Variant report

Variant	rs17054227
Chromosome Location	chr3:54651208-54651209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10510769	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10510770	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10510771	1.00[JPT][hapmap]
rs10510772	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1130197	0.86[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914640	1.00[ASN][1000 genomes]
rs11914780	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11914973	1.00[JPT][hapmap]
rs11920788	1.00[JPT][hapmap]
rs11924275	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11925949	1.00[JPT][hapmap]
rs12185982	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1427774	1.00[ASN][1000 genomes]
rs17054246	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17054250	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17054291	1.00[JPT][hapmap]
rs17054293	1.00[JPT][hapmap]
rs17054340	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17815617	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17816548	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17816566	1.00[ASN][1000 genomes]
rs1863858	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2359857	0.86[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28455661	1.00[ASN][1000 genomes]
rs2884808	1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34478567	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs41381544	1.00[ASN][1000 genomes]
rs4345041	0.85[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4358270	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs4386460	0.95[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55675480	1.00[ASN][1000 genomes]
rs55772258	1.00[ASN][1000 genomes]
rs55779022	0.92[EUR][1000 genomes]
rs56008232	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56091855	0.92[EUR][1000 genomes]
rs56112781	1.00[ASN][1000 genomes]
rs56209938	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56260111	0.91[EUR][1000 genomes]
rs56356828	0.90[EUR][1000 genomes]
rs56976748	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57924227	1.00[ASN][1000 genomes]
rs58295654	1.00[ASN][1000 genomes]
rs59004379	1.00[ASN][1000 genomes]
rs62255527	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255532	0.92[EUR][1000 genomes]
rs62255533	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255534	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255535	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255536	1.00[ASN][1000 genomes]
rs62255538	1.00[ASN][1000 genomes]
rs6803005	0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72870661	1.00[ASN][1000 genomes]
rs72870676	1.00[ASN][1000 genomes]
rs72870688	1.00[ASN][1000 genomes]
rs72872218	1.00[ASN][1000 genomes]
rs72872226	1.00[ASN][1000 genomes]
rs72872229	1.00[ASN][1000 genomes]
rs72872244	1.00[ASN][1000 genomes]
rs72872259	1.00[ASN][1000 genomes]
rs72872285	1.00[ASN][1000 genomes]
rs72874203	1.00[ASN][1000 genomes]
rs72874204	1.00[ASN][1000 genomes]
rs73068445	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737517	1.00[JPT][hapmap]
rs7624695	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17054227	ESRG	cis	Whole Blood	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54646800-54655200	Weak transcription	Brain Angular Gyrus	brain
2	chr3:54650400-54654600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:54651000-54666400	Weak transcription	H9 Cell Line	embryonic stem cell

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