Variant report

Variant	rs11656046
Chromosome Location	chr17:15958014-15958015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10451230	0.81[EUR][1000 genomes]
rs1045599	0.89[EUR][1000 genomes]
rs1065822	0.85[EUR][1000 genomes]
rs1075901	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1079533	0.85[EUR][1000 genomes]
rs11078320	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11078327	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078328	0.85[EUR][1000 genomes]
rs11078330	0.84[EUR][1000 genomes]
rs11078331	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1125156	0.83[EUR][1000 genomes]
rs11651290	0.85[EUR][1000 genomes]
rs11651508	0.81[EUR][1000 genomes]
rs11652025	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11654	0.89[EUR][1000 genomes]
rs11655456	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11657160	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11657912	0.85[EUR][1000 genomes]
rs11658564	0.83[EUR][1000 genomes]
rs11869450	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11869563	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11870608	0.83[EUR][1000 genomes]
rs12451075	0.84[EUR][1000 genomes]
rs12942295	0.85[EUR][1000 genomes]
rs12945463	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12945546	0.85[EUR][1000 genomes]
rs12947205	0.82[EUR][1000 genomes]
rs12948361	0.82[EUR][1000 genomes]
rs1860644	0.81[EUR][1000 genomes]
rs1860645	0.81[EUR][1000 genomes]
rs2041459	0.82[EUR][1000 genomes]
rs2041460	0.82[EUR][1000 genomes]
rs2051736	0.83[EUR][1000 genomes]
rs2078050	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2109632	0.87[EUR][1000 genomes]
rs2157990	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157991	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157992	0.85[EUR][1000 genomes]
rs2159643	0.87[EUR][1000 genomes]
rs2285579	0.81[EUR][1000 genomes]
rs2285580	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2285582	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285583	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2286795	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2286796	0.91[EUR][1000 genomes]
rs2324084	0.82[EUR][1000 genomes]
rs2324141	0.82[EUR][1000 genomes]
rs2324142	0.81[EUR][1000 genomes]
rs2535614	0.86[EUR][1000 genomes]
rs2779207	0.89[EUR][1000 genomes]
rs2779208	0.90[EUR][1000 genomes]
rs2779210	0.82[EUR][1000 genomes]
rs2779212	0.88[EUR][1000 genomes]
rs2875265	0.81[EUR][1000 genomes]
rs35168566	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3760293	0.81[EUR][1000 genomes]
rs3760297	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3760298	0.81[EUR][1000 genomes]
rs3785628	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3785629	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785631	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3785632	0.84[EUR][1000 genomes]
rs3785633	0.84[EUR][1000 genomes]
rs3815038	0.85[EUR][1000 genomes]
rs3815039	0.85[EUR][1000 genomes]
rs3826360	0.83[EUR][1000 genomes]
rs4435297	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4566208	0.83[EUR][1000 genomes]
rs4791660	0.84[EUR][1000 genomes]
rs4792707	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4792708	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4792709	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4792711	0.82[EUR][1000 genomes]
rs4792712	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4792713	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4792715	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4792716	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4792717	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4792718	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4792719	0.85[EUR][1000 genomes]
rs4792721	0.81[EUR][1000 genomes]
rs6416868	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6502479	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6502480	0.90[EUR][1000 genomes]
rs6502482	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6502488	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6502491	0.81[EUR][1000 genomes]
rs7207463	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7209094	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7210655	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7214695	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7214891	0.82[EUR][1000 genomes]
rs7216949	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7222886	0.85[EUR][1000 genomes]
rs7223346	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72833498	0.80[EUR][1000 genomes]
rs758853	0.82[EUR][1000 genomes]
rs8064702	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8065190	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8070859	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8075345	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8076669	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8076864	0.85[EUR][1000 genomes]
rs8079969	0.81[EUR][1000 genomes]
rs8080221	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8080706	0.83[EUR][1000 genomes]
rs8081406	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8081667	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9652827	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652828	0.85[EUR][1000 genomes]
rs9709250	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889822	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9890012	0.86[EUR][1000 genomes]
rs9891379	0.85[EUR][1000 genomes]
rs9891938	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9896441	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9897388	0.81[EUR][1000 genomes]
rs9897542	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9898313	0.84[EUR][1000 genomes]
rs9899002	0.84[EUR][1000 genomes]
rs9899995	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9905429	0.84[EUR][1000 genomes]
rs9907273	0.85[EUR][1000 genomes]
rs9908031	0.86[EUR][1000 genomes]
rs9909615	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9916868	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
9	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv833377	chr17:15912013-16104515	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	esv1792054	chr17:15934025-16010920	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11656046	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs11656046	ADORA2B	cis	Nerve Tibial	GTEx
rs11656046	ADORA2B	cis	Esophagus Muscularis	GTEx
rs11656046	ADORA2B	cis	lung	GTEx
rs11656046	ADORA2B	cis	Thyroid	GTEx
rs11656046	ZSWIM7	cis	Muscle Skeletal	GTEx
rs11656046	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs11656046	ADORA2B	cis	Artery Tibial	GTEx
rs11656046	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs11656046	CENPV	cis	Artery Tibial	GTEx
rs11656046	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs11656046	ADORA2B	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15905200-15986400	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr17:15913800-15990800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:15915400-15998000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:15921000-15991000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr17:15921000-15991200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr17:15923800-15998000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:15926800-15985400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:15926800-15987600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr17:15927200-15976400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr17:15927800-15971600	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:15927800-15987800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:15931800-15988800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr17:15932800-15969200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:15940000-15980600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr17:15942000-15985000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:15943000-15965200	Weak transcription	Small Intestine	intestine
17	chr17:15944800-15991000	Strong transcription	Fetal Intestine Large	intestine
18	chr17:15948200-15975200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:15948200-15978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:15949400-15966800	Weak transcription	Psoas Muscle	Psoas
21	chr17:15949600-15960800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr17:15950200-15964600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:15950400-15963400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr17:15950400-15963400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr17:15950600-15964800	Weak transcription	Stomach Mucosa	stomach
26	chr17:15951200-15969200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:15951800-15958800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:15951800-15964600	Weak transcription	K562	blood
29	chr17:15951800-15966000	Weak transcription	Fetal Heart	heart
30	chr17:15952200-15959000	Weak transcription	HSMM	muscle
31	chr17:15952400-15958200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:15952400-15958400	Weak transcription	Brain Substantia Nigra	brain
33	chr17:15952400-15959000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr17:15952400-15959000	Weak transcription	HMEC	breast
35	chr17:15952400-15960400	Weak transcription	Fetal Brain Male	brain
36	chr17:15952400-15960600	Weak transcription	Brain Angular Gyrus	brain
37	chr17:15952400-15960800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr17:15952400-15963000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr17:15952400-15964800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr17:15952600-15958800	Weak transcription	Osteobl	bone
41	chr17:15952600-15959200	Weak transcription	Pancreas	Pancrea
42	chr17:15952600-15959400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr17:15952600-15959600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:15952600-15960800	Weak transcription	Right Ventricle	heart
45	chr17:15952600-15963000	Weak transcription	Gastric	stomach
46	chr17:15952600-15964400	Weak transcription	NHEK	skin
47	chr17:15952800-15958400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr17:15952800-15958400	Weak transcription	GM12878-XiMat	blood
49	chr17:15952800-15958600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:15952800-15959000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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