Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12465109	0.95[AFR][1000 genomes]
rs1367459	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1367460	0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1367462	1.00[CHB][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1367463	0.96[EUR][1000 genomes]
rs1541864	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1541865	0.96[EUR][1000 genomes]
rs1549782	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1583156	0.94[EUR][1000 genomes]
rs1594415	0.96[EUR][1000 genomes]
rs1991637	0.86[ASN][1000 genomes]
rs1991640	0.96[EUR][1000 genomes]
rs2861711	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861713	0.92[ASN][1000 genomes]
rs4671819	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4671820	0.96[EUR][1000 genomes]
rs4671824	0.83[EUR][1000 genomes]
rs4671828	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671830	1.00[CHB][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6733362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7557615	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7560271	0.86[ASN][1000 genomes]
rs971096	0.96[EUR][1000 genomes];0.82[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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv834250	chr2:67897722-68051532	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4671822	ACTR2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67893200-67903600	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr2:67903000-67903600	Enhancers	Left Ventricle	heart

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