Variant report

Variant	rs337167
Chromosome Location	chr1:220901969-220901970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs11589296	0.83[EUR][1000 genomes]
rs12032280	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12407624	0.89[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs12563921	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12564479	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1472253	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1494373	0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs17008587	0.81[EUR][1000 genomes]
rs2275575	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs337163	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337166	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337168	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337174	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337188	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs337192	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3753879	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs3806329	0.90[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41314538	0.84[EUR][1000 genomes]
rs4846658	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59423796	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61830238	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72629673	0.83[EUR][1000 genomes]
rs774139	0.87[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs796486	0.81[EUR][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	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs337167	EPRS	cis	cerebellum	SCAN
rs337167	MOSC2	cis	cerebellum	SCAN
rs337167	C1orf115	cis	cerebellum	SCAN
rs337167	MOSC1	cis	parietal	SCAN
rs337167	C1orf115	cis	multi-tissue	Pritchard
rs337167	TGFB2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220901400-220905400	Weak transcription	Liver	Liver

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