Variant report

Variant	rs73691523
Chromosome Location	chr8:67239933-67239934
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16932810	0.93[EUR][1000 genomes]
rs28371959	0.83[EUR][1000 genomes]
rs28536124	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4324908	0.82[EUR][1000 genomes]
rs55804693	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56336230	0.90[EUR][1000 genomes]
rs6981785	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7001956	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7010677	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7011259	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7018347	0.83[EUR][1000 genomes]
rs7822867	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7839868	0.90[EUR][1000 genomes]
rs949987	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73691523	ADHFE1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67239600-67240200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67239800-67240000	Enhancers	Pancreas	Pancrea

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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