Variant report

Variant	rs12476951
Chromosome Location	chr2:67880148-67880149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10171129	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs10182480	0.85[EUR][1000 genomes]
rs10191839	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs10194664	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs10195055	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs10195947	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10196069	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10204184	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs10205913	0.87[EUR][1000 genomes]
rs10207233	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10210853	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs11675524	0.88[EUR][1000 genomes]
rs11675630	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11681312	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11688644	0.88[CEU][hapmap]
rs13406813	0.87[EUR][1000 genomes]
rs13429296	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1367461	0.91[CEU][hapmap]
rs1978658	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1991639	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2116049	0.88[EUR][1000 genomes]
rs2116054	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2163366	0.87[EUR][1000 genomes]
rs35307778	0.86[EUR][1000 genomes]
rs4671821	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4671825	0.88[EUR][1000 genomes]
rs4671826	0.88[EUR][1000 genomes]
rs56209192	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62155360	0.88[EUR][1000 genomes]
rs6718114	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7608093	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9309403	0.89[CEU][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.86[EUR][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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12476951	ACTR2	cis	parietal	SCAN
rs12476951	PLEK	cis	lymphoblastoid	seeQTL
rs12476951	ASPRV1	cis	parietal	SCAN
rs12476951	ACTR2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67866800-67884200	Weak transcription	Aorta	Aorta
2	chr2:67879000-67883800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:67879200-67884000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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