Variant report

Variant	rs17005118
Chromosome Location	chr4:82288564-82288565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10006067	0.89[EUR][1000 genomes]
rs11722445	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11723613	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11723619	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11725731	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11732408	0.83[ASN][1000 genomes]
rs1377057	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1452365	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1452374	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1473160	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1517554	0.80[EUR][1000 genomes]
rs17427459	0.85[EUR][1000 genomes]
rs17427571	0.82[CEU][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes]
rs17499327	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17499732	0.98[ASN][1000 genomes]
rs17499829	0.97[ASN][1000 genomes]
rs17499843	0.97[ASN][1000 genomes]
rs17500149	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2011962	0.93[EUR][1000 genomes]
rs2034632	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2058368	0.83[ASN][1000 genomes]
rs2109662	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2839753	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34347934	0.80[AMR][1000 genomes]
rs41501452	0.81[ASN][1000 genomes]
rs41515854	0.80[AMR][1000 genomes]
rs4463061	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56075827	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58877260	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59498284	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60825648	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62302314	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62302352	0.82[AMR][1000 genomes]
rs62303570	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6812825	0.83[ASN][1000 genomes]
rs6824784	0.83[ASN][1000 genomes]
rs725826	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7656390	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7658313	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7669368	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7685840	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7696324	0.83[ASN][1000 genomes]
rs7698086	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7698361	0.87[ASN][1000 genomes]
rs7699396	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7699600	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829985	chr4:82199328-82353656	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17005118	PRKG2	cis	parietal	SCAN
rs17005118	PAQR3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82288000-82288600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:82288200-82289000	Enhancers	NHDF-Ad	bronchial

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