Variant report

Variant	rs3744330
Chromosome Location	chr17:15774355-15774356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11651258	0.88[ASN][1000 genomes]
rs11654524	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11658370	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11658454	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11658871	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11870637	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12051835	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12603728	0.93[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.88[ASN][1000 genomes]
rs12603863	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1558409	0.90[AFR][1000 genomes]
rs1613538	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1639394	0.81[ASN][1000 genomes]
rs17776817	0.82[ASN][1000 genomes]
rs1797453	0.81[ASN][1000 genomes]
rs1797460	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1797462	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1889021	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2429742	0.81[ASN][1000 genomes]
rs2535598	0.81[ASN][1000 genomes]
rs2535599	0.81[ASN][1000 genomes]
rs2535609	0.90[JPT][hapmap]
rs2586557	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2787070	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28539408	0.81[ASN][1000 genomes]
rs35743185	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3744329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3859260	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925260	0.88[ASN][1000 genomes]
rs4297751	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4791642	0.88[ASN][1000 genomes]
rs4791653	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4792704	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4792705	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs481648	0.90[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.83[ASN][1000 genomes]
rs62071036	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62071037	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62071038	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62071042	0.81[ASN][1000 genomes]
rs62072029	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62072030	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs62072031	0.83[ASN][1000 genomes]
rs62072032	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs62072033	0.83[ASN][1000 genomes]
rs62072034	0.82[ASN][1000 genomes]
rs62072161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072162	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62072168	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62072173	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62072198	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62072201	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62072203	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62072205	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6502475	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs708590	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs708593	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7214215	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7218000	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7503620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8076401	0.82[ASN][1000 genomes]
rs8077025	0.81[ASN][1000 genomes]
rs8079686	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8080194	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs859226	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs859228	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs859230	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs859232	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs859233	0.84[EUR][1000 genomes]
rs859234	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs859236	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs859237	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs859238	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs859240	0.87[EUR][1000 genomes]
rs859247	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs859248	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs859252	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs859253	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs859255	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs859256	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs859257	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
10	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
11	nsv1993	chr17:15759198-15799029	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1796880	chr17:15764507-15793669	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv1806276	chr17:15764992-15794687	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3744330	ADORA2B	cis	parietal	SCAN
rs3744330	ADORA2B	cis	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15773200-15775000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:15773800-15774400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:15774000-15775400	Enhancers	Fetal Heart	heart
4	chr17:15774200-15774400	Enhancers	Fetal Stomach	stomach
5	chr17:15774200-15774600	Enhancers	Placenta	Placenta

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