Variant report

Variant	rs1349641
Chromosome Location	chr4:82212652-82212653
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82209550..82211788-chr4:82211978..82214225,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10017744	0.91[EUR][1000 genomes]
rs11099465	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11727754	0.91[EUR][1000 genomes]
rs11731567	0.92[EUR][1000 genomes]
rs11733845	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11736583	0.86[EUR][1000 genomes]
rs11939135	0.92[EUR][1000 genomes]
rs11942269	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13435660	0.91[EUR][1000 genomes]
rs1443542	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1443543	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1452364	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1452366	0.80[AMR][1000 genomes]
rs1452367	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1662845	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1712387	0.83[ASN][1000 genomes]
rs17428153	0.87[EUR][1000 genomes]
rs17499131	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17500037	0.87[EUR][1000 genomes]
rs17500100	0.86[EUR][1000 genomes]
rs1993160	0.92[EUR][1000 genomes]
rs2034628	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2034630	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2041461	0.90[EUR][1000 genomes]
rs2058367	0.92[EUR][1000 genomes]
rs2159656	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4693234	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4693996	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4694006	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6535242	1.00[AMR][1000 genomes];0.99[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	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6839968	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7654102	0.92[EUR][1000 genomes]
rs7660089	0.87[EUR][1000 genomes]
rs7664953	0.92[EUR][1000 genomes]
rs7669131	0.92[EUR][1000 genomes]
rs7673578	0.92[EUR][1000 genomes]
rs7677239	0.92[EUR][1000 genomes]
rs7680637	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7681976	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7685645	0.91[AMR][1000 genomes];0.85[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
rs1349641	PRKG2	cis	Nerve Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82210600-82214200	Enhancers	Fetal Intestine Large	intestine
2	chr4:82211000-82215000	Enhancers	Fetal Intestine Small	intestine
3	chr4:82212400-82212800	Enhancers	Duodenum Mucosa	Duodenum
4	chr4:82212400-82213200	Enhancers	Small Intestine	intestine
5	chr4:82212600-82213200	Enhancers	Fetal Kidney	kidney

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