Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:180300727..180302237-chr3:180319771..180322478,2	MCF-7	breast:
2	chr3:180300754..180302265-chr3:180303769..180306723,2	K562	blood:

Variant related genes	Relation type
ENSG00000163728	Chromatin interaction

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

rs_ID	r²[population]
rs13327745	0.90[AFR][1000 genomes]
rs1520606	0.83[AMR][1000 genomes]
rs2338578	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28595523	0.87[ASW][hapmap];0.85[CEU][hapmap];0.97[GIH][hapmap];0.85[LWK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs3860513	1.00[CHD][hapmap]
rs4490359	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4615077	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62291003	0.80[AMR][1000 genomes]
rs6443696	0.87[ASW][hapmap];0.85[CEU][hapmap];0.91[GIH][hapmap];0.85[LWK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap]
rs6769457	1.00[CHD][hapmap]
rs6771979	0.83[AMR][1000 genomes]
rs6791597	0.88[GIH][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7611683	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7613520	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7624210	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7627008	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7627857	1.00[CHD][hapmap]
rs7633440	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7637098	0.85[AFR][1000 genomes]
rs7645817	0.88[GIH][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7647210	0.88[GIH][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs904241	0.90[AFR][1000 genomes]
rs9857056	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9865427	0.84[AFR][1000 genomes];0.87[AMR][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	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
2	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
3	esv3359190	chr3:180298396-180397223	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6443700	EIF2B5	cis	cerebellum	SCAN
rs6443700	TTC14	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180297200-180312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:180298000-180309800	Weak transcription	Brain Anterior Caudate	brain

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