Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46236040..46239138-chr11:46247934..46250097,3	MCF-7	breast:
2	chr11:46141256..46143390-chr11:46248158..46251074,3	K562	blood:

Variant related genes	Relation type
ENSG00000135365	Chromatin interaction
ENSG00000255269	Chromatin interaction

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

rs_ID	r²[population]
rs1024004	1.00[ASN][1000 genomes]
rs10734541	1.00[ASN][1000 genomes]
rs10769193	1.00[ASN][1000 genomes]
rs10769198	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10838571	1.00[ASN][1000 genomes]
rs2029482	1.00[ASN][1000 genomes]
rs2029483	1.00[ASN][1000 genomes]
rs2863725	1.00[ASN][1000 genomes]
rs2902551	1.00[ASN][1000 genomes]
rs4387328	1.00[ASN][1000 genomes]
rs4756064	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884129	1.00[ASN][1000 genomes]
rs61884130	0.89[EUR][1000 genomes]
rs6485666	1.00[ASN][1000 genomes]
rs6485670	1.00[CEU][hapmap]
rs7117279	1.00[CEU][hapmap]
rs7121210	1.00[ASN][1000 genomes]
rs7128233	0.81[EUR][1000 genomes]
rs7925296	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925932	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923531	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][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	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9734613	NR1H3	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46249600-46250600	Enhancers	K562	blood

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