Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27444592..27446953-chr7:27450325..27451883,2	K562	blood:
2	7:27238414-27242313..7:27439194-27449722	K562	blood:

Variant related genes	Relation type
ENSG00000243766	Chromatin interaction
ENSG00000106031	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11563953	0.89[ASW][hapmap];0.93[CEU][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11769034	0.85[AFR][1000 genomes]
rs11981704	1.00[CHD][hapmap]
rs11981761	1.00[ASW][hapmap];1.00[CHD][hapmap]
rs12700804	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12700806	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1541359	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1554637	0.91[EUR][1000 genomes]
rs17429761	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17438465	1.00[CHD][hapmap]
rs2391415	1.00[CHD][hapmap]
rs34924985	0.94[EUR][1000 genomes]
rs34989520	0.94[EUR][1000 genomes]
rs35240477	0.94[EUR][1000 genomes]
rs35468459	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35713538	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3915087	0.93[EUR][1000 genomes]
rs3915088	0.93[EUR][1000 genomes]
rs4722704	0.93[EUR][1000 genomes]
rs6953618	1.00[CHD][hapmap]
rs6958811	0.91[EUR][1000 genomes]
rs6970308	0.93[EUR][1000 genomes]
rs6979081	0.94[EUR][1000 genomes]
rs71539516	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs969410	0.94[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	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv366786	chr7:27445675-27448683	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7784592	C3orf62	trans	parietal	SCAN
rs7784592	STK31	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27444800-27458000	Weak transcription	Pancreas	Pancrea
2	chr7:27444800-27458000	Weak transcription	Stomach Mucosa	stomach

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