Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72892290..72896400-chr14:72897416..72900552,5	MCF-7	breast:

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

rs_ID	r²[population]
rs10131300	1.00[CHD][hapmap]
rs10151157	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155166	0.96[CEU][hapmap]
rs11628490	0.92[CEU][hapmap]
rs12433564	0.81[CEU][hapmap]
rs1860152	0.92[CEU][hapmap]
rs2238189	0.96[CEU][hapmap]
rs2332835	0.96[CEU][hapmap];1.00[CHD][hapmap]
rs4903015	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4903017	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4903020	0.92[CEU][hapmap]
rs7143134	0.92[CEU][hapmap]
rs7143154	0.96[CEU][hapmap]
rs7143912	0.96[CEU][hapmap]
rs7153455	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7155105	0.96[CEU][hapmap]
rs7158962	0.96[CEU][hapmap]
rs7159534	1.00[CHB][hapmap];0.97[GIH][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160019	1.00[CHB][hapmap]
rs719064	0.92[CEU][hapmap]
rs8012037	0.83[ASW][hapmap]
rs9989171	0.96[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8018108	C14orf162	cis	cerebellum	SCAN
rs8018108	VSX2	cis	parietal	SCAN
rs8018108	ZNF410	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72891000-72908600	Weak transcription	Left Ventricle	heart
2	chr14:72895400-72897800	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72895400-72901000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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