Variant report

Variant	rs244495
Chromosome Location	chr5:52048849-52048850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10805442	0.81[EUR][1000 genomes]
rs11957366	0.81[EUR][1000 genomes]
rs12332623	0.85[ASN][1000 genomes]
rs1626287	0.88[ASN][1000 genomes]
rs1645392	0.81[EUR][1000 genomes]
rs1645393	0.88[ASN][1000 genomes]
rs1645394	0.88[ASN][1000 genomes]
rs164611	0.85[ASN][1000 genomes]
rs164612	0.85[ASN][1000 genomes]
rs164649	0.81[EUR][1000 genomes]
rs164650	0.81[EUR][1000 genomes]
rs164652	0.81[EUR][1000 genomes]
rs164655	0.81[EUR][1000 genomes]
rs1668506	0.88[ASN][1000 genomes]
rs244481	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs244491	0.94[ASN][1000 genomes]
rs244493	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs29976	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs29977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs29980	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs29982	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351900	0.81[EUR][1000 genomes]
rs351922	0.81[EUR][1000 genomes]
rs351924	0.81[EUR][1000 genomes]
rs351925	0.81[EUR][1000 genomes]
rs351933	0.87[ASN][1000 genomes]
rs351937	0.87[ASN][1000 genomes]
rs351940	0.85[ASN][1000 genomes]
rs352363	0.81[EUR][1000 genomes]
rs352364	0.81[EUR][1000 genomes]
rs352365	0.81[EUR][1000 genomes]
rs39811	0.82[ASN][1000 genomes]
rs599698	0.86[ASN][1000 genomes]
rs651393	0.85[ASN][1000 genomes]
rs657796	0.86[ASN][1000 genomes]
rs658771	0.86[ASN][1000 genomes]
rs664248	0.84[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	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1027410	chr5:52022713-52103360	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs244495	LY86AS	trans	cerebellum	SCAN
rs244495	PPAP2A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52047800-52049000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:52048000-52052400	Weak transcription	Hela-S3	cervix

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