Variant report

Variant	rs16973286
Chromosome Location	chr16:71552257-71552258
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10468265	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11862723	1.00[GIH][hapmap]
rs12325234	0.85[CEU][hapmap]
rs12444714	0.81[ASW][hapmap];0.84[CEU][hapmap];0.82[TSI][hapmap]
rs12918320	0.85[CEU][hapmap];0.94[TSI][hapmap]
rs12919092	0.85[CEU][hapmap]
rs13336809	0.90[EUR][1000 genomes]
rs1423983	1.00[GIH][hapmap]
rs16972808	0.95[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16973112	0.90[ASW][hapmap];0.95[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16973190	0.81[ASW][hapmap];0.95[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1804984	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2052873	0.95[CEU][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs2247603	1.00[GIH][hapmap]
rs3886947	0.94[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4788548	1.00[GIH][hapmap]
rs4788550	1.00[GIH][hapmap]
rs4788810	1.00[GIH][hapmap]
rs4788828	1.00[GIH][hapmap]
rs56222754	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57821244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59364668	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61171207	0.91[EUR][1000 genomes]
rs6499520	0.84[CEU][hapmap]
rs6499526	1.00[GIH][hapmap]
rs6499528	1.00[GIH][hapmap]
rs6499530	1.00[GIH][hapmap]
rs7188675	1.00[GIH][hapmap]
rs7193549	1.00[GIH][hapmap]
rs7195059	1.00[GIH][hapmap]
rs7204608	1.00[GIH][hapmap]
rs72791971	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72791974	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72795864	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72795867	0.96[AMR][1000 genomes]
rs72795869	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72795881	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72797728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051439	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs8056735	0.95[CEU][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs9989376	0.83[EUR][1000 genomes]
rs9989377	0.91[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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv906892	chr16:71526720-71570413	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs16973286	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx
rs16973286	CBFB	cis	parietal	SCAN
rs16973286	B3GNT9	cis	parietal	SCAN
rs16973286	SF3B3	cis	parietal	SCAN
rs16973286	C16orf86	cis	parietal	SCAN
rs16973286	COG4	cis	parietal	SCAN
rs16973286	ZNF23	cis	parietal	SCAN
rs16973286	RANBP10	cis	parietal	SCAN
rs16973286	CTCF	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71549200-71558400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:71551200-71554400	Weak transcription	Pancreas	Pancrea

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