Variant report
Variant | rs12304013 |
---|---|
Chromosome Location | chr12:58037364-58037365 |
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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rs_ID | r2[population] |
---|---|
rs11172290 | 0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12318458 | 0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12320537 | 0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12322482 | 0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs2258877 | 0.81[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2277323 | 0.83[EUR][1000 genomes] |
rs2619468 | 0.81[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2619469 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2619470 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2640607 | 0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs34919374 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs35831868 | 0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs3899676 | 0.81[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs71432310 | 0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs715930 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs774896 | 0.81[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs774897 | 0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs774898 | 0.81[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs774899 | 0.81[EUR][1000 genomes];0.92[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1038741 | chr12:57877355-58174506 | Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 126 gene(s) | inside rSNPs | diseases |
2 | nsv541503 | chr12:57877355-58174506 | Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 126 gene(s) | inside rSNPs | diseases |
3 | nsv541504 | chr12:57958701-58062311 | Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
4 | esv1802058 | chr12:58028127-58062667 | Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 17 gene(s) | inside rSNPs | diseases |
5 | nsv559044 | chr12:58028671-58065448 | Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
6 | nsv975499 | chr12:58034418-58068937 | Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 6 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:58036600-58039800 | Weak transcription | K562 | blood |