Variant report

Variant	rs11682527
Chromosome Location	chr2:114425685-114425686
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr2:114425601-114425826	K562	blood:	n/a	chr2:114425700-114425711
2	USF1	chr2:114425634-114425775	HepG2	liver:	n/a	chr2:114425700-114425711

Variant related genes	Relation type
ENSG00000233479	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 27 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11677238	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11684486	0.85[EUR][1000 genomes]
rs11694651	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1597245	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1597246	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4849260	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4849261	0.86[EUR][1000 genomes]
rs55740782	0.81[AMR][1000 genomes];0.86[EUR][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	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv508163	chr2:114364609-114431004	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv961496	chr2:114416306-114428065	Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:27)

SNP	Gene	Cis/trans	Tissue	Source
rs11682527	DDX11L2	cis	Artery Aorta	GTEx
rs11682527	DDX11L2	cis	Heart Left Ventricle	GTEx
rs11682527	RPL23AP7	cis	Whole Blood	GTEx
rs11682527	RPL23AP7	cis	multi-tissue	Pritchard
rs11682527	RPL23AP7	cis	Esophagus Mucosa	GTEx
rs11682527	DDX11L2	cis	Whole Blood	GTEx
rs11682527	DDX11L2	cis	Esophagus Mucosa	GTEx
rs11682527	DDX11L2	cis	lung	GTEx
rs11682527	DDX11L2	cis	Muscle Skeletal	GTEx
rs11682527	DDX11L2	cis	Stomach	GTEx
rs11682527	RPL23AP7	cis	Esophagus Muscularis	GTEx
rs11682527	RP11-395L14.5	cis	Artery Tibial	GTEx
rs11682527	RP11-395L14.5	cis	Adipose Subcutaneous	GTEx
rs11682527	RPL23AP7	cis	lung	GTEx
rs11682527	RPL23AP7	cis	Muscle Skeletal	GTEx
rs11682527	DDX11L2	cis	Skin Sun Exposed Lower leg	GTEx
rs11682527	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs11682527	WASH2P	cis	Whole Blood	GTEx
rs11682527	DDX11L2	cis	Esophagus Muscularis	GTEx
rs11682527	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs11682527	DDX11L2	cis	Artery Tibial	GTEx
rs11682527	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL
rs11682527	RPL23AP7	cis	Adipose Subcutaneous	GTEx
rs11682527	RPL23AP7	cis	Artery Aorta	GTEx
rs11682527	RPL23AP7	cis	Artery Tibial	GTEx
rs11682527	DDX11L2	cis	Thyroid	GTEx
rs11682527	DDX11L2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114424800-114433400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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