Variant report

Variant	rs4691430
Chromosome Location	chr4:158610621-158610622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11100119	0.93[ASN][1000 genomes]
rs11100121	0.99[ASN][1000 genomes]
rs11734795	0.93[ASN][1000 genomes]
rs11934695	0.94[ASN][1000 genomes]
rs12502036	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510026	0.81[ASN][1000 genomes]
rs12648940	0.99[ASN][1000 genomes]
rs13103702	0.99[ASN][1000 genomes]
rs13129289	0.81[ASN][1000 genomes]
rs1352694	0.88[ASN][1000 genomes]
rs1473501	0.84[ASN][1000 genomes]
rs1490531	0.99[ASN][1000 genomes]
rs1532149	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1532150	0.84[ASN][1000 genomes]
rs1844644	0.84[ASN][1000 genomes]
rs2172016	0.84[ASN][1000 genomes]
rs4484348	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4512050	0.93[ASN][1000 genomes]
rs4691429	0.85[ASN][1000 genomes]
rs6536271	0.82[JPT][hapmap]
rs6839727	0.93[ASN][1000 genomes]
rs756334	0.82[JPT][hapmap]
rs7655036	0.84[ASN][1000 genomes]
rs9307971	0.88[ASN][1000 genomes]
rs964774	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020294	chr4:157722712-158691771	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv537313	chr4:157722712-158691771	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1018387	chr4:157959931-158764190	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4691430	GUCY1B3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158609800-158611200	Enhancers	Fetal Brain Male	brain

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