Variant report

Variant	rs2251145
Chromosome Location	chr20:23399998-23399999
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23336395..23338655-chr20:23399846..23402203,2	K562	blood:
2	chr20:23398847..23400771-chr20:23575954..23577563,2	K562	blood:
3	chr20:23331362..23333588-chr20:23399396..23402095,2	K562	blood:
4	chr20:23330877..23333588-chr20:23399396..23402604,5	K562	blood:
5	chr20:23328647..23330996-chr20:23399236..23401652,2	K562	blood:
6	chr20:23338809..23345308-chr20:23399768..23403114,12	K562	blood:
7	chr20:23388261..23390849-chr20:23399031..23401935,2	K562	blood:
8	chr20:23329969..23332172-chr20:23397357..23400291,2	MCF-7	breast:

No data

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

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1056394	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11087428	0.87[EUR][1000 genomes]
rs11905630	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1419005	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1419006	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1419009	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1419010	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16985308	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1936013	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2051093	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2144381	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2224074	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2236022	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2249943	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252824	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2275787	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2275788	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2281429	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281430	0.81[AFR][1000 genomes]
rs2424528	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2424530	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424531	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2424532	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424533	0.83[AFR][1000 genomes]
rs2424534	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424535	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2424536	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424537	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424538	0.83[AFR][1000 genomes]
rs2424539	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424540	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424546	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424547	0.86[AFR][1000 genomes]
rs2424548	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424552	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424553	0.83[AFR][1000 genomes]
rs2424554	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424556	0.87[EUR][1000 genomes]
rs2424557	0.87[EUR][1000 genomes]
rs3746734	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4813490	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4813491	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4813493	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4813495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815199	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4815203	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048778	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6076057	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6076059	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6076071	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6076073	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6083083	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083084	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083085	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083087	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6083088	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6083092	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6083095	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6083099	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6083100	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6083104	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083110	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083111	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083119	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114085	0.87[EUR][1000 genomes]
rs6132604	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6132607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132612	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6137905	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137908	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6137909	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6137922	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137924	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137949	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7269627	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs743022	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs743023	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs743024	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs761726	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7988	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8118688	0.82[ASN][1000 genomes]
rs8183442	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2251145	NAPB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23372800-23400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23375600-23400000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr20:23375800-23400000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr20:23375800-23400200	Weak transcription	Fetal Brain Male	brain
5	chr20:23376600-23400400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:23378200-23400000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:23379000-23400000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr20:23379000-23400200	Weak transcription	Primary B cells from cord blood	blood
9	chr20:23379000-23400400	Weak transcription	Brain Substantia Nigra	brain
10	chr20:23379200-23400000	Weak transcription	HUVEC	blood vessel
11	chr20:23379200-23400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr20:23380800-23400000	Weak transcription	NH-A	brain
13	chr20:23382000-23400200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:23382200-23400200	Weak transcription	A549	lung
15	chr20:23383000-23400400	Weak transcription	Thymus	Thymus
16	chr20:23383200-23400000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr20:23383600-23400000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr20:23383600-23400400	Weak transcription	Fetal Thymus	thymus
19	chr20:23385200-23400400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr20:23385400-23400400	Weak transcription	Aorta	Aorta
21	chr20:23387000-23400400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr20:23389200-23400400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr20:23389600-23400200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr20:23390800-23400400	Weak transcription	Lung	lung
25	chr20:23391200-23400400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr20:23391200-23400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr20:23391200-23400800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr20:23391400-23400400	Weak transcription	Placenta	Placenta
29	chr20:23392400-23400400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr20:23392800-23400400	Weak transcription	Right Ventricle	heart
31	chr20:23393000-23400400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr20:23393800-23400000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr20:23393800-23400400	Weak transcription	Right Atrium	heart
34	chr20:23395000-23401000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr20:23396400-23400000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr20:23396400-23400600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr20:23396600-23400600	Weak transcription	Esophagus	oesophagus
38	chr20:23396800-23400000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:23396800-23400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr20:23396800-23400400	Weak transcription	Ovary	ovary
41	chr20:23397000-23400000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr20:23397000-23400400	Weak transcription	Left Ventricle	heart
43	chr20:23397000-23400400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr20:23397000-23400800	Weak transcription	Pancreas	Pancrea
45	chr20:23397000-23401000	Weak transcription	Gastric	stomach
46	chr20:23397200-23400000	Weak transcription	K562	blood
47	chr20:23397400-23400400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr20:23398200-23400000	Enhancers	Primary T cells from cord blood	blood
49	chr20:23398200-23400000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr20:23398200-23400000	Enhancers	Skeletal Muscle Female	skeletal muscle

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