Variant report

Variant	rs4791642
Chromosome Location	chr17:15734795-15734796
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1054119	0.89[EUR][1000 genomes]
rs11651258	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654524	0.83[ASN][1000 genomes]
rs11658370	0.83[ASN][1000 genomes]
rs11867683	0.88[EUR][1000 genomes]
rs11870637	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12603728	0.93[CHB][hapmap];0.80[CHD][hapmap]
rs1971160	0.87[EUR][1000 genomes]
rs2586557	0.82[ASN][1000 genomes]
rs28539408	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744329	0.88[ASN][1000 genomes]
rs3744330	0.88[ASN][1000 genomes]
rs3859260	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3925260	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4792704	0.81[ASN][1000 genomes]
rs481648	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62070978	0.88[EUR][1000 genomes]
rs62070980	0.88[EUR][1000 genomes]
rs62070981	0.81[EUR][1000 genomes]
rs62071028	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62071036	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62071037	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62071038	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62072161	0.88[ASN][1000 genomes]
rs62072162	0.81[ASN][1000 genomes]
rs62072168	0.82[ASN][1000 genomes]
rs62072198	0.81[ASN][1000 genomes]
rs7214215	0.81[ASN][1000 genomes]
rs7503620	0.83[ASN][1000 genomes]
rs8079686	0.83[ASN][1000 genomes]
rs8080194	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv978371	chr17:15726145-15735621	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv962264	chr17:15726145-15784073	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4791642	ADORA2B	Cis_1M	lymphoblastoid	RTeQTL
rs4791642	ADORA2B	cis	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15732600-15734800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr17:15733200-15735000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:15733400-15734800	Enhancers	GM12878-XiMat	blood
4	chr17:15733600-15737800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr17:15734200-15734800	Enhancers	A549	lung
6	chr17:15734200-15735200	Enhancers	K562	blood
7	chr17:15734400-15735000	Enhancers	NHEK	skin
8	chr17:15734400-15736000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr17:15734400-15738200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:15734600-15734800	Enhancers	NHDF-Ad	bronchial
11	chr17:15734600-15735000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:15734600-15735000	Enhancers	HMEC	breast
13	chr17:15734600-15735000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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