Variant report

Variant	rs4813491
Chromosome Location	chr20:23338089-23338090
allele	C/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	chr20:23337640-23339345	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr20:23337680-23339379	K562	blood:	n/a	n/a
3	POLR2A	chr20:23336781-23339672	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr20:23337428-23339014	GM12892	blood:	n/a	n/a
5	POLR2A	chr20:23335134-23339112	K562	blood:	n/a	n/a
6	POLR2A	chr20:23337594-23338126	PANC-1	pancreas:	n/a	n/a
7	CHD1	chr20:23337681-23339644	IMR90	lung:	n/a	n/a
8	POLR2A	chr20:23337515-23339271	GM12878	blood:	n/a	n/a
9	MTA3	chr20:23338005-23339269	GM12878	blood:	n/a	n/a
10	POLR2A	chr20:23338040-23338229	K562	blood:	n/a	n/a
11	POLR2A	chr20:23336617-23340019	IMR90	lung:	n/a	n/a
12	POLR2A	chr20:23337754-23339288	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr20:23337851-23339583	PBDE	blood:	n/a	n/a
14	POLR2A	chr20:23337947-23339429	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr20:23337996-23339249	MCF-7	breast:	n/a	n/a
16	POLR2A	chr20:23335979-23339442	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr20:23337910-23339363	K562	blood:	n/a	n/a
18	POLR2A	chr20:23338038-23338311	Hela-S3	cervix:	n/a	n/a
19	HA-E2F1	chr20:23337839-23339384	MCF-7	breast:	n/a	n/a
20	HCFC1	chr20:23338021-23339541	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr20:23336160-23339252	Hela-S3	cervix:	n/a	n/a
22	MAX	chr20:23337941-23339227	Hela-S3	cervix:	n/a	chr20:23338835-23338848 chr20:23338836-23338847 chr20:23338837-23338846 chr20:23338837-23338846 chr20:23338859-23338869 chr20:23338835-23338848 chr20:23338837-23338846 chr20:23338836-23338847 chr20:23338836-23338845
23	POLR2A	chr20:23337617-23339449	HepG2	liver:	n/a	n/a
24	POLR2A	chr20:23337896-23339157	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr20:23337758-23338118	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr20:23337797-23339394	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr20:23338062-23339143	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr20:23337923-23339471	Raji	blood:	n/a	n/a
29	POLR2A	chr20:23338052-23339222	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr20:23337914-23339295	Hela-S3	cervix:	n/a	n/a
31	MXI1	chr20:23337557-23339263	IMR90	lung:	n/a	chr20:23338838-23338847
32	MXI1	chr20:23337698-23339983	SK-N-SH	brain:	n/a	chr20:23338838-23338847
33	POLR2A	chr20:23335992-23339760	GM12891	blood:	n/a	n/a
34	POLR2A	chr20:23338045-23339498	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr20:23336574-23338181	GM12892	blood:	n/a	n/a
36	POLR2A	chr20:23335995-23339278	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr20:23335386-23339511	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:10443979..10444576-chr20:23338067..23338836,2	NB4	blood:
2	chr20:23337962..23338483-chr9:139776685..139777268,2	Hela-S3	cervix:
3	chr20:23336395..23338655-chr20:23399846..23402203,2	K562	blood:
4	chr20:23337918..23344174-chr20:23400107..23404916,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269407	TF binding region
GZF1	TF binding region
ENSG00000161847	Chromatin interaction
ENSG00000125814	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1056394	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11905630	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419005	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419006	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419009	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419010	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16985308	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1936013	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2000261	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2051093	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2144381	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2224074	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236022	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2249943	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2251145	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2252824	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2275787	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275788	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281429	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424528	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424530	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424531	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2424532	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2424534	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424535	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424536	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424537	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424539	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424540	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424541	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424544	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424545	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424546	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424548	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424549	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424550	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424551	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424552	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424554	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3746734	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4813490	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4813493	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4813495	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815199	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4815203	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048778	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6076057	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076059	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076071	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6076073	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6083083	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083084	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083085	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083087	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6083088	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6083092	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083095	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083099	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6083100	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6083104	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083110	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6083111	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083119	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6132604	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6132607	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6132612	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6137899	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6137905	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137908	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137909	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137922	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6137924	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6137934	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137940	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137949	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7269627	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs743022	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs743023	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs743024	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs761726	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7988	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8118688	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8183442	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4813491	NAPB	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23333000-23338200	Weak transcription	Brain Angular Gyrus	brain
2	chr20:23335600-23338200	Weak transcription	Aorta	Aorta
3	chr20:23335800-23338200	Weak transcription	Brain Substantia Nigra	brain
4	chr20:23335800-23338200	Weak transcription	Ovary	ovary
5	chr20:23336200-23338200	Weak transcription	Fetal Kidney	kidney
6	chr20:23336600-23338200	Enhancers	Fetal Heart	heart
7	chr20:23336800-23338200	Enhancers	Left Ventricle	heart
8	chr20:23336800-23339200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr20:23336800-23339200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr20:23336800-23339200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr20:23336800-23339400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr20:23337000-23338400	Weak transcription	Gastric	stomach
13	chr20:23337000-23338400	Weak transcription	Spleen	Spleen
14	chr20:23337200-23338200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:23337400-23338200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr20:23337600-23338200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr20:23337600-23338200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr20:23337600-23338200	Enhancers	Fetal Thymus	thymus
19	chr20:23337600-23338200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr20:23337600-23338200	Enhancers	Small Intestine	intestine
21	chr20:23337600-23338200	Enhancers	Stomach Mucosa	stomach
22	chr20:23337600-23338400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr20:23337600-23338600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr20:23337600-23338600	Flanking Active TSS	Dnd41	blood
25	chr20:23337600-23338600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr20:23337600-23338800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:23337600-23339200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:23337600-23339200	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr20:23337600-23339200	Active TSS	Thymus	Thymus
30	chr20:23337600-23339400	Active TSS	NHLF	lung
31	chr20:23337600-23339600	Active TSS	Stomach Smooth Muscle	stomach
32	chr20:23337800-23338200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr20:23337800-23338200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr20:23337800-23338200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr20:23337800-23338200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr20:23337800-23338200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr20:23337800-23338200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr20:23337800-23338200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr20:23337800-23338200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr20:23337800-23338200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr20:23337800-23338200	Enhancers	Brain Anterior Caudate	brain
42	chr20:23337800-23338200	Active TSS	Brain Germinal Matrix	brain
43	chr20:23337800-23338200	Enhancers	Fetal Lung	lung
44	chr20:23337800-23338200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr20:23337800-23338200	Flanking Active TSS	NHEK	skin
46	chr20:23337800-23338400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr20:23337800-23338400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr20:23337800-23338400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr20:23337800-23338400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr20:23337800-23338400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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