Variant report

Variant	rs10233389
Chromosome Location	chr7:50914953-50914954
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10226465	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs10230084	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs10234720	0.95[EUR][1000 genomes]
rs10242300	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10250894	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10264737	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs10267953	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10282345	0.87[EUR][1000 genomes]
rs11982715	0.90[AFR][1000 genomes]
rs12531949	0.90[AFR][1000 genomes]
rs12718959	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs12718961	0.95[EUR][1000 genomes]
rs17151260	0.90[AFR][1000 genomes]
rs17454517	1.00[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs17454681	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17564264	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1862946	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1862948	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28626771	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4947477	0.96[ASN][1000 genomes]
rs4947478	0.96[ASN][1000 genomes]
rs4947936	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4947937	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4947938	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4947939	0.87[EUR][1000 genomes]
rs4947945	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55988746	0.85[AFR][1000 genomes]
rs62447624	0.83[AFR][1000 genomes]
rs6976298	0.87[EUR][1000 genomes]
rs7350021	0.90[EUR][1000 genomes]
rs7357209	0.87[EUR][1000 genomes]
rs7781924	0.94[EUR][1000 genomes]
rs7802799	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9656704	0.91[EUR][1000 genomes];0.99[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10233389	VWC2	cis	cerebellum	SCAN
rs10233389	SEC61G	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50907200-50916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:50911400-50925600	Weak transcription	Pancreas	Pancrea

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