Variant report

Variant	rs12294719
Chromosome Location	chr11:36728261-36728262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10501159	1.00[JPT][hapmap]
rs10501160	1.00[JPT][hapmap]
rs10836580	1.00[JPT][hapmap]
rs10836581	1.00[JPT][hapmap]
rs11033708	1.00[JPT][hapmap]
rs11033712	1.00[JPT][hapmap]
rs11033723	0.97[EUR][1000 genomes]
rs11033725	1.00[JPT][hapmap]
rs11033727	1.00[JPT][hapmap]
rs11033749	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11033750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033751	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11033752	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822918	1.00[JPT][hapmap]
rs12279449	1.00[JPT][hapmap]
rs12287855	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292943	1.00[JPT][hapmap]
rs12293987	1.00[JPT][hapmap]
rs12295400	1.00[JPT][hapmap]
rs12416842	1.00[JPT][hapmap]
rs12417057	1.00[JPT][hapmap]
rs12417768	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12417778	1.00[JPT][hapmap]
rs12417783	1.00[JPT][hapmap]
rs12420509	1.00[JPT][hapmap]
rs12420930	1.00[JPT][hapmap]
rs12420954	1.00[JPT][hapmap]
rs12421512	1.00[JPT][hapmap]
rs12421641	1.00[JPT][hapmap]
rs1391542	1.00[JPT][hapmap]
rs1391543	1.00[JPT][hapmap]
rs1399600	1.00[JPT][hapmap]
rs1515057	1.00[JPT][hapmap]
rs1533588	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16929067	1.00[JPT][hapmap]
rs16929071	1.00[JPT][hapmap]
rs16929076	1.00[JPT][hapmap]
rs16929136	1.00[JPT][hapmap]
rs16929145	1.00[JPT][hapmap]
rs16929147	1.00[JPT][hapmap]
rs16929149	1.00[JPT][hapmap]
rs16929170	1.00[JPT][hapmap]
rs16929178	1.00[JPT][hapmap]
rs16929182	1.00[JPT][hapmap]
rs16929194	1.00[JPT][hapmap]
rs16929197	1.00[JPT][hapmap]
rs16929201	1.00[JPT][hapmap]
rs16929204	1.00[JPT][hapmap]
rs16929227	1.00[JPT][hapmap]
rs16929247	1.00[JPT][hapmap]
rs16929249	1.00[JPT][hapmap]
rs16929265	1.00[JPT][hapmap]
rs2422297	1.00[JPT][hapmap]
rs332429	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs332430	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs332431	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs332432	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs332433	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs332434	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs332436	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs332437	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs332438	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3740957	1.00[JPT][hapmap]
rs7102864	1.00[JPT][hapmap]
rs7103064	1.00[JPT][hapmap]
rs7107464	1.00[JPT][hapmap]
rs7124815	1.00[JPT][hapmap]
rs7128419	1.00[JPT][hapmap]
rs7131496	1.00[JPT][hapmap]
rs7480202	1.00[JPT][hapmap]
rs7926684	1.00[JPT][hapmap]
rs7927358	1.00[JPT][hapmap]
rs7929473	1.00[JPT][hapmap]
rs7937683	1.00[JPT][hapmap]
rs7939136	1.00[JPT][hapmap]
rs7946993	1.00[JPT][hapmap]
rs867801	1.00[JPT][hapmap]
rs867804	1.00[JPT][hapmap]
rs868613	1.00[JPT][hapmap]
rs869206	1.00[JPT][hapmap]
rs885374	1.00[JPT][hapmap]
rs969611	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832123	chr11:36582872-36757443	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv467792	chr11:36624187-36898373	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv554005	chr11:36624187-36898373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv467793	chr11:36632515-37171833	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv554006	chr11:36632515-37171833	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1047073	chr11:36711638-36812910	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1041508	chr11:36711638-36815367	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1043391	chr11:36711638-36817144	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv554007	chr11:36711834-36825618	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12294719	PRR5L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36718400-36729000	Weak transcription	Fetal Stomach	stomach
2	chr11:36722200-36731000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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