Variant report

Variant	rs7478974
Chromosome Location	chr11:45343932-45343933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10742748	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10742749	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755314	0.81[EUR][1000 genomes]
rs4755962	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4755965	0.83[EUR][1000 genomes]
rs4755966	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4755967	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4755969	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755970	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755975	0.87[EUR][1000 genomes]
rs6416133	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6485613	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6485614	0.93[EUR][1000 genomes]
rs6485615	0.86[EUR][1000 genomes]
rs6485616	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6485619	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6485620	0.87[GIH][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs7106802	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7110287	0.83[EUR][1000 genomes]
rs7112192	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112723	0.83[EUR][1000 genomes]
rs7124597	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7479052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7480542	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7925771	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7946683	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9667484	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7478974	LRP4	cis	parietal	SCAN
rs7478974	LRP4	cis	cerebellum	SCAN
rs7478974	MYBPC3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45326400-45344200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:45342400-45346400	Enhancers	Fetal Muscle Leg	muscle
3	chr11:45343800-45344200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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