Variant report

Variant	rs725826
Chromosome Location	chr4:82277656-82277657
allele	C/G
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: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10006067	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11722445	0.88[EUR][1000 genomes]
rs11723613	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11723619	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11725731	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11732408	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1377057	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1452365	0.88[EUR][1000 genomes]
rs1452374	0.85[ASN][1000 genomes]
rs1473160	0.98[ASN][1000 genomes]
rs17005118	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17427459	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17427571	0.82[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap];0.89[ASN][1000 genomes]
rs17499327	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17499732	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17499829	0.81[ASN][1000 genomes]
rs17499843	0.81[ASN][1000 genomes]
rs2011962	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2034629	0.86[ASN][1000 genomes]
rs2034632	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2058368	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2109662	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2839753	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3098973	0.81[AMR][1000 genomes]
rs34347934	0.94[ASN][1000 genomes]
rs41501452	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs41515854	0.95[ASN][1000 genomes]
rs4463061	0.88[EUR][1000 genomes]
rs56075827	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58877260	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59498284	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60825648	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62302314	0.87[EUR][1000 genomes]
rs62302352	0.89[ASN][1000 genomes]
rs62303570	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6812825	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6824784	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs710835	0.93[JPT][hapmap]
rs7656390	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7658313	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7669368	0.98[ASN][1000 genomes]
rs7685840	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7696324	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7698086	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7699396	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7699600	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs788855	0.93[JPT][hapmap]
rs788861	0.93[JPT][hapmap]

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
rs725826	PAQR3	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82274200-82280200	Weak transcription	NHLF	lung
2	chr4:82274400-82279200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:82275400-82280200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:82275400-82280200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:82276000-82280000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:82276400-82279600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:82277200-82278400	Enhancers	NHDF-Ad	bronchial
8	chr4:82277600-82278200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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