Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10090113	0.81[EUR][1000 genomes]
rs10097151	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10100538	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11784703	0.83[EUR][1000 genomes]
rs13271231	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477953	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1477958	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1551909	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2889303	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3892	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873253	0.86[EUR][1000 genomes]
rs4873254	0.86[EUR][1000 genomes]
rs4873751	0.84[EUR][1000 genomes]
rs4873752	0.86[EUR][1000 genomes]
rs4873753	0.86[EUR][1000 genomes]
rs4873754	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6991456	0.88[ASN][1000 genomes]
rs6995863	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7003777	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7013700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643478	0.86[ASN][1000 genomes]
rs9657156	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9657157	0.86[ASN][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
rs1531520	RP11-1081M5.1	cis	Artery Aorta	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54409600-54426600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:54410000-54416200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:54410200-54421600	Weak transcription	Ovary	ovary
4	chr8:54411800-54433400	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:54412800-54416400	Weak transcription	Left Ventricle	heart
6	chr8:54413200-54421400	Weak transcription	Aorta	Aorta
7	chr8:54414800-54416200	Enhancers	Right Ventricle	heart
8	chr8:54415200-54416000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:54415600-54416000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:54415600-54418600	Weak transcription	Fetal Heart	heart
11	chr8:54415800-54416200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:54415800-54417000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:54415800-54417000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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