Variant report

Variant	rs2736751
Chromosome Location	chr3:60817248-60817249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10048949	0.82[CEU][hapmap]
rs10510855	0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs13071895	0.92[TSI][hapmap]
rs13075102	0.81[TSI][hapmap]
rs13078972	0.82[CEU][hapmap]
rs13088848	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1447914	0.82[CEU][hapmap]
rs1839068	0.94[CEU][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs1839069	0.87[EUR][1000 genomes]
rs1947159	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs1947160	0.89[EUR][1000 genomes]
rs2100152	1.00[CEU][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2142297	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2205354	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2223084	1.00[ASW][hapmap];0.94[CEU][hapmap];0.82[GIH][hapmap];0.92[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2250114	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2594132	1.00[CEU][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2594133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2594136	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2736748	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2736750	1.00[CEU][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2736752	1.00[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs2736753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736754	0.90[ASW][hapmap];0.82[YRI][hapmap]
rs34696953	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35871234	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4974235	0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs6766713	0.83[CEU][hapmap];0.92[TSI][hapmap]
rs6769544	0.82[CEU][hapmap]
rs6780515	0.83[CEU][hapmap];0.92[TSI][hapmap]
rs6783370	0.82[CEU][hapmap]
rs6785030	0.83[CEU][hapmap];0.92[TSI][hapmap]
rs6785095	0.92[TSI][hapmap]
rs6785140	0.83[CEU][hapmap];0.88[TSI][hapmap]
rs67917562	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6793095	0.92[TSI][hapmap]
rs6793385	0.81[CEU][hapmap]
rs6795855	0.83[CEU][hapmap];0.92[TSI][hapmap]
rs6803394	0.92[TSI][hapmap]
rs7627303	0.82[CEU][hapmap]
rs7646851	0.84[TSI][hapmap]
rs9754605	0.87[CEU][hapmap]
rs9827591	0.92[TSI][hapmap]
rs9834435	0.83[CEU][hapmap];0.92[TSI][hapmap]
rs9849318	0.92[TSI][hapmap]
rs9849474	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529602	chr3:60088353-60830769	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv998815	chr3:60495872-60830769	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2736751	SON	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60811400-60821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:60815800-60818000	Weak transcription	H9 Cell Line	embryonic stem cell

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