Variant report

Variant	rs11686587
Chromosome Location	chr2:211175921-211175922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10179268	1.00[ASN][1000 genomes]
rs1155845	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11675027	1.00[ASN][1000 genomes]
rs11678206	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682370	1.00[ASN][1000 genomes]
rs11688180	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900095	0.97[EUR][1000 genomes]
rs12992714	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002602	1.00[ASN][1000 genomes]
rs13009071	1.00[ASN][1000 genomes]
rs13015487	0.97[EUR][1000 genomes]
rs13019613	1.00[ASN][1000 genomes]
rs13020232	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021055	1.00[ASN][1000 genomes]
rs13022638	0.97[EUR][1000 genomes]
rs13023313	0.97[EUR][1000 genomes]
rs13025700	1.00[CHB][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025911	0.94[EUR][1000 genomes]
rs13415601	1.00[CHB][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs1509568	1.00[CHB][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap]
rs1509570	1.00[ASN][1000 genomes]
rs1509571	1.00[CHB][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs1509572	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16844213	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs2048277	0.97[EUR][1000 genomes]
rs2160020	1.00[CHB][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs2539005	1.00[ASN][1000 genomes]
rs263668	1.00[ASN][1000 genomes]
rs263675	1.00[CHB][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs263680	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs263681	1.00[CHB][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs263686	1.00[ASN][1000 genomes]
rs34334556	1.00[ASN][1000 genomes]
rs34693593	0.97[EUR][1000 genomes]
rs35125543	1.00[ASN][1000 genomes]
rs36080651	1.00[ASN][1000 genomes]
rs3732057	1.00[CHB][hapmap]
rs62202972	1.00[ASN][1000 genomes]
rs6435561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714161	1.00[ASN][1000 genomes]
rs6716836	1.00[ASN][1000 genomes]
rs6732072	1.00[ASN][1000 genomes]
rs6732486	1.00[ASN][1000 genomes]
rs6732506	1.00[ASN][1000 genomes]
rs6735292	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749996	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs6760874	1.00[ASN][1000 genomes]
rs71350736	1.00[ASN][1000 genomes]
rs71350737	0.97[EUR][1000 genomes]
rs7557043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv834520	chr2:211101265-211257068	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1014508	chr2:211142855-211215068	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1010916	chr2:211147730-211205281	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11686587	PLEKHM3	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211171800-211180800	Active TSS	Fetal Muscle Leg	muscle
2	chr2:211173600-211181000	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr2:211174600-211179600	Weak transcription	Psoas Muscle	Psoas
4	chr2:211174600-211183000	Weak transcription	HSMMtube	muscle
5	chr2:211175400-211176600	Active TSS	Fetal Muscle Trunk	muscle
6	chr2:211175600-211181000	Active TSS	Skeletal Muscle Male	skeletal muscle

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