Variant report

Variant	rs10852502
Chromosome Location	chr16:71652072-71652073
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1058750	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852503	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075893	0.95[EUR][1000 genomes]
rs11075894	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075898	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075904	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11862723	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12923990	0.85[EUR][1000 genomes]
rs12929547	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364210	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1392484	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423983	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032918	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052584	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052585	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113223	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2133773	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247603	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2334880	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4354946	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788548	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788550	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788553	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788557	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788810	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788813	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788820	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788822	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788823	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788825	0.90[EUR][1000 genomes]
rs4788828	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499526	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499527	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499528	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499529	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499530	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499531	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499534	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499540	1.00[ASN][1000 genomes]
rs7186112	1.00[ASN][1000 genomes]
rs7187948	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188675	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190487	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193549	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195059	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201649	0.81[EUR][1000 genomes]
rs7202479	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204118	0.81[EUR][1000 genomes]
rs7204608	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204967	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204992	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206470	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7359478	1.00[ASN][1000 genomes]
rs8044144	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8051968	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052910	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053186	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053745	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055419	0.82[EUR][1000 genomes]
rs8058297	0.99[EUR][1000 genomes]
rs8062188	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889568	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9635524	1.00[ASN][1000 genomes]
rs979790	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888756	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929840	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9929985	1.00[ASN][1000 genomes]
rs9930015	0.82[EUR][1000 genomes]
rs9931074	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934789	0.90[EUR][1000 genomes]
rs9937511	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939458	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3430225	chr16:71633500-71661205	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10852502	PHLPP2	cis	Muscle Skeletal	GTEx
rs10852502	MARVELD3	cis	Skin Sun Exposed Lower leg	GTEx
rs10852502	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71650400-71658400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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