Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113340678..113342396-chr2:113662998..113664820,2	K562	blood:

Variant related genes	Relation type
ENSG00000125611	Chromatin interaction

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

rs_ID	r²[population]
rs10199311	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11687403	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12468164	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12711745	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12987491	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12990810	0.92[ASN][1000 genomes]
rs13032029	0.82[JPT][hapmap]
rs2466452	0.82[JPT][hapmap]
rs2708919	0.92[ASN][1000 genomes]
rs2708932	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2723149	0.92[ASN][1000 genomes]
rs2723151	0.92[ASN][1000 genomes]
rs2723163	0.84[CEU][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2723197	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3811042	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4447608	0.82[JPT][hapmap]
rs4538207	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4848306	0.82[JPT][hapmap]
rs4849132	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7557537	0.90[AMR][1000 genomes];0.83[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	nsv961338	chr2:113657963-113691422	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113663400-113665000	Enhancers	HMEC	breast
2	chr2:113663600-113664800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:113663600-113665600	Weak transcription	Fetal Heart	heart
4	chr2:113663800-113664800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:113664000-113664600	Enhancers	NHEK	skin
6	chr2:113664200-113664600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:113664400-113665200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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