Variant report

Variant	rs178818
Chromosome Location	chr17:16091694-16091695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16089835..16092985-chr17:16117505..16120902,3	K562	blood:

Variant related genes	Relation type
ENSG00000141027	Chromatin interaction
ENSG00000108474	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10451230	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11658564	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11870608	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs178653	0.83[AMR][1000 genomes]
rs178654	0.90[AMR][1000 genomes]
rs178807	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs178810	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178814	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178815	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178821	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178822	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178824	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178825	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178826	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178827	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178828	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178831	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs178833	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178835	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178836	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178838	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178839	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2078050	0.81[AMR][1000 genomes]
rs2285579	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2285580	0.80[AMR][1000 genomes]
rs2324141	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2324142	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2875265	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3760293	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4566208	0.85[AMR][1000 genomes]
rs55844265	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6502490	0.83[AMR][1000 genomes]
rs6502491	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7222886	0.81[AMR][1000 genomes]
rs8079969	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9897388	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9907273	0.81[AMR][1000 genomes]
rs9908591	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
15	nsv907716	chr17:16068422-16116835	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
17	nsv907718	chr17:16080849-16143709	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv960423	chr17:16089865-16112673	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs178818	ADORA2B	cis	Muscle Skeletal	GTEx
rs178818	ADORA2B	cis	Thyroid	GTEx
rs178818	CENPV	cis	Artery Tibial	GTEx
rs178818	ADORA2B	cis	Artery Tibial	GTEx
rs178818	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs178818	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs178818	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs178818	ADORA2B	cis	Esophagus Muscularis	GTEx
rs178818	ADORA2B	cis	lung	GTEx
rs178818	ZSWIM7	cis	Muscle Skeletal	GTEx
rs178818	ADORA2B	cis	Heart Left Ventricle	GTEx
rs178818	ADORA2B	cis	Nerve Tibial	GTEx
rs178818	NCOR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16035800-16103400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr17:16039200-16096800	Weak transcription	K562	blood
3	chr17:16042000-16094200	Weak transcription	Psoas Muscle	Psoas
4	chr17:16049200-16093200	Weak transcription	Aorta	Aorta
5	chr17:16049200-16103400	Weak transcription	Spleen	Spleen
6	chr17:16049200-16108600	Weak transcription	Esophagus	oesophagus
7	chr17:16052200-16100400	Weak transcription	Ovary	ovary
8	chr17:16055200-16102600	Weak transcription	Brain Angular Gyrus	brain
9	chr17:16055400-16094000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:16055400-16104000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:16055800-16102000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:16059400-16094200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:16059400-16102400	Weak transcription	Small Intestine	intestine
14	chr17:16059400-16102400	Weak transcription	NHLF	lung
15	chr17:16059400-16102800	Weak transcription	Pancreas	Pancrea
16	chr17:16059800-16093200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:16062200-16093200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr17:16064000-16101000	Weak transcription	Lung	lung
19	chr17:16064600-16106000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:16067400-16094000	Weak transcription	Brain Anterior Caudate	brain
21	chr17:16069000-16093800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:16075400-16092800	Weak transcription	NHEK	skin
23	chr17:16075400-16093400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr17:16075400-16094000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr17:16075400-16096800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr17:16075600-16093400	Weak transcription	Brain Substantia Nigra	brain
27	chr17:16082000-16094000	Weak transcription	Fetal Heart	heart
28	chr17:16083600-16097000	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:16084000-16094200	Weak transcription	Gastric	stomach
30	chr17:16084200-16092000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:16084800-16098000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:16086000-16098000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr17:16086600-16101600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr17:16086600-16102400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr17:16086800-16102200	Weak transcription	Stomach Mucosa	stomach
36	chr17:16087200-16097600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr17:16087200-16098000	Strong transcription	Fetal Intestine Large	intestine
38	chr17:16087200-16108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:16087400-16097400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr17:16087800-16091800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr17:16088000-16117000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr17:16088200-16097000	Weak transcription	Fetal Brain Male	brain
43	chr17:16088200-16101800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:16088200-16102200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr17:16088200-16116200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr17:16088400-16093200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:16088400-16097200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:16088600-16096800	Strong transcription	Fetal Intestine Small	intestine
49	chr17:16088600-16097000	Strong transcription	Fetal Stomach	stomach
50	chr17:16088600-16101200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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