Variant report

Variant	rs2694954
Chromosome Location	chr1:71705578-71705579
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1009311	0.96[ASN][1000 genomes]
rs10493481	1.00[JPT][hapmap]
rs11209743	0.80[ASN][1000 genomes]
rs11209745	0.94[JPT][hapmap]
rs11209747	0.81[ASN][1000 genomes]
rs11209756	1.00[ASN][1000 genomes]
rs11209757	0.93[ASN][1000 genomes]
rs11209761	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11209762	0.87[ASN][1000 genomes]
rs11811835	0.87[ASN][1000 genomes]
rs12084460	0.94[JPT][hapmap]
rs12118599	0.96[ASN][1000 genomes]
rs12119958	1.00[ASN][1000 genomes]
rs12131265	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12139565	0.92[ASN][1000 genomes]
rs12140289	0.83[ASN][1000 genomes]
rs12729268	0.96[ASN][1000 genomes]
rs12737582	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12744775	0.87[ASN][1000 genomes]
rs12748649	0.81[ASN][1000 genomes]
rs1367767	0.87[ASN][1000 genomes]
rs1395289	0.87[ASN][1000 genomes]
rs1418449	0.92[ASN][1000 genomes]
rs1546809	1.00[ASN][1000 genomes]
rs1573061	0.96[ASN][1000 genomes]
rs1832900	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1954285	0.96[ASN][1000 genomes]
rs2066371	0.96[ASN][1000 genomes]
rs2066373	1.00[ASN][1000 genomes]
rs2639329	0.96[ASN][1000 genomes]
rs2639330	1.00[ASN][1000 genomes]
rs2639331	0.95[ASN][1000 genomes]
rs2639335	0.96[ASN][1000 genomes]
rs2639338	0.96[ASN][1000 genomes]
rs2790675	1.00[ASN][1000 genomes]
rs2796187	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2796188	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2796189	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2796190	0.98[ASN][1000 genomes]
rs2796192	1.00[ASN][1000 genomes]
rs2796196	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2796199	0.94[JPT][hapmap]
rs2796201	0.96[ASN][1000 genomes]
rs2796202	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2796203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2817869	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs4272572	0.89[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4367753	0.88[ASN][1000 genomes]
rs4397614	0.96[ASN][1000 genomes]
rs4425938	0.96[ASN][1000 genomes]
rs6680193	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7411	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs7516464	0.94[JPT][hapmap]
rs7519104	0.94[JPT][hapmap]
rs7525499	0.88[ASN][1000 genomes]
rs7556111	0.88[ASN][1000 genomes]
rs952337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[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	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1005726	chr1:71701840-71953242	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2694954	PTGER3	cis	uninvolved skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71705200-71706800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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