Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166660337..166665266-chr1:166666489..166671728,7	K562	blood:
2	chr1:166660337..166665762-chr1:166666716..166670827,7	K562	blood:

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

rs_ID	r²[population]
rs10737530	1.00[CHD][hapmap]
rs1561844	1.00[CHD][hapmap]
rs34900988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs489144	1.00[CHD][hapmap]
rs494467	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs502594	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs503909	1.00[CHD][hapmap]
rs503961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs506349	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs511860	1.00[CHD][hapmap]
rs517224	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs523900	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs540253	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs554914	1.00[CHD][hapmap]
rs562914	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs565064	1.00[CHD][hapmap]
rs565418	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs579671	1.00[ASW][hapmap];1.00[CHD][hapmap]
rs858818	0.81[CEU][hapmap]
rs9726160	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2752389	chr1:166625342-166706342	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv947550	chr1:166647096-166673303	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs543249	C14orf64	trans	lymphoblastoid	RTeQTL
rs543249	FCGR2A	cis	parietal	SCAN
rs543249	PPOX	cis	parietal	SCAN
rs543249	ALDH9A1	cis	parietal	SCAN
rs543249	RGS4	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166667600-166669600	Enhancers	K562	blood
2	chr1:166668800-166672200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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