Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1030460	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10734698	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10734699	0.82[AMR][1000 genomes]
rs10770619	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1160229	0.94[EUR][1000 genomes]
rs11610286	0.95[ASN][1000 genomes]
rs11610290	0.95[ASN][1000 genomes]
rs11831329	0.97[ASN][1000 genomes]
rs12815060	0.95[ASN][1000 genomes]
rs1427995	0.87[AMR][1000 genomes]
rs35148005	0.95[ASN][1000 genomes]
rs4762934	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762935	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56317263	0.95[ASN][1000 genomes]
rs6487065	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7297897	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7308275	0.85[EUR][1000 genomes]
rs7312491	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs763488	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7970503	0.90[AMR][1000 genomes];0.96[EUR][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	nsv898855	chr12:20278430-20354786	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035141	chr12:20286595-20429040	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv898856	chr12:20317201-20354786	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
4	nsv557700	chr12:20346383-20379710	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv527363	chr12:20354786-20355013	Strong transcription Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7979819	AEBP2	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20354200-20355000	Enhancers	Adipose Nuclei	Adipose
2	chr12:20354200-20355200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:20354200-20356000	Strong transcription	Aorta	Aorta
4	chr12:20354600-20355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:20354600-20355800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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