Variant report

Variant	rs6083092
Chromosome Location	chr20:23348836-23348837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:23345662-23352219	GM12878	blood:	n/a	n/a
2	IRF1	chr20:23348831-23348864	K562	blood:	n/a	n/a
3	POLR2A	chr20:23341279-23355011	HepG2	liver:	n/a	n/a
4	FOS	chr20:23348390-23348886	MCF10A-Er-Src	breast:	n/a	chr20:23348594-23348605
5	FOS	chr20:23348403-23348844	MCF10A-Er-Src	breast:	n/a	chr20:23348594-23348605
6	POLR2A	chr20:23341069-23355530	K562	blood:	n/a	n/a
7	POLR2A	chr20:23348780-23348845	MCF10A-Er-Src	breast:	n/a	n/a
8	CUX1	chr20:23348775-23349154	K562	blood:	n/a	n/a
9	FOSL2	chr20:23348331-23348865	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23345633..23349899-chr20:23400647..23404181,5	K562	blood:
2	chr20:23345633..23349899-chr20:23400854..23404181,4	K562	blood:

Variant related genes	Relation type
GZF1	TF binding region
ENSG00000125814	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1056394	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11087428	0.84[EUR][1000 genomes]
rs11905630	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1419005	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1419006	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1419009	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1419010	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16985308	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1936013	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2000261	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2051093	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2144381	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2224074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236022	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2249943	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2251145	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2252824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275787	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2275788	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281429	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424528	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424530	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424531	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424532	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424534	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424535	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424536	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424537	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424539	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424540	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2424541	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424544	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424545	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424546	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424548	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424549	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424550	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2424551	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424552	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424554	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424556	0.85[EUR][1000 genomes]
rs2424557	0.85[EUR][1000 genomes]
rs3746734	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813490	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4813491	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4813493	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4813495	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4815199	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815203	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6048778	0.92[ASN][1000 genomes]
rs6076057	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6076059	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6076071	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6076073	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083083	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083084	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083085	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083087	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083088	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083095	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083099	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083100	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083104	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083110	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083111	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6083119	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6114085	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6132604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6132607	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6132612	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137899	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6137905	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6137908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137922	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6137924	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137934	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6137940	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6137949	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7269627	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743022	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs743023	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs743024	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs761726	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7988	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8118688	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8183442	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6083092	NAPB	cis	Artery Tibial	GTEx
rs6083092	NAPB	Cis_1M	lymphoblastoid	RTeQTL
rs6083092	NAPB	cis	Esophagus Muscularis	GTEx
rs6083092	NAPB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23342400-23352600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:23344000-23392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr20:23344400-23349200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr20:23344400-23350200	Weak transcription	Fetal Kidney	kidney
5	chr20:23344600-23354200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:23344800-23362400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr20:23345000-23349600	Genic enhancers	HepG2	liver
8	chr20:23345000-23361800	Strong transcription	Fetal Thymus	thymus
9	chr20:23345000-23362000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr20:23345000-23362600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr20:23346200-23349400	Genic enhancers	HMEC	breast
12	chr20:23346400-23349600	Genic enhancers	K562	blood
13	chr20:23346400-23349800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr20:23346400-23350000	Weak transcription	Aorta	Aorta
15	chr20:23346600-23349200	Enhancers	Brain Hippocampus Middle	brain
16	chr20:23346600-23349400	Enhancers	Liver	Liver
17	chr20:23346600-23349600	Genic enhancers	NHDF-Ad	bronchial
18	chr20:23346600-23349800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:23346600-23363200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr20:23346800-23349400	Weak transcription	Fetal Intestine Large	intestine
21	chr20:23346800-23349400	Weak transcription	Thymus	Thymus
22	chr20:23346800-23349600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr20:23346800-23349800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr20:23346800-23349800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr20:23346800-23349800	Weak transcription	Gastric	stomach
26	chr20:23346800-23349800	Weak transcription	Ovary	ovary
27	chr20:23346800-23349800	Weak transcription	Pancreas	Pancrea
28	chr20:23346800-23349800	Genic enhancers	Osteobl	bone
29	chr20:23346800-23350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:23346800-23350000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:23346800-23350000	Weak transcription	Esophagus	oesophagus
32	chr20:23346800-23350000	Weak transcription	Lung	lung
33	chr20:23346800-23350400	Weak transcription	Fetal Brain Male	brain
34	chr20:23346800-23350800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr20:23346800-23362600	Weak transcription	Right Atrium	heart
36	chr20:23347000-23349000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr20:23347000-23349400	Weak transcription	Colonic Mucosa	Colon
38	chr20:23347000-23349400	Weak transcription	Left Ventricle	heart
39	chr20:23347000-23349800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr20:23347000-23350000	Weak transcription	Fetal Stomach	stomach
41	chr20:23347000-23350200	Weak transcription	Fetal Intestine Small	intestine
42	chr20:23347200-23349600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr20:23347200-23349600	Genic enhancers	HSMM	muscle
44	chr20:23347200-23362400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr20:23347400-23349400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr20:23347400-23349600	Weak transcription	Placenta	Placenta
47	chr20:23347400-23362000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr20:23347600-23349200	Weak transcription	Adipose Nuclei	Adipose
49	chr20:23347600-23349400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr20:23347600-23349400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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