Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67852630..67855318-chr2:67906179..67908434,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10171129	0.91[YRI][hapmap]
rs10191839	0.91[YRI][hapmap]
rs10194664	0.94[YRI][hapmap]
rs10195055	0.91[YRI][hapmap]
rs10195947	0.91[YRI][hapmap]
rs10196069	0.95[YRI][hapmap]
rs10210853	0.91[YRI][hapmap]
rs11126146	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11675008	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11682751	0.91[YRI][hapmap]
rs11688644	0.91[YRI][hapmap]
rs11692071	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1367461	0.91[YRI][hapmap]
rs1367462	0.81[EUR][1000 genomes]
rs1430780	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1991637	0.82[EUR][1000 genomes]
rs2861713	0.82[EUR][1000 genomes]
rs4671836	0.82[AMR][1000 genomes]
rs7560271	0.82[EUR][1000 genomes]
rs9309403	0.91[YRI][hapmap]

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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv834250	chr2:67897722-68051532	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13418956	APLF	cis	parietal	SCAN
rs13418956	APLF	cis	cerebellum	SCAN
rs13418956	ACTR2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67903600-67912200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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