Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:166655859..166658235-chr1:166660920..166662905,2	K562	blood:
2	chr1:166660337..166665762-chr1:166666716..166670827,7	K562	blood:
3	chr1:166660337..166665266-chr1:166666489..166671728,7	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10737530	1.00[CHD][hapmap]
rs1561844	1.00[CHD][hapmap]
rs34900988	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs489060	1.00[YRI][hapmap]
rs489144	1.00[CHD][hapmap]
rs502594	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs503909	1.00[CHD][hapmap]
rs503961	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs506349	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs523900	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs526625	1.00[YRI][hapmap]
rs540253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs543249	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs554914	1.00[CHD][hapmap]
rs562914	0.97[AMR][1000 genomes];0.97[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];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs579671	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[YRI][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs494467	PPOX	cis	parietal	SCAN
rs494467	RGS4	cis	parietal	SCAN
rs494467	FCGR2A	cis	parietal	SCAN
rs494467	ALDH9A1	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166660400-166665200	Enhancers	K562	blood
2	chr1:166660800-166662400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:166662000-166662400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:166662000-166662400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:166662000-166662600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:166662000-166663000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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