Variant report

Variant	rs1443542
Chromosome Location	chr4:82177303-82177304
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10013788	0.81[EUR][1000 genomes]
rs10021462	0.82[EUR][1000 genomes]
rs10028610	0.81[EUR][1000 genomes]
rs11099465	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11732090	0.84[EUR][1000 genomes]
rs11732106	0.81[EUR][1000 genomes]
rs11733845	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11736471	0.81[EUR][1000 genomes]
rs11942269	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12332030	0.81[EUR][1000 genomes]
rs1349641	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1377059	0.84[EUR][1000 genomes]
rs1443543	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1452364	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1452366	0.96[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1452367	0.94[AMR][1000 genomes]
rs1551236	0.83[EUR][1000 genomes]
rs1662845	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1712387	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17428097	0.81[EUR][1000 genomes]
rs17499131	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2034628	0.90[AMR][1000 genomes]
rs2034630	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2159656	0.94[AMR][1000 genomes]
rs3114135	1.00[JPT][hapmap]
rs4693234	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4693996	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4694006	0.87[ASN][1000 genomes]
rs6535242	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6821450	0.83[EUR][1000 genomes]
rs6831114	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6839968	0.80[CEU][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes]
rs6853731	0.84[EUR][1000 genomes]
rs7680637	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7681976	0.87[AMR][1000 genomes]
rs7685645	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7694769	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1443542	PRKG2	cis	Nerve Tibial	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82174800-82178800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:82175000-82177400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:82175000-82183400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:82175600-82179200	Enhancers	NHDF-Ad	bronchial
5	chr4:82175800-82179200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:82175800-82179600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:82176200-82178800	Enhancers	NHLF	lung
8	chr4:82176200-82181200	Enhancers	Fetal Intestine Large	intestine
9	chr4:82176800-82177600	Enhancers	Fetal Lung	lung
10	chr4:82176800-82178000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:82176800-82178200	Enhancers	A549	lung
12	chr4:82176800-82181800	Enhancers	Fetal Intestine Small	intestine
13	chr4:82177000-82179000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:82177000-82179000	Enhancers	NH-A	brain
15	chr4:82177000-82179600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:82177200-82177800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:82177200-82178000	Enhancers	Osteobl	bone
18	chr4:82177200-82179000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:82177200-82179200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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