Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:141499460..141502313-chr3:141511954..141514194,2	K562	blood:
2	chr3:141495028..141497068-chr3:141498663..141501950,4	K562	blood:
3	chr3:141497748..141499920-chr3:141499953..141502625,2	MCF-7	breast:
4	chr3:141501018..141501930-chr3:141593582..141595200,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction
ENSG00000114124	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10513157	0.87[LWK][hapmap];0.81[MKK][hapmap]
rs13317804	0.86[EUR][1000 genomes]
rs2030183	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2677433	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2677434	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2681696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234468	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs4327361	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4447734	0.94[CEU][hapmap]
rs4594596	0.86[EUR][1000 genomes]
rs4683625	0.86[EUR][1000 genomes]
rs6440037	0.84[EUR][1000 genomes]
rs6806847	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs72982427	0.84[AFR][1000 genomes]
rs7615804	0.84[EUR][1000 genomes]
rs7616846	0.89[CEU][hapmap];0.85[MEX][hapmap];0.81[EUR][1000 genomes]
rs7630190	0.83[EUR][1000 genomes]
rs9831276	0.94[CEU][hapmap];0.90[CHD][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9842184	0.81[ASN][1000 genomes]
rs9859089	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2681698	ACPL2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141497800-141505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:141501400-141502000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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