Variant report

Variant	rs4792721
Chromosome Location	chr17:16006827-16006828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16000342..16002762-chr17:16006571..16009952,3	K562	blood:

Variant related genes	Relation type
ENSG00000252383	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 17 )

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

rs_ID	r²[population]
rs10451230	0.81[EUR][1000 genomes]
rs10491104	0.80[TSI][hapmap]
rs1075901	0.82[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs1079533	0.86[GIH][hapmap];0.87[TSI][hapmap]
rs11078331	0.81[EUR][1000 genomes]
rs11651290	0.86[GIH][hapmap];0.87[TSI][hapmap]
rs11652025	0.81[EUR][1000 genomes]
rs11656046	0.81[EUR][1000 genomes]
rs11657160	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs11658564	0.83[EUR][1000 genomes]
rs11869450	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs11869563	0.81[CEU][hapmap];0.87[TSI][hapmap]
rs11870608	0.83[EUR][1000 genomes]
rs178657	0.83[TSI][hapmap]
rs178789	0.81[TSI][hapmap]
rs178791	0.83[TSI][hapmap]
rs178797	0.83[TSI][hapmap]
rs178798	0.83[TSI][hapmap]
rs178814	0.85[CEU][hapmap]
rs178815	0.85[CEU][hapmap];0.84[TSI][hapmap]
rs178820	0.83[TSI][hapmap]
rs178822	0.85[CEU][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs178837	0.81[TSI][hapmap]
rs178838	0.85[CEU][hapmap]
rs178839	0.85[CEU][hapmap]
rs1989856	0.83[TSI][hapmap]
rs2041460	0.86[GIH][hapmap];0.85[TSI][hapmap]
rs2078050	0.85[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2157990	0.82[CEU][hapmap];0.86[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs2157991	0.85[CEU][hapmap];0.83[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs2157992	0.81[GIH][hapmap];0.85[TSI][hapmap]
rs2285579	0.81[EUR][1000 genomes]
rs2285580	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2285582	0.81[EUR][1000 genomes]
rs2301652	0.81[TSI][hapmap]
rs2302415	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs2324141	0.85[CEU][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2324142	0.85[CEU][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs2779211	0.80[TSI][hapmap]
rs2875265	0.81[EUR][1000 genomes]
rs35168566	0.81[EUR][1000 genomes]
rs3760293	0.81[EUR][1000 genomes]
rs3760298	0.86[GIH][hapmap];0.85[TSI][hapmap]
rs3785628	0.85[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs3785631	0.82[GIH][hapmap];0.89[TSI][hapmap]
rs3785633	0.86[GIH][hapmap];0.87[TSI][hapmap]
rs3815039	0.86[GIH][hapmap];0.87[TSI][hapmap]
rs3826360	0.86[GIH][hapmap];0.87[TSI][hapmap]
rs4435297	0.82[CEU][hapmap];0.83[GIH][hapmap];0.91[TSI][hapmap]
rs4566208	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4792715	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs4792716	0.81[EUR][1000 genomes]
rs4792717	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs4792718	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs6416868	0.81[CEU][hapmap]
rs6502482	0.85[CEU][hapmap]
rs6502488	0.85[CEU][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs6502491	0.81[EUR][1000 genomes]
rs7207463	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7214695	0.85[CEU][hapmap]
rs7222886	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7223346	0.85[CEU][hapmap];0.83[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs758853	0.86[GIH][hapmap];0.85[TSI][hapmap]
rs8064702	0.82[EUR][1000 genomes]
rs8065190	0.81[EUR][1000 genomes]
rs8070859	0.81[CEU][hapmap];0.87[TSI][hapmap]
rs8076864	0.86[GIH][hapmap];0.87[TSI][hapmap]
rs8079969	0.85[CEU][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs9652827	0.81[EUR][1000 genomes]
rs9709250	0.80[EUR][1000 genomes]
rs9890012	0.86[GIH][hapmap];0.89[TSI][hapmap]
rs9891379	0.88[GIH][hapmap];0.87[TSI][hapmap]
rs9891938	0.81[CEU][hapmap]
rs9896441	0.81[EUR][1000 genomes]
rs9897388	0.81[EUR][1000 genomes]
rs9902141	0.83[TSI][hapmap]
rs9903464	0.81[TSI][hapmap]
rs9907273	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9908031	0.86[GIH][hapmap];0.89[TSI][hapmap]
rs9916868	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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:17)

