Variant report

Variant	rs36001065
Chromosome Location	chr17:15998172-15998173
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10491104	0.80[EUR][1000 genomes]
rs1065822	0.85[EUR][1000 genomes]
rs1079533	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10852833	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078328	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11078330	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11078332	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1125156	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1126148	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1160109	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11650678	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11651290	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11651508	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11655773	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11657912	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11868809	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11871961	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872032	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12150017	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12449895	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12451075	0.85[EUR][1000 genomes]
rs12937088	0.88[ASN][1000 genomes]
rs12939418	0.90[ASN][1000 genomes]
rs12942295	0.86[EUR][1000 genomes]
rs12945546	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12947205	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12948361	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs178657	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs178658	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs178659	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs178662	0.88[ASN][1000 genomes]
rs178801	0.81[AMR][1000 genomes]
rs178816	0.82[AMR][1000 genomes]
rs178820	0.82[AMR][1000 genomes]
rs178829	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs178834	0.81[ASN][1000 genomes]
rs1972503	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1989856	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2041459	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2041460	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2051736	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2157992	0.85[EUR][1000 genomes]
rs2324084	0.82[EUR][1000 genomes]
rs34236618	0.81[AMR][1000 genomes]
rs35160872	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3760298	0.81[EUR][1000 genomes]
rs3785631	0.85[EUR][1000 genomes]
rs3785633	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3815038	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3815039	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3826360	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4239134	0.80[EUR][1000 genomes]
rs4791660	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4791661	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4791662	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4792711	0.82[EUR][1000 genomes]
rs4792719	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs545738	0.81[AMR][1000 genomes]
rs55676330	0.80[EUR][1000 genomes]
rs7207889	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214891	0.82[EUR][1000 genomes]
rs7216834	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72833498	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758853	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8076864	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8080706	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9652828	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9889822	0.85[EUR][1000 genomes]
rs9890012	0.85[EUR][1000 genomes]
rs9891379	0.86[EUR][1000 genomes]
rs9891646	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9898313	0.87[EUR][1000 genomes]
rs9899002	0.85[EUR][1000 genomes]
rs9902141	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9903464	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9905429	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9907313	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9908031	0.85[EUR][1000 genomes]
rs9909615	0.85[EUR][1000 genomes]
rs9909697	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs36001065	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs36001065	ADORA2B	cis	Thyroid	GTEx
rs36001065	ADORA2B	cis	Artery Tibial	GTEx
rs36001065	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs36001065	ADORA2B	cis	Muscle Skeletal	GTEx
rs36001065	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs36001065	ADORA2B	cis	Esophagus Muscularis	GTEx
rs36001065	ZSWIM7	cis	Muscle Skeletal	GTEx
rs36001065	CENPV	cis	Artery Tibial	GTEx
rs36001065	ADORA2B	cis	Nerve Tibial	GTEx
rs36001065	TTC19	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15968000-16004600	Weak transcription	Stomach Mucosa	stomach
2	chr17:15975000-16000000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:15975000-16000800	Weak transcription	Small Intestine	intestine
4	chr17:15979800-16000000	Weak transcription	Fetal Heart	heart
5	chr17:15980200-16000000	Weak transcription	Esophagus	oesophagus
6	chr17:15982600-15999400	Weak transcription	Right Ventricle	heart
7	chr17:15983200-16000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:15984000-16000000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr17:15984000-16000000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:15984000-16000000	Weak transcription	Gastric	stomach
11	chr17:15984000-16000000	Weak transcription	Pancreas	Pancrea
12	chr17:15985200-16000000	Weak transcription	Aorta	Aorta
13	chr17:15985600-16000800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:15987600-15999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:15989000-16000600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr17:15989200-16000000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr17:15989200-16000000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:15989400-15999800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:15989400-16000000	Weak transcription	Colon Smooth Muscle	Colon
20	chr17:15989400-16000400	Weak transcription	Brain Angular Gyrus	brain
21	chr17:15990600-15999800	Weak transcription	HMEC	breast
22	chr17:15990600-16000200	Weak transcription	Colonic Mucosa	Colon
23	chr17:15990800-15999800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:15993400-16000400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr17:15993600-15998200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:15994600-15998400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:15995400-15999800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr17:15995400-15999800	Weak transcription	Hela-S3	cervix
29	chr17:15995400-16000000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:15995400-16000000	Weak transcription	Brain Anterior Caudate	brain
31	chr17:15995400-16000000	Weak transcription	Brain Substantia Nigra	brain
32	chr17:15995400-16000000	Weak transcription	Fetal Kidney	kidney
33	chr17:15995400-16000000	Weak transcription	Left Ventricle	heart
34	chr17:15995400-16000000	Weak transcription	Psoas Muscle	Psoas
35	chr17:15995400-16000000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:15995400-16000200	Weak transcription	Fetal Brain Male	brain
37	chr17:15995400-16000600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr17:15995400-16004800	Weak transcription	K562	blood
39	chr17:15995400-16021400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr17:15995600-15999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr17:15995600-15999800	Weak transcription	Brain Hippocampus Middle	brain
42	chr17:15995600-15999800	Weak transcription	NHDF-Ad	bronchial
43	chr17:15995600-16000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr17:15995600-16000000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr17:15995600-16000000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr17:15995600-16000000	Weak transcription	HSMMtube	muscle
47	chr17:15995600-16000400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr17:15995600-16001000	Weak transcription	HUVEC	blood vessel
49	chr17:15995800-15999800	Weak transcription	Adipose Nuclei	Adipose
50	chr17:15995800-16000000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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