Variant report

Variant	rs4694006
Chromosome Location	chr4:82207178-82207179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10017744	0.91[EUR][1000 genomes]
rs11099465	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11727754	0.91[EUR][1000 genomes]
rs11731567	0.91[EUR][1000 genomes]
rs11733845	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11736583	0.86[EUR][1000 genomes]
rs11939135	0.91[EUR][1000 genomes]
rs11942269	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13435660	0.91[EUR][1000 genomes]
rs1349641	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1443542	0.87[ASN][1000 genomes]
rs1443543	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1452364	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1452366	0.80[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes]
rs1452367	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1662845	0.85[ASN][1000 genomes]
rs1712387	0.85[ASN][1000 genomes]
rs17428153	0.87[EUR][1000 genomes]
rs17499131	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17500037	0.87[EUR][1000 genomes]
rs17500100	0.85[EUR][1000 genomes]
rs1993160	0.91[EUR][1000 genomes]
rs2034628	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2034630	0.85[ASN][1000 genomes]
rs2041461	0.90[EUR][1000 genomes]
rs2058367	0.91[EUR][1000 genomes]
rs2159656	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3114135	0.95[JPT][hapmap]
rs4693234	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4693996	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6535242	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6535243	0.89[EUR][1000 genomes]
rs6814785	0.91[EUR][1000 genomes]
rs6819909	0.91[EUR][1000 genomes]
rs6831114	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6839968	0.96[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7654102	0.91[EUR][1000 genomes]
rs7660089	0.87[EUR][1000 genomes]
rs7664953	0.91[EUR][1000 genomes]
rs7669131	0.91[EUR][1000 genomes]
rs7673578	0.91[EUR][1000 genomes]
rs7677239	0.91[EUR][1000 genomes]
rs7680637	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7681976	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7685645	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9307782	0.87[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4694006	PRKG2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82199600-82208200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:82204000-82210600	Weak transcription	Fetal Intestine Large	intestine
3	chr4:82206800-82209200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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