Variant report

Variant	rs1975474
Chromosome Location	chr4:82178937-82178938
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10006067	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10488936	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11722445	0.93[ASN][1000 genomes]
rs11723613	0.85[ASN][1000 genomes]
rs11732408	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11938641	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1377057	0.84[ASN][1000 genomes]
rs1400746	0.89[ASN][1000 genomes]
rs1443541	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1452365	0.93[ASN][1000 genomes]
rs1452374	0.81[EUR][1000 genomes]
rs1467206	0.86[ASN][1000 genomes]
rs1473160	0.81[EUR][1000 genomes]
rs1517550	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1517553	0.82[ASN][1000 genomes]
rs1517554	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1568201	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1662837	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1662838	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1662839	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1662840	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1662842	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1662843	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1662844	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1662846	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1712374	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1712379	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17427459	0.82[ASN][1000 genomes]
rs17427571	0.91[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[EUR][1000 genomes]
rs17499327	0.85[ASN][1000 genomes]
rs17499732	0.81[EUR][1000 genomes]
rs17556750	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1878528	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011962	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2034629	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2034632	0.85[ASN][1000 genomes]
rs2044211	0.82[ASN][1000 genomes]
rs2058368	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2120301	0.82[ASN][1000 genomes]
rs2197271	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28661028	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2868182	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3098970	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3098972	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3098973	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3114136	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3114140	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34347934	0.81[EUR][1000 genomes]
rs41501452	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41515854	0.81[EUR][1000 genomes]
rs4463061	0.93[ASN][1000 genomes]
rs56123401	0.82[ASN][1000 genomes]
rs57222629	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60825648	0.85[ASN][1000 genomes]
rs61104118	0.82[ASN][1000 genomes]
rs61371439	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62302272	0.84[ASN][1000 genomes]
rs62302275	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62302285	0.90[ASN][1000 genomes]
rs62302286	0.91[ASN][1000 genomes]
rs62302305	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62302308	0.98[ASN][1000 genomes]
rs62302314	0.93[ASN][1000 genomes]
rs62302352	0.83[EUR][1000 genomes]
rs62303570	0.81[EUR][1000 genomes]
rs6535240	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6812825	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6813437	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6824784	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs710835	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs710838	0.84[ASN][1000 genomes]
rs710839	0.84[ASN][1000 genomes]
rs710840	0.84[ASN][1000 genomes]
rs710841	0.87[ASN][1000 genomes]
rs7658313	0.81[EUR][1000 genomes]
rs7661369	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7669368	0.81[EUR][1000 genomes]
rs7691253	0.82[ASN][1000 genomes]
rs7696324	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs788855	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs788857	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs788861	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs788862	0.85[ASN][1000 genomes]
rs788863	0.84[ASN][1000 genomes]
rs788864	0.84[ASN][1000 genomes]
rs994014	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][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
rs1975474	PRKG2	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82175000-82183400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:82175600-82179200	Enhancers	NHDF-Ad	bronchial
3	chr4:82175800-82179200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:82175800-82179600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:82176200-82181200	Enhancers	Fetal Intestine Large	intestine
6	chr4:82176800-82181800	Enhancers	Fetal Intestine Small	intestine
7	chr4:82177000-82179000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:82177000-82179000	Enhancers	NH-A	brain
9	chr4:82177000-82179600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:82177200-82179000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:82177200-82179200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:82178000-82179200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:82178600-82179600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:82178600-82179600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:82178800-82179000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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