Variant report

Variant	rs17158378
Chromosome Location	chr11:63239707-63239708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12419465	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17158337	0.81[EUR][1000 genomes]
rs17158357	0.92[EUR][1000 genomes]
rs17158380	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17728785	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2849652	0.89[EUR][1000 genomes]
rs55823811	0.81[EUR][1000 genomes]
rs56207718	0.81[EUR][1000 genomes]
rs57210597	0.96[EUR][1000 genomes]
rs60911257	0.85[EUR][1000 genomes]
rs61928056	0.81[EUR][1000 genomes]
rs61928058	0.81[EUR][1000 genomes]
rs61928059	0.81[EUR][1000 genomes]
rs61929661	0.81[EUR][1000 genomes]
rs61929666	0.81[EUR][1000 genomes]
rs61929668	0.89[EUR][1000 genomes]
rs61929669	0.92[EUR][1000 genomes]
rs61929693	0.96[EUR][1000 genomes]
rs61929695	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61929696	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61929697	0.93[EUR][1000 genomes]
rs66811727	0.81[EUR][1000 genomes]
rs67952179	0.81[EUR][1000 genomes]
rs7115686	0.96[EUR][1000 genomes]
rs7123815	1.00[EUR][1000 genomes]
rs72930139	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7944411	1.00[CEU][hapmap]
rs940611	1.00[CEU][hapmap]
rs9971506	1.00[CEU][hapmap];0.87[TSI][hapmap]

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	esv1822068	chr11:63146055-63239984	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv468588	chr11:63233363-63320239	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv555179	chr11:63233363-63320239	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv972926	chr11:63235663-63258845	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17158378	HOOK1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63227600-63246200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:63227800-63252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:63231200-63246200	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:63231600-63247400	Weak transcription	Pancreas	Pancrea
5	chr11:63234200-63244400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:63235000-63241800	Weak transcription	Stomach Smooth Muscle	stomach

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