Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:120084727..120087812-chr6:120089730..120091489,3	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10456925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457363	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10457364	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10457365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484866	0.81[AFR][1000 genomes]
rs11153846	0.81[AFR][1000 genomes]
rs11965378	0.85[AFR][1000 genomes]
rs12202174	0.96[AFR][1000 genomes]
rs12204573	0.81[AFR][1000 genomes]
rs12213166	0.81[AFR][1000 genomes]
rs13202412	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1884253	0.81[AFR][1000 genomes]
rs1986402	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914520	0.81[ASN][1000 genomes]
rs6919761	0.81[AFR][1000 genomes]
rs6927271	0.81[AFR][1000 genomes]
rs9285434	0.80[CHB][hapmap];0.85[CHD][hapmap]
rs9387674	0.81[AFR][1000 genomes]
rs9489782	0.81[ASN][1000 genomes]
rs991356	0.81[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	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1028580	chr6:120032073-120095538	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10872185	COL10A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120085800-120087400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:120086400-120086600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:120086400-120086800	Enhancers	HMEC	breast

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