Variant report

Variant	rs8108693
Chromosome Location	chr19:52761654-52761655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10407427	0.92[ASN][1000 genomes]
rs10413108	0.92[ASN][1000 genomes]
rs10416373	0.92[ASN][1000 genomes]
rs10417447	0.92[ASN][1000 genomes]
rs10424714	0.85[ASN][1000 genomes]
rs13343453	0.92[ASN][1000 genomes]
rs16983619	0.92[ASN][1000 genomes]
rs16983638	0.92[ASN][1000 genomes]
rs16983643	0.92[ASN][1000 genomes]
rs16983648	0.92[ASN][1000 genomes]
rs2059808	0.92[ASN][1000 genomes]
rs4327163	0.92[ASN][1000 genomes]
rs55716802	0.92[ASN][1000 genomes]
rs57370252	0.92[ASN][1000 genomes]
rs60307688	0.92[ASN][1000 genomes]
rs60998301	0.92[ASN][1000 genomes]
rs62109258	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62110361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110362	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509629	0.92[ASN][1000 genomes]
rs7249557	1.00[ASN][1000 genomes]
rs7250109	0.92[ASN][1000 genomes]
rs73935058	0.92[ASN][1000 genomes]
rs8101776	0.92[ASN][1000 genomes]
rs8108037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv3441119	chr19:52756399-52762539	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8108693	ZNF8	cis	cerebellum	SCAN
rs8108693	MGC2752	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52758600-52772200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr19:52761400-52761800	Enhancers	HepG2	liver

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