Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17404672	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17405528	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2114487	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2433593	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2465983	0.81[AMR][1000 genomes]
rs2555563	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2555564	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2555567	0.81[AMR][1000 genomes]
rs2555576	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2555579	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2555589	0.81[AMR][1000 genomes]
rs2718989	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2718998	0.81[AMR][1000 genomes]
rs56256543	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57935379	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60331121	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62511170	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62511945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511947	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7015637	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73691528	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7834904	0.86[AFR][1000 genomes]
rs7835343	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62511944	ADHFE1	cis	Artery Tibial	GTEx
rs62511944	ADHFE1	cis	Esophagus Mucosa	GTEx
rs62511944	ADHFE1	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67277000-67288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67281200-67290200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:67281400-67290400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:67285000-67286200	Enhancers	Fetal Heart	heart

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