Variant report

Variant	rs74076482
Chromosome Location	chr12:29232553-29232554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1498795	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17653960	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17704968	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1960925	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55951138	0.83[EUR][1000 genomes]
rs56014476	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56019958	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56078711	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56823591	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57629099	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58373348	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59190473	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60718845	0.83[EUR][1000 genomes]
rs61641706	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7295808	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7301103	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7310637	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7315447	0.82[EUR][1000 genomes]
rs74076209	0.83[EUR][1000 genomes]
rs74076219	0.85[EUR][1000 genomes]
rs74076226	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74076486	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74076737	0.88[EUR][1000 genomes]
rs74076740	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7957091	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7966315	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7978880	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3353156	chr12:29232317-29232646	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29226600-29233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:29228000-29233800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:29229600-29234000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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