Variant report

Variant	rs2324084
Chromosome Location	chr17:15896591-15896592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10491104	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1065822	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1075901	0.82[EUR][1000 genomes]
rs1079533	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078321	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078327	0.81[EUR][1000 genomes]
rs11078328	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078330	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11078331	0.81[EUR][1000 genomes]
rs1125156	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11651290	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11651508	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11652025	0.82[EUR][1000 genomes]
rs11655456	0.81[EUR][1000 genomes]
rs11656046	0.82[EUR][1000 genomes]
rs11657160	0.82[EUR][1000 genomes]
rs11657912	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11868809	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11869450	0.80[EUR][1000 genomes]
rs11869563	0.81[EUR][1000 genomes]
rs11871961	0.86[EUR][1000 genomes]
rs11872032	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12451075	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12942295	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12945546	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12947205	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12948361	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2015353	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2041459	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041460	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051736	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2157990	0.82[EUR][1000 genomes]
rs2157991	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2157992	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2285582	0.81[EUR][1000 genomes]
rs2301651	0.83[ASN][1000 genomes]
rs2779211	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34236618	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35168566	0.82[EUR][1000 genomes]
rs36001065	0.82[EUR][1000 genomes]
rs3760297	0.82[EUR][1000 genomes]
rs3760298	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785628	0.81[EUR][1000 genomes]
rs3785631	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3785633	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815038	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3815039	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3826360	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239134	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4791660	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4791661	0.85[EUR][1000 genomes]
rs4791662	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4792709	0.80[EUR][1000 genomes]
rs4792711	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4792712	0.81[EUR][1000 genomes]
rs4792713	0.82[EUR][1000 genomes]
rs4792715	0.80[EUR][1000 genomes]
rs4792716	0.82[EUR][1000 genomes]
rs4792717	0.82[EUR][1000 genomes]
rs4792719	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55676330	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62073587	0.83[EUR][1000 genomes]
rs6416868	0.80[EUR][1000 genomes]
rs6502482	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6502488	0.82[EUR][1000 genomes]
rs7207889	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7209094	0.81[EUR][1000 genomes]
rs7210655	0.81[EUR][1000 genomes]
rs7214891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7216949	0.80[EUR][1000 genomes]
rs7217614	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72833498	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs758853	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065190	0.82[EUR][1000 genomes]
rs8070859	0.81[EUR][1000 genomes]
rs8076669	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8076864	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8080706	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8081406	0.80[EUR][1000 genomes]
rs9652827	0.82[EUR][1000 genomes]
rs9652828	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9709250	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9889745	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9889822	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9890012	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9891379	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9896441	0.81[EUR][1000 genomes]
rs9897542	0.81[EUR][1000 genomes]
rs9898313	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9899002	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9905429	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9908031	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9909615	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9916868	0.82[EUR][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	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	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS 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	28 gene(s)	inside rSNPs	diseases
11	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats 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	30 gene(s)	inside rSNPs	diseases
12	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2324084	ADORA2B	cis	Artery Tibial	GTEx
rs2324084	ADORA2B	cis	Muscle Skeletal	GTEx
rs2324084	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs2324084	ADORA2B	cis	Thyroid	GTEx
rs2324084	ZSWIM7	cis	Muscle Skeletal	GTEx
rs2324084	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs2324084	ADORA2B	cis	Esophagus Muscularis	GTEx
rs2324084	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs2324084	ADORA2B	cis	Nerve Tibial	GTEx
rs2324084	CENPV	cis	Artery Tibial	GTEx
rs2324084	TTC19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15870400-15902400	Weak transcription	Small Intestine	intestine
2	chr17:15870800-15902400	Weak transcription	Esophagus	oesophagus
3	chr17:15873200-15902200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:15874800-15902400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:15878200-15901800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:15880200-15901600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:15881400-15901800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:15883400-15896600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr17:15883600-15896600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:15883600-15898000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr17:15883600-15898400	Strong transcription	Liver	Liver
12	chr17:15884000-15901600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr17:15884000-15902200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:15884400-15902000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:15884600-15898600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:15884600-15901600	Weak transcription	Fetal Kidney	kidney
17	chr17:15884600-15901600	Weak transcription	NHLF	lung
18	chr17:15884600-15902000	Weak transcription	Fetal Brain Male	brain
19	chr17:15884600-15902400	Weak transcription	Gastric	stomach
20	chr17:15884800-15902000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:15885000-15902000	Weak transcription	Psoas Muscle	Psoas
22	chr17:15885600-15902000	Weak transcription	Colonic Mucosa	Colon
23	chr17:15885600-15902400	Weak transcription	Lung	lung
24	chr17:15885800-15902000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:15886000-15900800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:15886000-15901200	Strong transcription	Fetal Intestine Small	intestine
27	chr17:15886200-15901800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr17:15886200-15902200	Weak transcription	Pancreas	Pancrea
29	chr17:15887200-15896600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr17:15887200-15897800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:15887200-15897800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:15887400-15898800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:15888000-15901400	Weak transcription	Hela-S3	cervix
34	chr17:15888200-15901000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:15888400-15901400	Weak transcription	Brain Angular Gyrus	brain
36	chr17:15888400-15901400	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:15888400-15902400	Weak transcription	Spleen	Spleen
38	chr17:15888600-15901800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr17:15889000-15899000	Weak transcription	Fetal Heart	heart
40	chr17:15889200-15899000	Weak transcription	NHDF-Ad	bronchial
41	chr17:15889200-15901600	Weak transcription	HSMM	muscle
42	chr17:15889400-15897800	Weak transcription	NHEK	skin
43	chr17:15889400-15901400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr17:15889600-15901800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr17:15890200-15901600	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:15890200-15901800	Weak transcription	Brain Germinal Matrix	brain
47	chr17:15890400-15902000	Weak transcription	Brain Substantia Nigra	brain
48	chr17:15890600-15900600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:15890600-15901600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr17:15890800-15897600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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