Variant report
Variant | rs12047468 |
---|---|
Chromosome Location | chr1:227597369-227597370 |
allele | G/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:227596112..227598714-chr1:227598810..227600667,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000232864 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10916132 | 0.86[EUR][1000 genomes] |
rs10916134 | 1.00[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes] |
rs10916142 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.81[YRI][hapmap];0.91[ASN][1000 genomes] |
rs12028062 | 0.91[ASW][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap] |
rs12030548 | 0.86[EUR][1000 genomes] |
rs3014268 | 0.93[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap] |
rs72761380 | 0.86[EUR][1000 genomes] |
rs72761392 | 0.92[EUR][1000 genomes] |
rs7529685 | 0.89[EUR][1000 genomes] |
rs7546896 | 0.92[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv534002 | chr1:227315186-228047108 | Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 54 gene(s) | inside rSNPs | diseases |
2 | nsv1001353 | chr1:227474785-227660691 | Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
3 | nsv1003278 | chr1:227563126-227678464 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
4 | nsv873243 | chr1:227581017-227617519 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |