Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:59549975..59552166-chr3:59555008..59557289,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11710236	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1502616	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060864	1.00[ASN][1000 genomes]
rs17060872	1.00[ASN][1000 genomes]
rs17060880	1.00[ASN][1000 genomes]
rs17060881	1.00[ASN][1000 genomes]
rs17060901	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35769758	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56188040	1.00[ASN][1000 genomes]
rs57453654	1.00[ASN][1000 genomes]
rs62250726	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62250728	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768376	1.00[ASN][1000 genomes]
rs6798519	1.00[ASN][1000 genomes]
rs73084821	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73837332	1.00[ASN][1000 genomes]
rs73837338	1.00[ASN][1000 genomes]
rs73837342	1.00[ASN][1000 genomes]
rs73837345	1.00[ASN][1000 genomes]
rs73837346	1.00[ASN][1000 genomes]
rs73837349	1.00[ASN][1000 genomes]
rs73837350	1.00[ASN][1000 genomes]
rs73837352	1.00[ASN][1000 genomes]
rs73837356	1.00[ASN][1000 genomes]
rs9857745	1.00[ASN][1000 genomes]
rs9871074	1.00[ASN][1000 genomes]
rs9875227	1.00[ASN][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	nsv534257	chr3:58855959-59606464	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv876836	chr3:59500394-59664687	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv834706	chr3:59538151-59736014	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv998711	chr3:59542279-59704503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59547000-59555000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:59547200-59552200	Weak transcription	Fetal Kidney	kidney
3	chr3:59548600-59552200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:59548600-59554600	Enhancers	HMEC	breast
5	chr3:59549600-59554200	Enhancers	NHEK	skin
6	chr3:59550000-59553600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:59550200-59559800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:59550800-59554200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:59550800-59554400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:59550800-59554600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:59551000-59552000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:59551000-59552800	Enhancers	GM12878-XiMat	blood

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