Variant report
Variant | rs57292411 |
---|---|
Chromosome Location | chr12:66918213-66918214 |
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 |
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No data |
rs_ID | r2[population] |
---|---|
rs11833142 | 0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11837040 | 0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs11837641 | 0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11838180 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12099994 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12828891 | 0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs17102580 | 0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs17102660 | 0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs17181176 | 0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs1873930 | 0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs34333715 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35145721 | 0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs35684389 | 0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs35728822 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35903867 | 0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35912619 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4144464 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6581699 | 0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs66522623 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs66723144 | 0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs7487348 | 0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs7956611 | 0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs7964834 | 0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1052503 | chr12:66293898-67269495 | Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 51 gene(s) | inside rSNPs | diseases |
2 | nsv541515 | chr12:66293898-67269495 | Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 51 gene(s) | inside rSNPs | diseases |
3 | nsv1040682 | chr12:66750103-67328053 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
4 | nsv832447 | chr12:66785814-66990029 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
5 | nsv469459 | chr12:66854354-66950289 | Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
6 | nsv559206 | chr12:66854354-66950289 | Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
7 | nsv832449 | chr12:66885819-67069953 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
8 | esv2757508 | chr12:66905405-66980180 | Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
9 | esv2759906 | chr12:66905405-66980180 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:66910200-66932800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr12:66911400-66938200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |