Variant report

Variant	rs6083084
Chromosome Location	chr20:23335582-23335583
allele	A/G
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	chr20:23335134-23339112	K562	blood:	n/a	n/a
2	EBF1	chr20:23335437-23335753	GM12878	blood:	n/a	chr20:23335584-23335595
3	POLR2A	chr20:23335437-23335899	HepG2	liver:	n/a	n/a
4	POLR2A	chr20:23335434-23337891	A549	lung:	n/a	n/a
5	POLR2A	chr20:23335466-23338042	HepG2	liver:	n/a	n/a
6	POLR2A	chr20:23335529-23335633	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:23335386-23339511	GM12878	blood:	n/a	n/a
8	POLR2A	chr20:23335320-23336056	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23334379..23336335-chr20:23383876..23386764,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269407	TF binding region
ENSG00000234832	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1056394	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11905630	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419009	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419010	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16985308	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1936013	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2000261	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2051093	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2144381	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2224074	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236022	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2249943	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2251145	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2252824	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2275787	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275788	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281429	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424528	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424530	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424531	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2424532	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2424534	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424535	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424536	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[MKK][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424537	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424539	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424540	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424541	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424544	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424545	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424546	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424548	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424549	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424550	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424551	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424552	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2424554	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424556	0.87[CEU][hapmap]
rs2424557	0.87[CEU][hapmap]
rs3746734	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4813490	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4813491	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813493	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4813495	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815199	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4815203	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048742	0.83[CEU][hapmap]
rs6048778	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs6076057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076059	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076071	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6076073	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6083083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083087	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6083088	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6083092	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083095	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083099	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6083100	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6083104	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083110	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6083111	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083119	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6132604	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6132607	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6132612	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6137899	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6137905	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137908	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137909	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137922	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6137924	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6137934	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137940	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137949	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7269627	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs743022	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs743023	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs743024	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs761726	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7988	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8118688	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8183442	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6083084	NAPB	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23332400-23336600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23332400-23336800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:23332600-23336600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr20:23332600-23337600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr20:23332800-23336200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr20:23333000-23336800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr20:23333000-23337800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr20:23333000-23338000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:23333000-23338000	Weak transcription	Fetal Brain Male	brain
10	chr20:23333000-23338200	Weak transcription	Brain Angular Gyrus	brain
11	chr20:23333200-23336400	Weak transcription	HSMM	muscle
12	chr20:23333200-23337200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:23333200-23337200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:23333200-23337600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr20:23333200-23337600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr20:23333200-23337600	Weak transcription	Stomach Mucosa	stomach
17	chr20:23333200-23337800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr20:23333200-23337800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr20:23333200-23338000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr20:23333400-23336800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr20:23333600-23335800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr20:23333600-23336400	Weak transcription	Psoas Muscle	Psoas
23	chr20:23333600-23336600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr20:23333600-23336600	Weak transcription	Fetal Heart	heart
25	chr20:23333600-23337600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr20:23333600-23337600	Strong transcription	Fetal Intestine Small	intestine
27	chr20:23333800-23336400	Strong transcription	Left Ventricle	heart
28	chr20:23333800-23336800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr20:23333800-23336800	Strong transcription	Hela-S3	cervix
30	chr20:23333800-23337000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr20:23333800-23337000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr20:23333800-23337400	Genic enhancers	Dnd41	blood
33	chr20:23333800-23337400	Weak transcription	K562	blood
34	chr20:23333800-23337600	Weak transcription	Small Intestine	intestine
35	chr20:23333800-23337800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr20:23334200-23335600	Strong transcription	NHEK	skin
37	chr20:23334200-23335800	Strong transcription	NHLF	lung
38	chr20:23334200-23336200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr20:23334200-23336800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr20:23334200-23336800	Strong transcription	Fetal Muscle Leg	muscle
41	chr20:23334200-23337000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr20:23334200-23337000	Strong transcription	Brain Germinal Matrix	brain
43	chr20:23334200-23337000	Strong transcription	Fetal Intestine Large	intestine
44	chr20:23334200-23337000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr20:23334200-23337000	Strong transcription	A549	lung
46	chr20:23334200-23337200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr20:23334200-23337200	Strong transcription	Fetal Thymus	thymus
48	chr20:23334400-23335600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr20:23334400-23335800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr20:23334400-23335800	Strong transcription	H9 Cell Line	embryonic stem cell

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