Variant report

Variant	rs4693234
Chromosome Location	chr4:82241943-82241944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10013788	0.91[EUR][1000 genomes]
rs10021462	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10028610	0.91[EUR][1000 genomes]
rs11099465	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11732090	0.94[EUR][1000 genomes]
rs11732106	0.91[EUR][1000 genomes]
rs11733845	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11736471	0.91[EUR][1000 genomes]
rs11942269	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12332030	0.91[EUR][1000 genomes]
rs1349641	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1377059	0.95[EUR][1000 genomes]
rs1443542	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1443543	0.90[AMR][1000 genomes]
rs1452364	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1452366	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1452367	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1551236	0.93[EUR][1000 genomes]
rs17428097	0.91[EUR][1000 genomes]
rs17499131	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2034628	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2034630	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2159656	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3114135	0.95[JPT][hapmap]
rs4693996	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4694006	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62303573	0.82[EUR][1000 genomes]
rs6535242	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6821450	0.94[EUR][1000 genomes]
rs6831114	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6839968	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6853731	0.94[EUR][1000 genomes]
rs7680637	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7681976	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7685645	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694769	0.94[EUR][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
rs4693234	PAQR3	cis	cerebellum	SCAN
rs4693234	PRKG2	cis	Nerve Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82236400-82242600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:82240600-82242000	Enhancers	Fetal Intestine Large	intestine
3	chr4:82240800-82242600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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