Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55687006..55688643-chr2:55695301..55697827,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10174532	0.82[ASN][1000 genomes]
rs10206363	0.93[ASN][1000 genomes]
rs1037509	0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs11125575	0.81[ASN][1000 genomes]
rs11125578	0.99[ASN][1000 genomes]
rs11884094	0.92[ASN][1000 genomes]
rs12999476	0.93[ASN][1000 genomes]
rs13399420	0.87[ASN][1000 genomes]
rs13412745	0.86[ASN][1000 genomes]
rs1454425	0.86[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs4671245	0.95[ASN][1000 genomes]
rs4672046	0.95[ASN][1000 genomes]
rs6545500	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545501	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs6719033	0.82[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs6724457	0.93[ASN][1000 genomes]
rs7570226	0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.94[LWK][hapmap];0.91[MKK][hapmap];0.93[ASN][1000 genomes]
rs7570299	0.91[CHB][hapmap];0.93[ASN][1000 genomes]
rs7593229	0.91[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs897095	0.93[ASN][1000 genomes]
rs897096	0.93[ASN][1000 genomes]
rs897097	0.91[CHB][hapmap];0.93[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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7567744	CCDC88A	cis	cerebellum	SCAN
rs7567744	PNPT1	Cis_1M	lymphoblastoid	RTeQTL
rs7567744	PRDXDD1P	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55695800-55697200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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