Variant report

Variant	rs609154
Chromosome Location	chr11:57696234-57696235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1113334	0.88[EUR][1000 genomes]
rs1113335	0.88[EUR][1000 genomes]
rs11601223	0.89[EUR][1000 genomes]
rs11601841	0.87[CEU][hapmap]
rs11602442	0.91[EUR][1000 genomes]
rs12419044	0.82[JPT][hapmap]
rs12419176	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12421773	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788836	0.96[EUR][1000 genomes]
rs12790525	0.96[CEU][hapmap]
rs12792638	0.88[EUR][1000 genomes]
rs12801976	0.89[EUR][1000 genomes]
rs12803905	0.90[EUR][1000 genomes]
rs1374570	0.82[CHB][hapmap]
rs1376489	0.96[CEU][hapmap];0.81[TSI][hapmap]
rs1397273	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17152376	0.87[CEU][hapmap]
rs1814059	0.87[CEU][hapmap]
rs2089747	0.88[EUR][1000 genomes]
rs2441952	0.81[CEU][hapmap];0.88[MEX][hapmap]
rs34015013	0.82[EUR][1000 genomes]
rs34563263	0.96[EUR][1000 genomes]
rs34594669	0.96[EUR][1000 genomes]
rs35163247	0.84[EUR][1000 genomes]
rs35713433	0.94[EUR][1000 genomes]
rs35742790	0.82[EUR][1000 genomes]
rs4509781	0.91[CEU][hapmap]
rs56055377	0.94[EUR][1000 genomes]
rs61905309	0.89[EUR][1000 genomes]
rs66813766	0.96[EUR][1000 genomes]
rs7109912	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7113760	0.91[CEU][hapmap]
rs7121128	0.88[EUR][1000 genomes]
rs7123570	0.94[EUR][1000 genomes]
rs7126334	0.91[EUR][1000 genomes]
rs714942	0.96[EUR][1000 genomes]
rs7926878	0.90[EUR][1000 genomes]
rs7930102	0.96[CEU][hapmap];0.81[TSI][hapmap]
rs7930234	0.91[EUR][1000 genomes]
rs7935428	0.87[CEU][hapmap]
rs7936212	0.91[EUR][1000 genomes]
rs7950003	0.84[EUR][1000 genomes]
rs938011	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs609154	YPEL4	cis	multi-tissue	Pritchard
rs609154	OR5M8	cis	cerebellum	SCAN
rs609154	DDB1	cis	cerebellum	SCAN
rs609154	UBE2L6	cis	parietal	SCAN
rs609154	MS4A7	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57695800-57696800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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