Variant report

Variant	rs754523
Chromosome Location	chr2:21311691-21311692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11693545	0.84[AMR][1000 genomes]
rs11693760	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11693775	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11693870	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12052779	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1367113	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1367115	0.83[EUR][1000 genomes]
rs17395333	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17395512	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17399144	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1897083	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2115838	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2163203	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2195597	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2337383	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2878956	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs401211	0.84[CHB][hapmap]
rs412255	0.85[CHB][hapmap]
rs427075	0.84[CHB][hapmap]
rs427095	0.85[CHB][hapmap]
rs430872	0.85[CHB][hapmap]
rs454826	0.85[CHB][hapmap]
rs4665176	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4665178	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4665179	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4665492	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56079819	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56090741	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56201838	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56306424	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs565202	0.96[ASN][1000 genomes]
rs571468	0.94[ASN][1000 genomes]
rs594677	0.94[ASN][1000 genomes]
rs61539677	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62122514	0.81[EUR][1000 genomes]
rs62122515	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62122516	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62122520	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62133263	0.85[EUR][1000 genomes]
rs62133264	0.82[EUR][1000 genomes]
rs62135035	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6548010	0.83[EUR][1000 genomes]
rs6548011	0.83[EUR][1000 genomes]
rs6726115	0.83[EUR][1000 genomes]
rs7566030	0.81[EUR][1000 genomes]
rs7575840	0.81[EUR][1000 genomes]
rs7590135	0.83[EUR][1000 genomes]
rs934198	0.83[EUR][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs754523	ATAD2B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21311200-21312400	Enhancers	HepG2	liver

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