Variant report

Variant	rs685149
Chromosome Location	chr11:57657413-57657414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57651734..57654571-chr11:57656022..57657939,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10896647	0.82[ASN][1000 genomes]
rs11229148	0.82[ASN][1000 genomes]
rs11570190	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap]
rs11601320	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs11605731	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs11607056	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap]
rs12804972	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12807250	1.00[CHB][hapmap]
rs12807357	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1647405	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap]
rs2509808	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2847308	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap]
rs576859	0.83[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.81[MEX][hapmap]
rs589914	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631791	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs644883	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6591434	0.87[ASN][1000 genomes]
rs674094	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs682503	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs708228	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap];0.82[ASN][1000 genomes]
rs7117205	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap];0.89[ASN][1000 genomes]
rs71484468	0.87[ASN][1000 genomes]
rs7932091	0.82[ASN][1000 genomes]
rs7936998	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap];0.87[ASN][1000 genomes]
rs9420	0.89[CHB][hapmap];1.00[CHD][hapmap]

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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs685149	CD5	cis	parietal	SCAN
rs685149	ZDHHC5	cis	multi-tissue	Pritchard
rs685149	TIMM10	cis	multi-tissue	Pritchard
rs685149	OR5AK2	cis	temporal cortex	BrainEAC
rs685149	TMEM109	cis	cerebellum	SCAN
rs685149	YPEL4	cis	multi-tissue	Pritchard
rs685149	OR4D10	cis	parietal	SCAN
rs685149	MED19	Cis_1M	lymphoblastoid	RTeQTL
rs685149	MED19	cis	multi-tissue	Pritchard
rs685149	MED19	cis	cerebellum	SCAN
rs685149	OR5J2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57653600-57658000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:57656200-57658000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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