Variant report

Variant	rs743022
Chromosome Location	chr20:23401129-23401130
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23336395..23338655-chr20:23399846..23402203,2	K562	blood:
2	chr20:23342672..23344892-chr20:23400555..23402881,3	MCF-7	breast:
3	chr20:23331362..23333588-chr20:23399396..23402095,2	K562	blood:
4	chr20:23337918..23344174-chr20:23400107..23404916,9	MCF-7	breast:
5	chr20:23330877..23333588-chr20:23399396..23402604,5	K562	blood:
6	chr20:23400976..23401856-chr20:23422235..23423058,2	MCF-7	breast:
7	chr20:23328647..23330996-chr20:23399236..23401652,2	K562	blood:
8	chr20:23338809..23345308-chr20:23399768..23403114,12	K562	blood:
9	chr20:23388261..23390849-chr20:23399031..23401935,2	K562	blood:
10	chr20:23340976..23344072-chr20:23400128..23403114,5	K562	blood:
11	chr20:23400310..23402508-chr20:23615661..23618868,3	MCF-7	breast:
12	chr20:23345633..23349899-chr20:23400854..23404181,4	K562	blood:
13	chr20:23400787..23402892-chr20:23617355..23620191,2	MCF-7	breast:
14	chr20:23345633..23349899-chr20:23400647..23404181,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132661	Chromatin interaction
ENSG00000234832	Chromatin interaction
ENSG00000101439	Chromatin interaction
ENSG00000232645	Chromatin interaction
ENSG00000125812	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1056394	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11087428	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11905630	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1419005	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1419006	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1419009	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1419010	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16985308	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1936013	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2051093	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2144381	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2224074	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2236022	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2249943	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2251145	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2252824	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2275787	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2275788	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2281429	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424528	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2424530	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424531	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2424532	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424534	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424535	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424536	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424537	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424539	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424540	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424541	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424544	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424545	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424546	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424548	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424549	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424550	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424551	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424552	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424554	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424556	0.87[EUR][1000 genomes]
rs2424557	0.86[EUR][1000 genomes]
rs3746734	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4813490	0.84[EUR][1000 genomes]
rs4813491	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4813493	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4813495	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4815199	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815203	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048778	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6076057	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6076059	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6076071	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076073	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083083	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6083084	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6083085	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6083087	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6083088	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6083092	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083095	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083099	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6083100	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6083104	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6083110	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083111	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6083119	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6114085	0.87[EUR][1000 genomes]
rs6132604	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6132607	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6132612	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137905	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137908	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137909	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137922	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137924	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6137934	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6137940	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6137949	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7269627	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs743023	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743024	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs761726	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7988	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8183442	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs743022	NAPB	Cis_1M	lymphoblastoid	RTeQTL
rs743022	NAPB	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23399800-23402600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr20:23400000-23401200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr20:23400000-23401200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr20:23400000-23401200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr20:23400000-23402600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr20:23400200-23401200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:23400200-23402400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr20:23400200-23402400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr20:23400200-23402400	Active TSS	HSMMtube	muscle
10	chr20:23400200-23402600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:23400200-23402600	Active TSS	K562	blood
12	chr20:23400400-23401200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr20:23400400-23401200	Flanking Active TSS	Fetal Brain Male	brain
14	chr20:23400400-23401400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr20:23400400-23401800	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr20:23400400-23402200	Active TSS	Placenta	Placenta
17	chr20:23400400-23402200	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr20:23400400-23402200	Active TSS	GM12878-XiMat	blood
19	chr20:23400400-23402400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr20:23400400-23402400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr20:23400400-23402400	Active TSS	Aorta	Aorta
22	chr20:23400400-23402400	Active TSS	Colon Smooth Muscle	Colon
23	chr20:23400400-23402400	Active TSS	Fetal Muscle Leg	muscle
24	chr20:23400400-23402400	Active TSS	Lung	lung
25	chr20:23400400-23402400	Active TSS	Ovary	ovary
26	chr20:23400400-23402600	Active TSS	Colonic Mucosa	Colon
27	chr20:23400400-23402600	Active TSS	Fetal Muscle Trunk	muscle
28	chr20:23400400-23402600	Active TSS	Left Ventricle	heart
29	chr20:23400400-23402600	Active TSS	Right Atrium	heart
30	chr20:23400400-23402800	Active TSS	Stomach Smooth Muscle	stomach
31	chr20:23400600-23401200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr20:23400600-23401200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr20:23400600-23401200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:23400600-23401600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr20:23400600-23401800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr20:23400600-23402200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr20:23400600-23402200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr20:23400600-23402200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr20:23400600-23402200	Active TSS	Duodenum Mucosa	Duodenum
40	chr20:23400600-23402200	Active TSS	Fetal Intestine Small	intestine
41	chr20:23400600-23402200	Active TSS	Fetal Thymus	thymus
42	chr20:23400600-23402200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr20:23400600-23402200	Active TSS	HMEC	breast
44	chr20:23400600-23402200	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr20:23400600-23402200	Active TSS	NH-A	brain
46	chr20:23400600-23402200	Active TSS	NHDF-Ad	bronchial
47	chr20:23400600-23402400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr20:23400600-23402400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr20:23400600-23402400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr20:23400600-23402400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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