Variant report

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10510772	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11914640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11914780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11918101	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11924275	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12185982	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17054250	0.80[AMR][1000 genomes]
rs17054340	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17816548	0.83[AMR][1000 genomes]
rs1863858	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28455661	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34478567	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41381544	0.83[AMR][1000 genomes]
rs55675480	0.83[AMR][1000 genomes]
rs57924227	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58295654	0.89[AMR][1000 genomes]
rs59004379	0.86[AMR][1000 genomes]
rs72870661	0.80[AMR][1000 genomes]
rs72870676	0.80[AMR][1000 genomes]
rs72872218	0.83[AMR][1000 genomes]
rs72872226	0.81[AMR][1000 genomes]
rs72872229	0.83[AMR][1000 genomes]
rs72872244	0.83[AMR][1000 genomes]
rs72872259	0.89[AMR][1000 genomes]
rs72872285	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72874203	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72874204	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[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	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	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
rs72872300	ESRG	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54768400-54790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:54781200-54781600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:54781200-54781600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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