Variant report

Variant	rs1419005
Chromosome Location	chr20:23336432-23336433
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:23336340-23336597	K562	blood:	n/a	n/a
2	POLR2A	chr20:23335134-23339112	K562	blood:	n/a	n/a
3	POLR2A	chr20:23336309-23337185	GM12892	blood:	n/a	n/a
4	POLR2A	chr20:23336155-23336554	GM12892	blood:	n/a	n/a
5	POLR2A	chr20:23335434-23337891	A549	lung:	n/a	n/a
6	POLR2A	chr20:23336211-23337248	GM12878	blood:	n/a	n/a
7	NFYB	chr20:23336372-23336577	GM12878	blood:	n/a	n/a
8	POLR2A	chr20:23335979-23339442	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr20:23335466-23338042	HepG2	liver:	n/a	n/a
10	POLR2A	chr20:23336105-23336446	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:23336160-23339252	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr20:23335690-23337958	GM12878	blood:	n/a	n/a
13	POLR2A	chr20:23335851-23337807	HepG2	liver:	n/a	n/a
14	POLR2A	chr20:23336157-23337218	HepG2	liver:	n/a	n/a
15	POLR2A	chr20:23335931-23336676	K562	blood:	n/a	n/a
16	POLR2A	chr20:23335992-23339760	GM12891	blood:	n/a	n/a
17	POLR2A	chr20:23336288-23336557	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr20:23335995-23339278	PFSK-1	brain:	n/a	n/a
19	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:

No data

Variant related genes	Relation type
ENSG00000234832	TF binding region
ENSG00000269407	TF binding region
ENSG00000125814	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

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]
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];0.88[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][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];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][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	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][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];0.85[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][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];0.95[MEX][hapmap]
rs2424557	0.87[CEU][hapmap];0.81[MEX][hapmap]
rs3746734	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][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];0.88[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs6076057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[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[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[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]
rs6083084	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]
rs6083085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][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];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][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];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1419005	NAPB	cis	Artery Tibial	GTEx
rs1419005	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	chr20:23332400-23336600	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	chr20:23333000-23336800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:23333000-23337800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:23333000-23338000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:23333000-23338000	Weak transcription	Fetal Brain Male	brain
9	chr20:23333000-23338200	Weak transcription	Brain Angular Gyrus	brain
10	chr20:23333200-23337200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:23333200-23337200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:23333200-23337600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr20:23333200-23337600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr20:23333200-23337600	Weak transcription	Stomach Mucosa	stomach
15	chr20:23333200-23337800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr20:23333200-23337800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr20:23333200-23338000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr20:23333400-23336800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr20:23333600-23336600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:23333600-23336600	Weak transcription	Fetal Heart	heart
21	chr20:23333600-23337600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr20:23333600-23337600	Strong transcription	Fetal Intestine Small	intestine
23	chr20:23333800-23336800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr20:23333800-23336800	Strong transcription	Hela-S3	cervix
25	chr20:23333800-23337000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr20:23333800-23337000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr20:23333800-23337400	Genic enhancers	Dnd41	blood
28	chr20:23333800-23337400	Weak transcription	K562	blood
29	chr20:23333800-23337600	Weak transcription	Small Intestine	intestine
30	chr20:23333800-23337800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr20:23334200-23336800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr20:23334200-23336800	Strong transcription	Fetal Muscle Leg	muscle
33	chr20:23334200-23337000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr20:23334200-23337000	Strong transcription	Brain Germinal Matrix	brain
35	chr20:23334200-23337000	Strong transcription	Fetal Intestine Large	intestine
36	chr20:23334200-23337000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr20:23334200-23337000	Strong transcription	A549	lung
38	chr20:23334200-23337200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr20:23334200-23337200	Strong transcription	Fetal Thymus	thymus
40	chr20:23334400-23336600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr20:23334400-23336600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr20:23334400-23336600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr20:23334400-23336800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr20:23334400-23337000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr20:23334400-23337000	Strong transcription	Placenta	Placenta
46	chr20:23334400-23337200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr20:23334400-23337200	Strong transcription	Primary T cells from cord blood	blood
48	chr20:23334400-23337200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr20:23334600-23336600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:23334600-23336600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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