Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37553880..37556117-chr2:37565295..37568146,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10177176	0.83[EUR][1000 genomes]
rs10190959	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11124578	0.80[ASN][1000 genomes]
rs1158218	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1158219	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11682607	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11683872	0.83[EUR][1000 genomes]
rs11689794	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12616151	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12618410	0.82[EUR][1000 genomes]
rs12712532	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13015451	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13027919	0.84[AFR][1000 genomes]
rs13030789	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2041836	0.84[EUR][1000 genomes]
rs2372993	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34819784	0.81[EUR][1000 genomes]
rs3770759	0.83[EUR][1000 genomes]
rs4670194	0.81[ASN][1000 genomes]
rs4670195	0.80[ASN][1000 genomes]
rs67467920	0.83[ASN][1000 genomes]
rs74177070	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7568510	0.87[ASN][1000 genomes]
rs7570547	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7584565	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9309004	0.85[EUR][1000 genomes]

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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7563610	CEBPZ	cis	Adipose Subcutaneous	GTEx
rs7563610	CEBPZ	cis	Nerve Tibial	GTEx
rs7563610	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37565000-37566400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:37565000-37566400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:37565200-37570600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:37565600-37566400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:37565600-37569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:37565600-37570600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:37566200-37569400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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