Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168863923..168866260-chr1:168880539..168883068,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12239491	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12405834	1.00[EUR][1000 genomes]
rs12405968	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12407010	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12407753	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12410966	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1322500	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13375532	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16861687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59682281	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61567478	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123028	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74123029	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74123030	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74123031	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74123035	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7514914	0.84[ASN][1000 genomes]
rs7525887	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547710	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7548313	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7548404	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs857646	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:168861800-168865200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:168862400-168877000	Weak transcription	Fetal Heart	heart
3	chr1:168863200-168867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:168863200-168867800	Weak transcription	NHEK	skin
5	chr1:168863200-168868000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:168863200-168868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:168865000-168865200	Enhancers	Fetal Stomach	stomach

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