Variant report

Variant	rs1367767
Chromosome Location	chr1:71763081-71763082
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1009311	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11209747	0.85[AMR][1000 genomes]
rs11209756	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11209757	0.92[ASN][1000 genomes]
rs11209761	1.00[ASN][1000 genomes]
rs11209762	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811835	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118599	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12119958	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12131265	0.89[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap]
rs12139565	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12140289	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12729268	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12737582	1.00[ASN][1000 genomes]
rs12744775	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748649	0.85[AMR][1000 genomes]
rs1395289	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418449	0.82[ASN][1000 genomes]
rs1546809	0.87[ASN][1000 genomes]
rs1573061	0.84[ASN][1000 genomes]
rs1954285	0.84[ASN][1000 genomes]
rs2066371	0.84[ASN][1000 genomes]
rs2066373	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2639329	0.84[ASN][1000 genomes]
rs2639330	0.87[ASN][1000 genomes]
rs2639331	0.86[ASN][1000 genomes]
rs2639335	0.84[ASN][1000 genomes]
rs2639338	0.84[ASN][1000 genomes]
rs2694954	0.87[ASN][1000 genomes]
rs2790675	0.87[ASN][1000 genomes]
rs2796187	0.86[ASN][1000 genomes]
rs2796188	0.86[ASN][1000 genomes]
rs2796189	0.86[ASN][1000 genomes]
rs2796190	0.86[ASN][1000 genomes]
rs2796192	0.87[ASN][1000 genomes]
rs2796199	0.88[JPT][hapmap]
rs2796201	0.84[ASN][1000 genomes]
rs2796202	0.84[ASN][1000 genomes]
rs2796203	0.82[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4397614	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4425938	0.84[ASN][1000 genomes]
rs7525499	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556111	0.85[AMR][1000 genomes]
rs952337	0.83[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv1848377	chr1:71718838-71964514	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv531880	chr1:71724941-71964501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1367767	PTGER3	cis	Skin Sun Exposed Lower leg	GTEx
rs1367767	PTGER3	cis	uninvolved skin	skin_eQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71761000-71763200	Enhancers	HMEC	breast
2	chr1:71761000-71763400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:71761000-71763400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:71762200-71763200	Enhancers	Fetal Muscle Leg	muscle
5	chr1:71762400-71764400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:71762800-71764200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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