Variant report

Variant	rs17293712
Chromosome Location	chr8:65591720-65591721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:65588820..65590432-chr8:65591051..65593548,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13248755	0.89[CEU][hapmap]
rs13255280	0.89[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs13259721	0.89[CEU][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs13261981	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264230	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13265049	0.89[CEU][hapmap]
rs13266877	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13268326	1.00[CHD][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13277887	1.00[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278868	1.00[CHD][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs13280706	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17358602	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2356984	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2356990	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34618827	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34885537	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35107809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36053206	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62521082	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6980478	1.00[CHD][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs9650211	0.89[CEU][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9650212	0.89[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][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	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv1847262	chr8:65509694-65595527	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17293712	CHD7	cis	parietal	SCAN
rs17293712	CYP7B1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65586000-65605400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:65590800-65605600	Weak transcription	Spleen	Spleen

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