Variant report

Variant	rs1993160
Chromosome Location	chr4:82280633-82280634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82276224..82278313-chr4:82278695..82280977,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10013788	0.91[AMR][1000 genomes]
rs10017744	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10021462	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10028610	0.91[AMR][1000 genomes]
rs11099465	0.91[EUR][1000 genomes]
rs11727754	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11731567	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11732090	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11732106	0.91[AMR][1000 genomes]
rs11736471	0.91[AMR][1000 genomes]
rs11736583	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11939135	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12332030	0.91[AMR][1000 genomes]
rs13435660	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1349641	0.92[EUR][1000 genomes]
rs1377059	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1443543	0.85[EUR][1000 genomes]
rs1452366	0.80[CEU][hapmap]
rs1452367	0.97[EUR][1000 genomes]
rs1551236	0.91[AMR][1000 genomes]
rs1662845	0.84[AFR][1000 genomes]
rs17428097	0.91[AMR][1000 genomes]
rs17428153	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17500037	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17500100	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2034628	0.92[EUR][1000 genomes]
rs2041461	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2058367	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2159656	0.98[EUR][1000 genomes]
rs2903765	0.85[EUR][1000 genomes]
rs4693996	0.87[EUR][1000 genomes]
rs4694006	0.91[EUR][1000 genomes]
rs6535242	0.91[EUR][1000 genomes]
rs6535243	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6814785	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6819909	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6821450	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6839968	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs6851443	0.85[EUR][1000 genomes]
rs6853731	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7654102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7660089	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7664953	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7669131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7673578	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7677239	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7681976	0.94[EUR][1000 genomes]
rs7694769	0.93[ASN][1000 genomes]
rs9307782	0.96[AMR][1000 genomes];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
rs1993160	PRKG2	cis	Nerve Tibial	GTEx
rs1993160	PAQR3	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82278800-82283600	Enhancers	NHDF-Ad	bronchial
2	chr4:82280000-82282800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:82280200-82280800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:82280200-82280800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:82280200-82280800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:82280200-82281000	Enhancers	NHLF	lung
7	chr4:82280600-82287200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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