Variant report

Variant	rs2051093
Chromosome Location	chr20:23371349-23371350
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	chr20:23370019..23371821-chr20:23372908..23375438,2	MCF-7	breast:
2	chr20:23369812..23371828-chr20:23372663..23375107,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1056394	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11087428	0.87[EUR][1000 genomes]
rs11905630	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1419005	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419006	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419009	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1419010	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16985308	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1936013	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2000261	0.81[ASN][1000 genomes]
rs2144381	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224074	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2249943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2251145	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2252824	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2275787	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2275788	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2281429	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2405127	0.86[AFR][1000 genomes]
rs2424528	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424530	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2424531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2424534	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424535	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424536	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424537	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424539	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424540	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424541	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424544	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424545	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424546	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424548	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424549	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424550	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424551	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424552	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2424554	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2424556	0.88[EUR][1000 genomes]
rs2424557	0.87[EUR][1000 genomes]
rs2424560	0.86[AFR][1000 genomes]
rs3746734	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4813490	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4813491	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4813493	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4813495	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4815199	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4815203	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6048778	0.97[ASN][1000 genomes]
rs6076057	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6076059	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6076071	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6076073	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6083083	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083084	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083085	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083087	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6083088	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6083092	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083095	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083099	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6083100	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6083104	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6083110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6083111	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083119	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6114085	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6132604	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6132607	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6132612	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6137899	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6137905	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6137908	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137909	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137922	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6137924	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137934	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137940	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6137949	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7269627	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs743022	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs743023	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs743024	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs761726	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7988	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8118688	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8183442	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2051093	NAPB	cis	Esophagus Muscularis	GTEx
rs2051093	NAPB	Cis_1M	lymphoblastoid	RTeQTL
rs2051093	NAPB	cis	Skin Sun Exposed Lower leg	GTEx
rs2051093	NAPB	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23344000-23392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:23348000-23374200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr20:23348200-23384800	Weak transcription	Stomach Mucosa	stomach
4	chr20:23351200-23374000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:23351400-23374000	Weak transcription	Fetal Brain Male	brain
6	chr20:23352800-23376400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr20:23353000-23378200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr20:23353400-23372400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr20:23353400-23374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr20:23354400-23389000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr20:23354400-23399800	Weak transcription	Hela-S3	cervix
12	chr20:23354600-23374200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr20:23354600-23375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr20:23354800-23373600	Weak transcription	Colonic Mucosa	Colon
15	chr20:23356600-23374200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr20:23358000-23373600	Weak transcription	Right Ventricle	heart
17	chr20:23358000-23374400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr20:23358200-23373600	Weak transcription	Brain Angular Gyrus	brain
19	chr20:23358200-23377800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr20:23358600-23372400	Weak transcription	HMEC	breast
21	chr20:23360200-23373600	Weak transcription	NHLF	lung
22	chr20:23361200-23399600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr20:23362000-23372400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr20:23362000-23372600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr20:23363000-23372400	Weak transcription	Colon Smooth Muscle	Colon
26	chr20:23363000-23374400	Weak transcription	Psoas Muscle	Psoas
27	chr20:23363000-23375000	Weak transcription	Fetal Heart	heart
28	chr20:23364200-23371400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr20:23364800-23378000	Strong transcription	Primary T cells from cord blood	blood
30	chr20:23365200-23371400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr20:23365400-23376200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:23365600-23372600	Weak transcription	Gastric	stomach
33	chr20:23365600-23373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr20:23365800-23376000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr20:23366000-23372800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr20:23366400-23377600	Weak transcription	Right Atrium	heart
37	chr20:23366800-23376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr20:23366800-23382400	Strong transcription	Dnd41	blood
39	chr20:23367000-23371600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr20:23367000-23377000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr20:23367000-23378200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr20:23367200-23376000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr20:23367200-23376000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr20:23367200-23377600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr20:23367400-23371600	Strong transcription	HSMM	muscle
46	chr20:23367400-23373400	Weak transcription	Brain Hippocampus Middle	brain
47	chr20:23367600-23371400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr20:23367600-23371400	Strong transcription	Osteobl	bone
49	chr20:23367600-23376400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr20:23367800-23376000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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