Variant report

Variant	rs6821450
Chromosome Location	chr4:82273625-82273626
allele	G/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]
rs10013788	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10017744	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10021462	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10028610	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11727754	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11731567	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11732090	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11732106	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11733845	0.90[EUR][1000 genomes]
rs11736471	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11736583	0.89[AMR][1000 genomes]
rs11939135	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11942269	0.90[EUR][1000 genomes]
rs12332030	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13435660	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1377059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1443542	0.83[EUR][1000 genomes]
rs1452364	0.90[EUR][1000 genomes]
rs1452366	0.96[EUR][1000 genomes]
rs1551236	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17428097	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17428153	0.89[AMR][1000 genomes]
rs17499131	0.90[EUR][1000 genomes]
rs17500037	0.89[AMR][1000 genomes]
rs17500100	0.88[AMR][1000 genomes]
rs1993160	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2034630	0.91[EUR][1000 genomes]
rs2041461	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2058367	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4693234	0.94[EUR][1000 genomes]
rs62303573	0.87[EUR][1000 genomes]
rs6535243	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6814785	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6819909	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6831114	0.90[EUR][1000 genomes]
rs6853731	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7654102	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7660089	0.89[AMR][1000 genomes]
rs7664953	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7669131	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7673578	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7677239	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7680637	0.93[EUR][1000 genomes]
rs7685645	0.94[EUR][1000 genomes]
rs7694769	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9307782	0.89[AMR][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
rs6821450	PRKG2	cis	Nerve Tibial	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82271000-82273800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:82272000-82274200	Enhancers	NHLF	lung
3	chr4:82272200-82275400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:82273000-82273800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:82273000-82274800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:82273000-82275400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:82273200-82273800	Flanking Active TSS	NHDF-Ad	bronchial
8	chr4:82273400-82273800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:82273400-82274000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:82273400-82274200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:82273400-82274800	Weak transcription	Fetal Intestine Small	intestine
12	chr4:82273600-82274000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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