Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94450270..94451991-chr10:94480524..94483192,2	K562	blood:

Variant related genes	Relation type
ENSG00000152804	Chromatin interaction

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

rs_ID	r²[population]
rs11187109	0.85[CEU][hapmap]
rs11187111	0.85[CEU][hapmap]
rs11187112	0.85[CEU][hapmap]
rs11187126	0.85[CEU][hapmap]
rs11187142	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187150	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12247024	0.85[CEU][hapmap]
rs12256435	0.85[CEU][hapmap]
rs12260097	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262390	0.85[CEU][hapmap]
rs2488074	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488076	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488080	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488081	1.00[ASN][1000 genomes]
rs2497303	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497307	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2497308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497309	0.99[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2497312	0.84[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2497313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086841	0.98[EUR][1000 genomes];1.00[ASN][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	esv3446249	chr10:94374508-94549394	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2497311	HHEX	cis	cerebellum	SCAN
rs2497311	TNKS2	cis	parietal	SCAN
rs2497311	ZNF518A	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94477000-94486600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:94477200-94482600	Weak transcription	Pancreas	Pancrea
3	chr10:94480800-94486800	Weak transcription	K562	blood
4	chr10:94481200-94488200	Weak transcription	Primary B cells from peripheral blood	blood

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