SNP	Gene	Cis/trans	Tissue	Source
rs4792721	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs4792721	ADORA2B	cis	Artery Tibial	GTEx
rs4792721	ADORA2B	cis	Muscle Skeletal	GTEx
rs4792721	ADORA2B	cis	multi-tissue	Pritchard
rs4792721	ADORA2B	cis	Thyroid	GTEx
rs4792721	CENPV	cis	Artery Tibial	GTEx
rs4792721	TTC19	cis	lymphoblastoid	seeQTL
rs4792721	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs4792721	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs4792721	NCOR1	cis	parietal	SCAN
rs4792721	PRPSAP2	cis	parietal	SCAN
rs4792721	ZSWIM7	cis	Muscle Skeletal	GTEx
rs4792721	ADORA2B	cis	Esophagus Muscularis	GTEx
rs4792721	ADORA2B	cis	Nerve Tibial	GTEx
rs4792721	PIGL	cis	multi-tissue	Pritchard
rs4792721	CENPV	cis	parietal	SCAN
rs4792721	TTC19	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15995400-16021400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:15999400-16008400	Strong transcription	Placenta	Placenta
3	chr17:15999400-16009200	Strong transcription	Osteobl	bone
4	chr17:15999400-16012200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:15999400-16012200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr17:15999400-16052400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr17:15999800-16012200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:15999800-16012200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr17:15999800-16012400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr17:15999800-16012400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr17:15999800-16012400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:15999800-16012400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr17:15999800-16047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:16000200-16013000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:16000800-16018000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:16001000-16012400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:16001200-16009800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:16001400-16010400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:16001600-16017600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:16001600-16018000	Weak transcription	HMEC	breast
21	chr17:16001600-16019200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:16001800-16017400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr17:16001800-16017800	Weak transcription	Fetal Heart	heart
24	chr17:16001800-16018200	Weak transcription	Psoas Muscle	Psoas
25	chr17:16002000-16017600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr17:16002000-16019400	Weak transcription	Small Intestine	intestine
27	chr17:16002200-16009400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr17:16002400-16009800	Weak transcription	Colon Smooth Muscle	Colon
29	chr17:16003400-16008200	Strong transcription	Fetal Intestine Small	intestine
30	chr17:16003400-16008800	Strong transcription	Fetal Stomach	stomach
31	chr17:16003800-16008600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:16003800-16011000	Strong transcription	Lung	lung
33	chr17:16004000-16009400	Strong transcription	Adipose Nuclei	Adipose
34	chr17:16004000-16012600	Strong transcription	Fetal Intestine Large	intestine
35	chr17:16004000-16017600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:16004200-16008200	Strong transcription	HepG2	liver
37	chr17:16004200-16009000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr17:16004200-16009000	Strong transcription	Thymus	Thymus
39	chr17:16004200-16012400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr17:16004200-16012400	Strong transcription	GM12878-XiMat	blood
41	chr17:16004400-16012200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr17:16005000-16007600	Weak transcription	Colonic Mucosa	Colon
43	chr17:16005000-16007600	Weak transcription	Fetal Kidney	kidney
44	chr17:16005000-16007800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr17:16005000-16008000	Weak transcription	Aorta	Aorta
46	chr17:16005000-16008000	Weak transcription	NHEK	skin
47	chr17:16005000-16009000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:16005000-16009200	Weak transcription	Ovary	ovary
49	chr17:16005000-16009600	Weak transcription	HUVEC	blood vessel
50	chr17:16005000-16009600	Weak transcription	K562	blood

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