial |