Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:54174187..54175829-chr3:54181314..54184200,2	K562	blood:

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

rs_ID	r²[population]
rs11719463	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs11719497	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs1530734	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs28483429	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4077945	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs4440155	0.84[EUR][1000 genomes]
rs4927999	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs4928000	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs4928002	0.84[EUR][1000 genomes]
rs4928005	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6445629	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs6764560	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs6797113	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs6799361	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs6803515	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs7653627	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs881700	0.89[CEU][hapmap]
rs9311526	0.84[ASN][1000 genomes]
rs9809321	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs9846298	0.83[EUR][1000 genomes]
rs9883488	0.89[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1014157	chr3:54168755-54332321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54180200-54183800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr3:54181000-54195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:54181600-54192000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:54183200-54183800	Enhancers	Left Ventricle	heart
5	chr3:54183200-54183800	Enhancers	Right Atrium	heart
6	chr3:54183200-54183800	Enhancers	Spleen	Spleen
7	chr3:54183400-54183800	Enhancers	Psoas Muscle	Psoas
8	chr3:54183400-54183800	Enhancers	Skeletal Muscle Male	skeletal muscle

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