Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:154436261..154438740-chr5:154452918..154455048,2	K562	blood:
2	chr5:154062466..154064358-chr5:154453743..154456113,2	K562	blood:

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

rs_ID	r²[population]
rs10071858	0.84[EUR][1000 genomes]
rs10077934	0.80[EUR][1000 genomes]
rs10078853	0.83[EUR][1000 genomes]
rs11167710	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs13154769	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13179975	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17650275	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34974326	0.85[EUR][1000 genomes]
rs36059089	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4958397	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs4958781	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs58600572	1.00[ASN][1000 genomes]
rs66691937	0.84[EUR][1000 genomes]
rs67562605	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6869991	0.86[EUR][1000 genomes]
rs6870353	0.81[EUR][1000 genomes]
rs6883288	0.84[EUR][1000 genomes]
rs72801519	1.00[ASN][1000 genomes]
rs7713042	0.84[EUR][1000 genomes]
rs7715693	0.91[CEU][hapmap]
rs7719709	0.91[CEU][hapmap]
rs7724975	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023588	chr5:154415586-154464455	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12187264	ITK	cis	cerebellum	SCAN
rs12187264	SGCD	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154454600-154455800	Weak transcription	Fetal Heart	heart
2	chr5:154454600-154456800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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