Variant report

Variant	rs1056394
Chromosome Location	chr20:23337422-23337423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:23336781-23339672	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr20:23335134-23339112	K562	blood:	n/a	n/a
3	POLR2A	chr20:23336617-23340019	IMR90	lung:	n/a	n/a
4	POLR2A	chr20:23335434-23337891	A549	lung:	n/a	n/a
5	POLR2A	chr20:23335979-23339442	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr20:23335466-23338042	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:23336160-23339252	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr20:23337311-23337477	K562	blood:	n/a	n/a
9	POLR2A	chr20:23335690-23337958	GM12878	blood:	n/a	n/a
10	POLR2A	chr20:23335851-23337807	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:23337275-23337926	GM12892	blood:	n/a	n/a
12	POLR2A	chr20:23337343-23337471	HepG2	liver:	n/a	n/a
13	POLR2A	chr20:23335992-23339760	GM12891	blood:	n/a	n/a
14	POLR2A	chr20:23336574-23338181	GM12892	blood:	n/a	n/a
15	POLR2A	chr20:23335995-23339278	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr20:23335386-23339511	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23336285..23337868-chr20:23382600..23384693,2	MCF-7	breast:
2	chr20:23336395..23338655-chr20:23399846..23402203,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NAPB-1	chr20:23337231-23337462	XLOC_013693
2	lnc-NAPB-1	chr20:23337231-23337606	XLOC_013693
3	lnc-NAPB-1	chr20:23337240-23337462	XLOC_013693
4	lnc-NAPB-1	chr20:23337240-23337606	NONHSAT079053
5	lnc-NAPB-1	chr20:23337240-23337774	NONHSAT079055
6	lnc-NAPB-1	chr20:23337231-23337606	NR_109884

No data

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

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11905630	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1419005	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419006	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419009	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1419010	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16985308	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1936013	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2000261	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2051093	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2144381	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2224074	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236022	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2249943	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2251145	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2252824	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2275787	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2275788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2281429	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424528	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424530	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2424531	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2424532	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424534	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424535	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424536	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424537	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424539	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424540	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424541	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424544	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424545	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424546	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424548	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424549	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424550	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424551	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424552	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424554	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3746734	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4813490	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4813491	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4813493	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4813495	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4815199	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4815203	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048778	0.86[ASN][1000 genomes]
rs6076057	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6076059	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6076071	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6076073	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6083083	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083084	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083085	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083087	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083088	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083092	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6083095	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6083099	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6083100	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6083104	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6083110	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6083111	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6083119	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6132604	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6132607	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6132612	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6137899	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137908	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6137909	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6137922	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137924	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137934	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6137940	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6137949	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7269627	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs743022	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs743023	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs743024	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs761726	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7988	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8118688	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8183442	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1056394	NAPB	cis	Artery Tibial	GTEx
rs1056394	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	chr20:23332600-23337600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr20:23333000-23337800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:23333000-23338000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:23333000-23338000	Weak transcription	Fetal Brain Male	brain
5	chr20:23333000-23338200	Weak transcription	Brain Angular Gyrus	brain
6	chr20:23333200-23337600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr20:23333200-23337600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr20:23333200-23337600	Weak transcription	Stomach Mucosa	stomach
9	chr20:23333200-23337800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr20:23333200-23337800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr20:23333200-23338000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr20:23333600-23337600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr20:23333600-23337600	Strong transcription	Fetal Intestine Small	intestine
14	chr20:23333800-23337600	Weak transcription	Small Intestine	intestine
15	chr20:23333800-23337800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr20:23334600-23337600	Strong transcription	Fetal Stomach	stomach
17	chr20:23335000-23337800	Weak transcription	HSMMtube	muscle
18	chr20:23335200-23338000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr20:23335600-23337600	Weak transcription	Primary B cells from cord blood	blood
20	chr20:23335600-23337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:23335600-23337800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr20:23335600-23337800	Weak transcription	NHEK	skin
23	chr20:23335600-23338000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr20:23335600-23338000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr20:23335600-23338200	Weak transcription	Aorta	Aorta
26	chr20:23335800-23337600	Weak transcription	NHLF	lung
27	chr20:23335800-23337800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr20:23335800-23337800	Weak transcription	Brain Anterior Caudate	brain
29	chr20:23335800-23338000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr20:23335800-23338000	Weak transcription	Colonic Mucosa	Colon
31	chr20:23335800-23338200	Weak transcription	Brain Substantia Nigra	brain
32	chr20:23335800-23338200	Weak transcription	Ovary	ovary
33	chr20:23336000-23337600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr20:23336200-23337800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr20:23336200-23337800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr20:23336200-23337800	Weak transcription	Colon Smooth Muscle	Colon
37	chr20:23336200-23338200	Weak transcription	Fetal Kidney	kidney
38	chr20:23336400-23337600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:23336400-23337600	Weak transcription	Adipose Nuclei	Adipose
40	chr20:23336400-23337600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr20:23336400-23337600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr20:23336400-23337800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr20:23336400-23337800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr20:23336600-23337600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr20:23336600-23337600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr20:23336600-23337600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr20:23336600-23337800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr20:23336600-23337800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr20:23336600-23337800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr20:23336600-23337800	Weak transcription	Rectal Mucosa Donor 31	rectum

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