Variant report

Variant	rs8080706
Chromosome Location	chr17:15991560-15991561
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10491104	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1065822	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1075901	0.83[EUR][1000 genomes]
rs1079533	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10852833	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11078321	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078327	0.82[EUR][1000 genomes]
rs11078328	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078330	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078331	0.85[EUR][1000 genomes]
rs11078332	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1125156	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1126148	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1160109	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11650678	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11651290	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11651508	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11652025	0.84[EUR][1000 genomes]
rs11655773	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11656046	0.83[EUR][1000 genomes]
rs11657160	0.83[EUR][1000 genomes]
rs11657912	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11868809	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11871961	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11872032	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12150017	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12449895	0.83[EUR][1000 genomes]
rs12451075	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12942295	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12945546	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12947205	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12948361	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs178657	0.81[EUR][1000 genomes]
rs178658	0.81[EUR][1000 genomes]
rs178659	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs178662	0.83[AMR][1000 genomes]
rs178791	0.82[AMR][1000 genomes]
rs178792	0.82[AMR][1000 genomes]
rs178793	0.81[AMR][1000 genomes]
rs178796	0.82[AMR][1000 genomes]
rs178798	0.83[AMR][1000 genomes]
rs178800	0.86[AMR][1000 genomes]
rs178801	0.80[AMR][1000 genomes]
rs178805	0.87[AMR][1000 genomes]
rs178816	0.81[AMR][1000 genomes]
rs178820	0.81[AMR][1000 genomes]
rs178829	0.81[AMR][1000 genomes]
rs178834	0.87[AMR][1000 genomes]
rs1972503	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1989856	0.83[EUR][1000 genomes]
rs2015353	0.88[EUR][1000 genomes]
rs2041459	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2041460	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2051736	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078050	0.85[EUR][1000 genomes]
rs2157990	0.83[EUR][1000 genomes]
rs2157991	0.83[EUR][1000 genomes]
rs2157992	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2285582	0.83[EUR][1000 genomes]
rs2285583	0.81[EUR][1000 genomes]
rs2324084	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2779211	0.89[EUR][1000 genomes]
rs34236618	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35160872	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35168566	0.83[EUR][1000 genomes]
rs35799415	0.81[AMR][1000 genomes]
rs36001065	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3760298	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3785628	0.83[EUR][1000 genomes]
rs3785631	0.96[EUR][1000 genomes]
rs3785633	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3815038	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3815039	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3826360	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4239134	0.91[EUR][1000 genomes]
rs4435297	0.80[EUR][1000 genomes]
rs4791660	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4791661	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4791662	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4792711	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4792716	0.83[EUR][1000 genomes]
rs4792717	0.83[EUR][1000 genomes]
rs4792718	0.81[EUR][1000 genomes]
rs4792719	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs545738	0.80[AMR][1000 genomes]
rs55676330	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62073587	0.82[EUR][1000 genomes]
rs6502482	0.81[EUR][1000 genomes]
rs6502488	0.83[EUR][1000 genomes]
rs7207889	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7214891	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7216834	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7217614	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7223346	0.86[EUR][1000 genomes]
rs72833498	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs758853	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8064702	0.85[EUR][1000 genomes]
rs8065190	0.83[EUR][1000 genomes]
rs8076669	0.81[EUR][1000 genomes]
rs8076864	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8080221	0.81[EUR][1000 genomes]
rs8081406	0.82[EUR][1000 genomes]
rs8081667	0.83[EUR][1000 genomes]
rs9652827	0.83[EUR][1000 genomes]
rs9652828	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9709250	0.83[EUR][1000 genomes]
rs9889745	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9889822	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9890012	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9891379	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9891646	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9896441	0.85[EUR][1000 genomes]
rs9898313	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9899002	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9902141	0.83[EUR][1000 genomes]
rs9903464	0.81[EUR][1000 genomes]
rs9905429	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9907313	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9908031	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9909615	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9909697	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9916868	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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
16	esv1802470	chr17:15976558-16004368	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv907711	chr17:15978663-16092902	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv907712	chr17:15981874-16103426	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv907713	chr17:15981874-16127206	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	nsv907714	chr17:15990013-16110384	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs8080706	ADORA2B	cis	Artery Tibial	GTEx
rs8080706	ADORA2B	cis	Nerve Tibial	GTEx
rs8080706	ZSWIM7	cis	Muscle Skeletal	GTEx
rs8080706	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs8080706	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs8080706	ADORA2B	cis	Thyroid	GTEx
rs8080706	ADORA2B	cis	Muscle Skeletal	GTEx
rs8080706	ADORA2B	cis	Esophagus Muscularis	GTEx
rs8080706	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs8080706	CENPV	cis	Artery Tibial	GTEx
rs8080706	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs8080706	ADORA2B	cis	lung	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15915400-15998000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr17:15923800-15998000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:15961600-15995000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:15968000-16004600	Weak transcription	Stomach Mucosa	stomach
5	chr17:15975000-16000000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:15975000-16000800	Weak transcription	Small Intestine	intestine
7	chr17:15979800-16000000	Weak transcription	Fetal Heart	heart
8	chr17:15980200-16000000	Weak transcription	Esophagus	oesophagus
9	chr17:15982000-15994400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:15982600-15994600	Weak transcription	Spleen	Spleen
11	chr17:15982600-15994600	Weak transcription	NHEK	skin
12	chr17:15982600-15999400	Weak transcription	Right Ventricle	heart
13	chr17:15983200-16000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:15984000-15994000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr17:15984000-15994400	Weak transcription	Brain Hippocampus Middle	brain
16	chr17:15984000-15994600	Weak transcription	Ovary	ovary
17	chr17:15984000-15994600	Weak transcription	Psoas Muscle	Psoas
18	chr17:15984000-16000000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr17:15984000-16000000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr17:15984000-16000000	Weak transcription	Gastric	stomach
21	chr17:15984000-16000000	Weak transcription	Pancreas	Pancrea
22	chr17:15985200-15994400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr17:15985200-16000000	Weak transcription	Aorta	Aorta
24	chr17:15985400-15995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:15985400-15997200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:15985600-15994800	Weak transcription	K562	blood
27	chr17:15985600-16000800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr17:15986000-15994400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:15986200-15998000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:15986400-15997000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:15986800-15994600	Weak transcription	Fetal Intestine Small	intestine
32	chr17:15987000-15997200	Strong transcription	HSMM	muscle
33	chr17:15987000-15997600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr17:15987000-15997800	Strong transcription	Primary B cells from cord blood	blood
35	chr17:15987400-15994600	Weak transcription	Fetal Stomach	stomach
36	chr17:15987400-15997600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr17:15987600-15996600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr17:15987600-15999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:15988000-15994600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr17:15988000-15996400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:15988000-15996800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr17:15988200-15994000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:15988600-15994600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr17:15988800-15994600	Weak transcription	Brain Substantia Nigra	brain
45	chr17:15989000-15994000	Weak transcription	Fetal Brain Female	brain
46	chr17:15989000-15994400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr17:15989000-16000600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr17:15989200-15992400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr17:15989200-15994800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr17:15989200-16000000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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