Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10090113	0.85[EUR][1000 genomes]
rs10100538	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784703	0.84[EUR][1000 genomes]
rs13271231	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1477953	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1477958	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1531520	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1551909	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2889303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3892	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873253	0.88[EUR][1000 genomes]
rs4873254	0.86[EUR][1000 genomes]
rs4873751	0.85[EUR][1000 genomes]
rs4873752	0.86[EUR][1000 genomes]
rs4873753	0.86[EUR][1000 genomes]
rs4873754	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4873755	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6995863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003777	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013700	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9657156	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10097151	RP11-1081M5.1	cis	Artery Aorta	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54399200-54408200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:54401000-54412600	Weak transcription	Aorta	Aorta
3	chr8:54404800-54410200	Enhancers	Fetal Heart	heart
4	chr8:54405000-54408600	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:54405400-54409200	Weak transcription	Lung	lung
6	chr8:54405400-54409400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:54406600-54410000	Enhancers	Fetal Muscle Leg	muscle
8	chr8:54406800-54410200	Enhancers	Right Ventricle	heart
9	chr8:54407400-54408200	Enhancers	Ovary	ovary
10	chr8:54407400-54409200	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:54407400-54409600	Enhancers	Right Atrium	heart
12	chr8:54407400-54410200	Enhancers	Left Ventricle	heart
13	chr8:54407600-54408400	Enhancers	Stomach Smooth Muscle	stomach
14	chr8:54407600-54409200	Enhancers	Fetal Stomach	stomach
15	chr8:54407800-54409000	Weak transcription	K562	blood
16	chr8:54408000-54408200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:54408000-54408400	Enhancers	Fetal Lung	lung
18	chr8:54408000-54408600	Enhancers	Brain Germinal Matrix	brain
19	chr8:54408000-54409600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:54408000-54409800	Enhancers	Duodenum Smooth Muscle	Duodenum

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