Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11723619	0.85[ASN][1000 genomes]
rs11732408	0.86[EUR][1000 genomes]
rs1452374	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1473160	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17005118	0.97[ASN][1000 genomes]
rs17427571	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs17499732	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17499829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500149	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2034629	0.82[EUR][1000 genomes]
rs2058368	0.86[EUR][1000 genomes]
rs2839753	0.96[ASN][1000 genomes]
rs34347934	0.86[EUR][1000 genomes]
rs41501452	0.86[EUR][1000 genomes]
rs41515854	0.86[EUR][1000 genomes]
rs62302352	0.84[EUR][1000 genomes]
rs62303570	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6812825	0.86[EUR][1000 genomes]
rs6824784	0.86[EUR][1000 genomes]
rs725826	0.81[ASN][1000 genomes]
rs7656390	0.85[ASN][1000 genomes]
rs7658313	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7669368	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7685840	0.85[ASN][1000 genomes]
rs7696324	0.86[EUR][1000 genomes]
rs7698361	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][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
rs17499843	PAQR3	cis	cerebellum	SCAN
rs17499843	PRKG2	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82297200-82303000	Enhancers	Fetal Intestine Small	intestine
2	chr4:82297800-82302800	Enhancers	Fetal Intestine Large	intestine
3	chr4:82298000-82300600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:82298400-82299800	Enhancers	Fetal Lung	lung
5	chr4:82298600-82300400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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