Variant report

Variant	rs11713694
Chromosome Location	chr3:48833615-48833616
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	EP300	chr3:48833535-48833751	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
PRKAR2A	TF binding region

Extended variants
information (count: 150 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs1048940	0.84[CEU][hapmap]
rs10780033	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11130176	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1134591	0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11705737	0.87[ASN][1000 genomes]
rs11706052	0.85[AMR][1000 genomes]
rs11706983	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap]
rs11708022	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11708786	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes]
rs11709092	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11709246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11712006	0.85[AMR][1000 genomes]
rs11712982	0.90[ASN][1000 genomes]
rs11715177	0.84[AMR][1000 genomes]
rs11715689	0.96[AMR][1000 genomes]
rs11715713	0.96[AMR][1000 genomes]
rs11715835	1.00[AMR][1000 genomes]
rs11716614	0.92[CEU][hapmap]
rs11717978	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11718982	0.85[AMR][1000 genomes]
rs11719291	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap]
rs11719457	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11920534	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11924597	0.90[ASN][1000 genomes]
rs11928552	0.87[CHD][hapmap]
rs12107252	0.83[GIH][hapmap]
rs12107418	0.83[GIH][hapmap]
rs12493289	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12493578	1.00[CHD][hapmap]
rs12497850	1.00[CHD][hapmap]
rs13063223	0.84[AMR][1000 genomes]
rs13063312	0.83[GIH][hapmap]
rs13064911	0.92[ASN][1000 genomes]
rs13070798	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs13072554	0.85[AMR][1000 genomes]
rs13072911	0.87[ASN][1000 genomes]
rs13073997	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13074318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13080725	0.85[AMR][1000 genomes]
rs13084000	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13086240	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13087930	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13090839	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13092715	1.00[JPT][hapmap]
rs13094900	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13315711	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13324142	0.83[GIH][hapmap]
rs13324950	0.84[AMR][1000 genomes]
rs13434258	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap]
rs1352420	1.00[CHD][hapmap]
rs17080289	0.83[GIH][hapmap]
rs17080319	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2276850	0.83[GIH][hapmap]
rs2276852	0.83[GIH][hapmap]
rs2286652	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs2310996	0.83[GIH][hapmap]
rs28642807	0.97[ASN][1000 genomes]
rs28793701	0.84[AMR][1000 genomes]
rs34037363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34477108	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34504524	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34509487	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34580506	0.85[AMR][1000 genomes]
rs35064573	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap]
rs35102816	0.85[AMR][1000 genomes]
rs35108630	0.85[AMR][1000 genomes]
rs35283189	0.85[AMR][1000 genomes]
rs3774628	1.00[JPT][hapmap]
rs3821876	0.83[GIH][hapmap]
rs3923475	0.85[AMR][1000 genomes]
rs4072859	0.84[ASN][1000 genomes]
rs4077495	0.84[AMR][1000 genomes]
rs4858798	1.00[CHD][hapmap]
rs4858828	1.00[CHD][hapmap]
rs4858831	1.00[CHD][hapmap]
rs4974078	0.87[CHD][hapmap];0.80[ASN][1000 genomes]
rs4974079	1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4974080	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4974082	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4974084	0.90[ASN][1000 genomes]
rs4974085	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4974087	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs55674449	0.85[ASN][1000 genomes]
rs55761431	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56318350	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56735597	0.84[AMR][1000 genomes]
rs61729488	0.85[AMR][1000 genomes]
rs6442130	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6446196	0.89[ASN][1000 genomes]
rs6446198	0.87[ASN][1000 genomes]
rs6446252	0.92[ASN][1000 genomes]
rs6446253	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs67060340	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67332931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6786665	0.87[ASN][1000 genomes]
rs6788650	1.00[CHD][hapmap]
rs6791234	0.87[ASN][1000 genomes]
rs6791542	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6792156	0.83[GIH][hapmap]
rs71324924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71324929	0.85[AMR][1000 genomes]
rs73078349	0.81[AMR][1000 genomes]
rs73078362	0.81[AMR][1000 genomes]
rs73080361	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7373778	1.00[ASN][1000 genomes]
rs740787	0.83[GIH][hapmap]
rs7430198	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7430501	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7431710	1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7431857	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7612459	0.83[ASN][1000 genomes]
rs7621015	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7623023	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7627404	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7628719	1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7631574	0.83[GIH][hapmap]
