Variant report

Variant	rs308921
Chromosome Location	chr2:86877271-86877272
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1005834	0.80[JPT][hapmap];0.82[MEX][hapmap]
rs10165914	0.91[ASN][1000 genomes]
rs10178968	0.91[ASN][1000 genomes]
rs10184617	0.88[ASN][1000 genomes]
rs10186663	0.81[CEU][hapmap]
rs10197478	0.91[ASN][1000 genomes]
rs10206802	0.91[ASN][1000 genomes]
rs11127049	0.89[ASN][1000 genomes]
rs12613610	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12623395	0.80[JPT][hapmap]
rs12988718	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13407663	0.91[ASN][1000 genomes]
rs1370452	0.91[ASN][1000 genomes]
rs1878109	0.81[CEU][hapmap]
rs2063848	0.81[CEU][hapmap]
rs2138396	0.81[CEU][hapmap]
rs2138397	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs2887012	0.81[CEU][hapmap]
rs308920	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36100635	0.86[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.86[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.87[ASN][1000 genomes]
rs4832047	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832048	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4832306	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832311	0.81[CEU][hapmap]
rs59818518	0.86[ASN][1000 genomes]
rs6547701	0.91[ASN][1000 genomes]
rs6711700	0.80[ASN][1000 genomes]
rs6731890	0.81[CEU][hapmap]
rs72934456	0.91[ASN][1000 genomes]
rs72934463	0.89[ASN][1000 genomes]
rs72934466	0.91[ASN][1000 genomes]
rs7558827	0.80[CHB][hapmap]
rs7564251	0.91[ASN][1000 genomes]
rs9309636	0.81[CEU][hapmap]
rs9309637	0.81[CEU][hapmap]
rs9309638	0.81[CEU][hapmap]
rs9808243	0.91[ASN][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	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs308921	SEC22A	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86877200-86877800	Active TSS	Liver	Liver

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