Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47901266..47903549-chr1:47980429..47982950,2	K562	blood:

Variant related genes	Relation type
ENSG00000186564	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1024108	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11585530	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11799997	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1415540	0.81[ASW][hapmap];0.91[YRI][hapmap]
rs17103342	0.93[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17103383	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2102437	0.93[EUR][1000 genomes]
rs28493519	0.84[EUR][1000 genomes]
rs471608	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs478526	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs560540	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404532	0.93[EUR][1000 genomes]
rs578335	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59326446	0.93[EUR][1000 genomes]
rs59865928	0.94[EUR][1000 genomes]
rs60503680	0.94[EUR][1000 genomes]
rs635710	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6681140	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6688849	0.94[EUR][1000 genomes]
rs72904553	0.86[EUR][1000 genomes]
rs72904554	0.86[EUR][1000 genomes]
rs7531586	0.93[EUR][1000 genomes]
rs7543243	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs822886	CDKN2C	cis	parietal	SCAN
rs822886	MAST2	cis	cerebellum	SCAN
rs822886	IPP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47976000-47989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47980800-47981800	Enhancers	K562	blood
3	chr1:47981000-47981800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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