Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62460792..62463670-chr12:62464404..62466641,2	K562	blood:

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

rs_ID	r²[population]
rs1146077	0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1146078	0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1146080	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1146081	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1146083	0.92[CHB][hapmap]
rs1245424	0.92[CHB][hapmap]
rs191551	0.90[JPT][hapmap]
rs2951531	0.90[JPT][hapmap]
rs348635	0.90[JPT][hapmap]
rs348636	0.81[JPT][hapmap]
rs348639	0.90[JPT][hapmap];0.83[MEX][hapmap]
rs348652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs348655	0.81[JPT][hapmap]
rs348660	0.90[JPT][hapmap]
rs348661	0.90[JPT][hapmap]
rs348662	0.90[JPT][hapmap]
rs348663	0.90[JPT][hapmap]
rs348679	0.81[JPT][hapmap]
rs348686	0.81[JPT][hapmap]
rs348687	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039741	chr12:62046850-62491052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs348638	MIP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62462800-62465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:62464800-62465000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:62464800-62465200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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