Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103250881..103252737-chr7:103255714..103258571,2	K562	blood:

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

rs_ID	r²[population]
rs10244159	0.85[ASN][1000 genomes]
rs10245257	0.83[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10247439	0.89[JPT][hapmap]
rs11983439	0.84[ASN][1000 genomes]
rs123712	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs123713	0.87[ASN][1000 genomes]
rs123714	0.83[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12667604	0.88[ASN][1000 genomes]
rs2058378	0.87[ASN][1000 genomes]
rs2058379	0.87[ASN][1000 genomes]
rs2109697	0.83[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2191702	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2249372	0.83[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2299345	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2535755	0.88[ASN][1000 genomes]
rs362642	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362658	0.85[ASN][1000 genomes]
rs362688	0.90[ASN][1000 genomes]
rs362695	0.83[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3757744	0.85[ASN][1000 genomes]
rs3808024	0.83[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3823981	0.89[ASN][1000 genomes]
rs722613	0.89[JPT][hapmap]
rs9656083	0.84[ASN][1000 genomes]
rs995450	1.00[JPT][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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs362644	PRKAR2B	cis	cerebellum	SCAN
rs362644	NAPEPLD	cis	parietal	SCAN
rs362644	FAM185A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103245000-103259600	Weak transcription	HepG2	liver
2	chr7:103251800-103252200	Strong transcription	K562	blood

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