Variant report

Variant	rs631791
Chromosome Location	chr11:57675410-57675411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10792112	0.81[EUR][1000 genomes]
rs10896656	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896661	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896662	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229131	0.81[EUR][1000 genomes]
rs11229148	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11229160	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570190	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs11601320	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11605731	0.82[CEU][hapmap]
rs11607056	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs12360939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790660	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12798206	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807250	0.81[EUR][1000 genomes]
rs12807357	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1647405	0.82[CEU][hapmap];0.93[MEX][hapmap]
rs2509808	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2847308	0.82[CEU][hapmap];0.93[MEX][hapmap]
rs576859	0.82[CEU][hapmap];0.93[MEX][hapmap]
rs589914	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs641325	0.86[EUR][1000 genomes]
rs644883	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6591434	0.86[EUR][1000 genomes]
rs674094	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs682503	0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs685149	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs708228	0.82[CEU][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs7117205	0.82[CEU][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71484468	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7932091	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7936998	0.82[CEU][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9420	0.85[MEX][hapmap]
rs9645687	0.95[AMR][1000 genomes];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	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	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	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
6	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs631791	MED19	cis	cerebellum	SCAN
rs631791	YPEL4	cis	multi-tissue	Pritchard
rs631791	MS4A7	cis	parietal	SCAN
rs631791	TIMM10	cis	multi-tissue	Pritchard
rs631791	ZDHHC5	cis	multi-tissue	Pritchard
rs631791	PRG3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57671600-57678000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:57673400-57680400	Weak transcription	K562	blood

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