Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67515801..67517539-chr12:67521669..67524496,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10506541	0.93[AFR][1000 genomes]
rs10878569	0.85[CEU][hapmap]
rs11176555	0.83[CEU][hapmap]
rs11611265	0.89[CEU][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs11614672	0.93[AFR][1000 genomes]
rs11833346	0.83[EUR][1000 genomes]
rs11833347	0.83[EUR][1000 genomes]
rs11835794	0.85[CEU][hapmap]
rs12231102	1.00[CEU][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs17103378	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17183558	0.84[CEU][hapmap]
rs17183565	0.84[CEU][hapmap]
rs17183669	0.92[CEU][hapmap]
rs17183676	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17183711	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17781148	0.93[AFR][1000 genomes]
rs17781196	0.92[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs74098199	0.93[AFR][1000 genomes]
rs74101218	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7961790	0.90[EUR][1000 genomes]
rs7962241	0.90[EUR][1000 genomes]

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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17781166	MON2	cis	cerebellum	SCAN
rs17781166	GRIP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67514800-67516200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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