Variant report

Variant	rs11690813
Chromosome Location	chr2:56208159-56208160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1017371	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10194204	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10194401	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10200414	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10206522	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10206619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891825	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11893449	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11903947	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11904173	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713312	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13029542	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13398053	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13410155	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13431392	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13432828	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1432553	0.83[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1835897	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2009613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs34561537	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4999828	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6545535	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6545536	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6545537	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6545538	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6724635	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6724872	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6745615	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6756818	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7557630	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7601814	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11690813	C2orf63	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56194000-56216200	Weak transcription	Pancreas	Pancrea
2	chr2:56195800-56208600	Weak transcription	HUVEC	blood vessel
3	chr2:56207800-56208200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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