Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70082301..70084244-chr1:70095311..70098226,2	K562	blood:

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

rs_ID	r²[population]
rs10157748	0.84[ASN][1000 genomes]
rs11209496	0.80[ASN][1000 genomes]
rs11209505	0.86[CHB][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12036330	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs12084695	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs12122895	0.80[ASN][1000 genomes]
rs12136900	0.86[CHB][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap]
rs1245062	0.87[CHB][hapmap]
rs12564056	0.86[CHB][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1572984	0.87[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap]
rs17131004	0.86[CHB][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap]
rs2025598	0.86[ASN][1000 genomes]
rs2066296	0.86[CHB][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2901340	0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs36080227	0.84[ASN][1000 genomes]
rs61782242	0.84[ASN][1000 genomes]
rs61782244	0.84[ASN][1000 genomes]
rs6662257	0.87[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6699502	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs699223	0.84[ASN][1000 genomes]
rs800923	0.86[ASN][1000 genomes]
rs810347	0.86[ASN][1000 genomes]
rs810348	0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1773349	LRRC7	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70097000-70097400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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