Variant report

Variant	rs4974235
Chromosome Location	chr3:60841817-60841818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10048949	1.00[CEU][hapmap]
rs10510855	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11130791	0.86[ASW][hapmap]
rs13071895	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap]
rs13075102	0.82[CEU][hapmap]
rs13078972	1.00[CEU][hapmap]
rs13088848	0.91[EUR][1000 genomes]
rs1447914	1.00[CEU][hapmap]
rs1839068	0.83[EUR][1000 genomes]
rs1947159	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1947160	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs2100152	0.88[EUR][1000 genomes]
rs2142297	0.83[EUR][1000 genomes]
rs2205354	0.83[EUR][1000 genomes]
rs2223084	0.84[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs2250114	0.88[EUR][1000 genomes]
rs2594132	0.88[EUR][1000 genomes]
rs2594133	0.88[EUR][1000 genomes]
rs2594136	0.83[EUR][1000 genomes]
rs2736748	0.88[EUR][1000 genomes]
rs2736750	0.85[EUR][1000 genomes]
rs2736751	0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs2736752	0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs2736753	0.88[EUR][1000 genomes]
rs34686536	0.80[EUR][1000 genomes]
rs34696953	0.90[EUR][1000 genomes]
rs35871234	0.92[EUR][1000 genomes]
rs6766713	1.00[CEU][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs6769544	1.00[CEU][hapmap]
rs6772719	0.84[CEU][hapmap]
rs6780515	1.00[CEU][hapmap];0.95[TSI][hapmap]
rs6783370	1.00[CEU][hapmap]
rs6785030	1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[TSI][hapmap]
rs6785095	0.94[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs6785140	1.00[CEU][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.92[TSI][hapmap]
rs6791272	0.94[CEU][hapmap]
rs67917562	0.93[EUR][1000 genomes]
rs6793095	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap]
rs6793385	1.00[CEU][hapmap]
rs6795855	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap]
rs6803394	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap]
rs7613542	0.93[CEU][hapmap];0.87[GIH][hapmap]
rs7627303	1.00[CEU][hapmap]
rs7644380	1.00[CEU][hapmap]
rs7646851	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs9754605	1.00[CEU][hapmap]
rs9827591	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs9834435	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap]
rs9849318	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap]
rs9849474	1.00[CEU][hapmap]

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	nsv534038	chr3:60781917-60993082	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2757872	chr3:60781943-61019003	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2759152	chr3:60781943-61220809	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4974235	ACOX2	cis	parietal	SCAN
rs4974235	DNAH12	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60839600-60842600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:60839600-60842800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr3:60840400-60842800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:60841400-60842200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:60841800-60842200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr3:60841800-60842600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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