Variant report
Variant | rs4762785 |
---|---|
Chromosome Location | chr12:20945273-20945274 |
allele | G/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 |
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No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10505869 | 0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10841614 | 0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10841617 | 0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10841619 | 0.81[AMR][1000 genomes] |
rs10841642 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10841644 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10841645 | 0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs10841648 | 0.92[AFR][1000 genomes];0.97[EUR][1000 genomes] |
rs11045455 | 0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs11045458 | 0.84[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs11045459 | 0.85[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs11045460 | 0.87[EUR][1000 genomes] |
rs11045477 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs11045500 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11045505 | 0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs11525531 | 0.89[EUR][1000 genomes] |
rs12313384 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12823467 | 0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1588918 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs1588919 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1588920 | 0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1829008 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2090272 | 0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2090274 | 0.86[EUR][1000 genomes] |
rs2090275 | 0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2090276 | 0.87[EUR][1000 genomes] |
rs2102737 | 0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2417859 | 0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2900456 | 0.80[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs35811140 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs4141475 | 0.99[EUR][1000 genomes] |
rs4379890 | 0.83[AMR][1000 genomes] |
rs4762776 | 0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4762779 | 0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs4762780 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs4762781 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs4762786 | 0.82[AFR][1000 genomes];0.99[EUR][1000 genomes] |
rs6487140 | 0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7294687 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7295794 | 0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7297868 | 0.83[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs7299977 | 0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7300887 | 0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7309696 | 0.92[AFR][1000 genomes];0.99[EUR][1000 genomes] |
rs7311295 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs7315732 | 0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs7964850 | 0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7965380 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7968058 | 0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7980075 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1043890 | chr12:20659151-21309993 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
2 | nsv541410 | chr12:20659151-21309993 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
3 | nsv1054997 | chr12:20682009-21292602 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
4 | esv17347 | chr12:20892854-21029179 | Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
5 | nsv1051454 | chr12:20893994-20999635 | Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
6 | nsv1040033 | chr12:20914439-21078855 | Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
7 | nsv869995 | chr12:20929531-21081863 | ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
8 | esv2758297 | chr12:20942215-21117820 | Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
9 | esv2759882 | chr12:20942215-21117820 | Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
10 | nsv427905 | chr12:20942215-21117820 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
11 | nsv428275 | chr12:20942215-21117820 | Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:20942600-20961200 | Weak transcription | A549 | lung |