Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:180231398..180234101-chr3:180263893..180266874,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1520606	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2133007	0.81[EUR][1000 genomes]
rs2338578	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28595523	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs3860513	1.00[CHD][hapmap]
rs4615077	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56406114	0.83[EUR][1000 genomes]
rs62291003	0.80[AMR][1000 genomes]
rs6443696	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs6443700	0.87[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6769457	1.00[CHD][hapmap]
rs6771979	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6791597	0.91[GIH][hapmap];0.83[YRI][hapmap]
rs7611683	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7613520	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7624210	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7625418	0.83[EUR][1000 genomes]
rs7627008	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7627857	1.00[CHD][hapmap]
rs7633440	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7643043	0.88[EUR][1000 genomes]
rs7645817	0.91[GIH][hapmap];0.82[YRI][hapmap]
rs7647210	0.91[GIH][hapmap];0.83[YRI][hapmap]
rs9857056	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9865427	0.87[AMR][1000 genomes];0.99[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	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1007831	chr3:180162003-180348203	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536818	chr3:180162003-180348203	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4490359	TTC14	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180221000-180235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:180229200-180234600	Weak transcription	Pancreas	Pancrea

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