Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76492764..76495132-chr1:76495850..76497868,2	K562	blood:

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

rs_ID	r²[population]
rs11579206	0.80[AMR][1000 genomes]
rs12405897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12408790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12411016	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251478	0.93[AFR][1000 genomes]
rs1251479	0.93[AFR][1000 genomes]
rs1251481	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1251482	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251500	0.93[AFR][1000 genomes]
rs1251514	1.00[AFR][1000 genomes]
rs1251515	1.00[AFR][1000 genomes]
rs1251517	0.87[AFR][1000 genomes]
rs1251520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251522	0.87[AMR][1000 genomes]
rs1658741	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17657999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770894	1.00[AFR][1000 genomes]
rs1770896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1892480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2004130	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4949620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4949689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72988522	1.00[EUR][1000 genomes]
rs946160	0.93[AFR][1000 genomes]
rs946161	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2754129	chr1:76489579-76529279	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76489800-76502800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:76492600-76503400	Weak transcription	Fetal Lung	lung
3	chr1:76497400-76499000	Enhancers	Primary T cells from cord blood	blood

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