Variant report

Variant	rs2034628
Chromosome Location	chr4:82226456-82226457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10017744	0.92[EUR][1000 genomes]
rs11099465	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11727754	0.92[EUR][1000 genomes]
rs11731567	0.92[EUR][1000 genomes]
rs11733845	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11736583	0.87[EUR][1000 genomes]
rs11939135	0.92[EUR][1000 genomes]
rs11942269	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13435660	0.92[EUR][1000 genomes]
rs1349641	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1443542	0.90[AMR][1000 genomes]
rs1443543	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1452364	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1452366	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1452367	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1662845	0.81[AMR][1000 genomes]
rs17428153	0.88[EUR][1000 genomes]
rs17499131	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17500037	0.88[EUR][1000 genomes]
rs17500100	0.86[EUR][1000 genomes]
rs1993160	0.92[EUR][1000 genomes]
rs2034630	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2041461	0.91[EUR][1000 genomes]
rs2058367	0.92[EUR][1000 genomes]
rs2159656	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4693234	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4693996	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4694006	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6535242	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6535243	0.90[EUR][1000 genomes]
rs6814785	0.92[EUR][1000 genomes]
rs6819909	0.92[EUR][1000 genomes]
rs6831114	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6839968	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7654102	0.92[EUR][1000 genomes]
rs7660089	0.88[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	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7681976	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7685645	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9307782	0.88[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
rs2034628	PRKG2	cis	Nerve Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82224800-82227800	Weak transcription	Fetal Brain Male	brain
2	chr4:82225400-82228600	Weak transcription	Fetal Brain Female	brain
3	chr4:82225800-82227000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:82226200-82226600	Weak transcription	Fetal Lung	lung

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