Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49885381..49888079-chr8:49888285..49890479,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10504070	0.84[EUR][1000 genomes]
rs10957337	0.86[EUR][1000 genomes]
rs10957356	0.84[EUR][1000 genomes]
rs10957357	0.82[ASW][hapmap];0.92[CEU][hapmap];0.89[GIH][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap]
rs11778863	0.87[EUR][1000 genomes]
rs11784268	0.87[EUR][1000 genomes]
rs12546490	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1511365	0.84[EUR][1000 genomes]
rs17642290	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2292399	0.92[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap];0.81[YRI][hapmap]
rs35282337	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4406405	0.87[EUR][1000 genomes]
rs4873092	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4873300	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873304	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873306	0.87[EUR][1000 genomes]
rs4873307	0.87[EUR][1000 genomes]
rs4873312	0.92[CEU][hapmap]
rs55795863	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56074306	0.87[EUR][1000 genomes]
rs56078938	0.87[EUR][1000 genomes]
rs60449482	0.84[EUR][1000 genomes]
rs62507167	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62507177	0.84[EUR][1000 genomes]
rs62507178	0.87[EUR][1000 genomes]
rs7820270	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs974780	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][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	nsv1024584	chr8:49879137-49906780	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
2	nsv6181	chr8:49885342-49930514	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12056536	EFCAB1	cis	parietal	SCAN
rs12056536	SNTG1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49889000-49890800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:49889400-49891000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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