Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:167906637..167909557-chr2:167924845..167927554,3	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10497314	0.93[CEU][hapmap]
rs10497315	0.93[CEU][hapmap];0.82[AMR][1000 genomes]
rs11694517	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11899748	0.81[AMR][1000 genomes]
rs12105903	1.00[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]
rs12619579	0.93[CEU][hapmap]
rs12692857	0.93[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs1346722	0.82[CEU][hapmap];0.94[MEX][hapmap];0.82[YRI][hapmap]
rs1346723	0.93[CEU][hapmap]
rs1429930	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61084716	0.85[AMR][1000 genomes]
rs6432975	0.81[AMR][1000 genomes]
rs6706173	0.81[AMR][1000 genomes]
rs6733384	1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap]
rs6742332	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7557440	0.93[CEU][hapmap]
rs7572454	0.82[AMR][1000 genomes]
rs7580360	0.93[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes]
rs7586785	0.93[CEU][hapmap]
rs7606905	0.85[AMR][1000 genomes]
rs7607028	0.86[CEU][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]
rs891384	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9967718	0.84[AMR][1000 genomes]
rs998899	0.94[MEX][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529384	chr2:167143465-167958752	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875376	chr2:167844513-168037489	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16852941	ANXA1	trans	brain	seeQTL
rs16852941	SNX19	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167925400-167927400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:167925800-167927400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:167925800-167928200	Enhancers	HMEC	breast
4	chr2:167926000-167928200	Enhancers	NHEK	skin
5	chr2:167927000-167928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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