Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215094543..215096510-chr1:215106179..215108957,2	K562	blood:
2	chr1:215038350..215040423-chr1:215095466..215098251,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11120451	1.00[AFR][1000 genomes]
rs12129514	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12135089	1.00[AFR][1000 genomes]
rs12139509	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12750128	0.80[ASN][1000 genomes]
rs1336948	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1415182	1.00[AFR][1000 genomes]
rs17023635	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17023662	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17023721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17023742	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17023828	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1856049	1.00[AFR][1000 genomes]
rs1892080	1.00[AFR][1000 genomes]
rs1993180	0.84[ASN][1000 genomes]
rs2184837	1.00[AFR][1000 genomes]
rs2859911	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs60630707	0.94[ASN][1000 genomes]
rs72743815	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72761511	1.00[AFR][1000 genomes]
rs72761513	1.00[AFR][1000 genomes]
rs72761518	1.00[AFR][1000 genomes]
rs72761520	1.00[AFR][1000 genomes]
rs72761521	1.00[AFR][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	nsv873167	chr1:214950361-215116947	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215085800-215097800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:215092800-215096400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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