rs7639332	0.92[ASN][1000 genomes]
rs7643368	1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7647813	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7649458	1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs9311430	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9311432	0.92[ASN][1000 genomes]
rs9311433	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9311434	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9637481	1.00[JPT][hapmap]
rs9681717	0.97[ASN][1000 genomes]
rs9682444	0.87[CHD][hapmap];0.95[ASN][1000 genomes]
rs9754878	0.95[ASN][1000 genomes]
rs9755490	0.87[CHD][hapmap];0.97[ASN][1000 genomes]
rs9811027	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs9811318	0.83[GIH][hapmap]
rs9812200	0.83[GIH][hapmap]
rs9830581	0.83[GIH][hapmap]
rs9830636	0.92[ASN][1000 genomes]
rs9834996	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs9835307	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9836462	0.83[GIH][hapmap]
rs9840684	0.92[ASN][1000 genomes]
rs9841602	0.83[GIH][hapmap]
rs9843316	0.83[GIH][hapmap]
rs9850134	1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9867373	0.87[ASN][1000 genomes]
rs9876848	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9877542	0.84[AMR][1000 genomes]
rs9877685	0.84[AMR][1000 genomes]
rs9879971	0.92[ASN][1000 genomes]
rs9882549	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes]
rs9884022	1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs11713694	WDR6	cis	cerebellum	SCAN
rs11713694	WDR6	cis	parietal	SCAN
rs11713694	CCDC71	cis	cerebellum	SCAN
rs11713694	CSPG5	cis	parietal	SCAN
rs11713694	ALAS1	cis	cerebellum	SCAN
rs11713694	ARIH2	cis	cerebellum	SCAN
rs11713694	C3orf62	cis	cerebellum	SCAN
rs11713694	RNF123	cis	parietal	SCAN
rs11713694	LRRC2	cis	cerebellum	SCAN
rs11713694	WDR6	cis	Whole Blood	GTEx
rs11713694	KBTBD3	trans	parietal	SCAN
rs11713694	USP4	Cis_1M	lymphoblastoid	RTeQTL
rs11713694	HEMK1	cis	parietal	SCAN
rs11713694	WDR6	cis	Artery Tibial	GTEx
rs11713694	WDR6	cis	Adipose Subcutaneous	GTEx
rs11713694	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs11713694	NICN1	cis	cerebellum	SCAN
rs11713694	WDR6	cis	Esophagus Mucosa	GTEx
rs11713694	CCDC36	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48778200-48836600	Weak transcription	A549	lung
2	chr3:48789400-48844000	Weak transcription	Fetal Lung	lung
3	chr3:48809000-48849400	Weak transcription	GM12878-XiMat	blood
4	chr3:48810000-48882800	Weak transcription	Fetal Brain Female	brain
5	chr3:48810400-48848600	Weak transcription	Brain Anterior Caudate	brain
6	chr3:48810600-48835000	Weak transcription	HUVEC	blood vessel
7	chr3:48810600-48842600	Weak transcription	Pancreas	Pancrea
8	chr3:48810800-48836600	Weak transcription	Hela-S3	cervix
9	chr3:48820400-48868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:48820600-48836200	Weak transcription	Fetal Kidney	kidney
11	chr3:48820600-48840200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:48820600-48882800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:48820800-48843200	Weak transcription	Right Ventricle	heart
14	chr3:48820800-48847200	Weak transcription	NHDF-Ad	bronchial
15	chr3:48821000-48840600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:48821000-48849000	Weak transcription	NHLF	lung
17	chr3:48821000-48858000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:48821000-48858200	Weak transcription	Gastric	stomach
19	chr3:48822200-48843600	Weak transcription	Fetal Intestine Large	intestine
20	chr3:48822200-48855800	Weak transcription	Lung	lung
21	chr3:48822400-48833800	Weak transcription	Brain Substantia Nigra	brain
22	chr3:48822400-48848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:48822400-48857800	Weak transcription	NHEK	skin
24	chr3:48822400-48858200	Weak transcription	HSMMtube	muscle
25	chr3:48824000-48842800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:48825600-48836400	Weak transcription	Liver	Liver
27	chr3:48825800-48837800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:48826400-48868400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:48826600-48842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:48826800-48833800	Weak transcription	K562	blood
31	chr3:48826800-48841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:48826800-48842000	Weak transcription	Aorta	Aorta
33	chr3:48826800-48842400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:48826800-48847200	Weak transcription	Primary T cells from cord blood	blood
35	chr3:48826800-48847200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:48826800-48847200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr3:48826800-48847200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:48826800-48847600	Weak transcription	Brain Germinal Matrix	brain
39	chr3:48826800-48848800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:48826800-48858200	Weak transcription	Brain Angular Gyrus	brain
41	chr3:48826800-48869600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr3:48826800-48882800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr3:48827000-48847200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:48827000-48847200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:48827000-48848800	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:48827000-48850600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:48827400-48834400	Weak transcription	Primary B cells from cord blood	blood
48	chr3:48827600-48845200	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:48827600-48850200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:48827800-48835200	Weak transcription	Rectal Smooth Muscle	rectum

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