Variant report

Variant	rs2281430
Chromosome Location	chr20:23399314-23399315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23398847..23400771-chr20:23575954..23577563,2	K562	blood:
2	chr20:23328647..23330996-chr20:23399236..23401652,2	K562	blood:
3	chr20:23388261..23390849-chr20:23399031..23401935,2	K562	blood:
4	chr20:23329969..23332172-chr20:23397357..23400291,2	MCF-7	breast:
5	chr20:23396602..23399961-chr20:23400135..23403315,4	K562	blood:

Variant related genes	Relation type
ENSG00000132661	Chromatin interaction
ENSG00000234832	Chromatin interaction
ENSG00000125814	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1003417	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1419008	0.82[ASN][1000 genomes]
rs2251145	0.81[AFR][1000 genomes]
rs2405231	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2424529	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2424533	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2424538	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2424543	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2424544	0.81[AFR][1000 genomes]
rs2424545	0.81[AFR][1000 genomes]
rs2424547	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2424549	0.81[AFR][1000 genomes]
rs2424550	0.81[AFR][1000 genomes]
rs2424551	0.81[AFR][1000 genomes]
rs2424553	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4813495	0.81[AFR][1000 genomes]
rs6048777	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6048797	0.85[EUR][1000 genomes]
rs6076065	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6083105	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6083106	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6132607	0.81[AFR][1000 genomes]
rs6137934	0.81[AFR][1000 genomes]
rs6137940	0.81[AFR][1000 genomes]
rs743021	0.82[AMR][1000 genomes]
rs999072	0.83[AMR][1000 genomes];0.88[EUR][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
rs2281430	NAPB	cis	Artery Tibial	GTEx
rs2281430	NAPB	cis	Esophagus Muscularis	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23354400-23399800	Weak transcription	Hela-S3	cervix
2	chr20:23361200-23399600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:23372800-23400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:23375600-23400000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr20:23375800-23400000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr20:23375800-23400200	Weak transcription	Fetal Brain Male	brain
7	chr20:23376600-23400400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr20:23378200-23400000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:23378400-23399800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr20:23378800-23399800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr20:23379000-23400000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr20:23379000-23400200	Weak transcription	Primary B cells from cord blood	blood
13	chr20:23379000-23400400	Weak transcription	Brain Substantia Nigra	brain
14	chr20:23379200-23400000	Weak transcription	HUVEC	blood vessel
15	chr20:23379200-23400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:23380800-23400000	Weak transcription	NH-A	brain
17	chr20:23382000-23400200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:23382200-23400200	Weak transcription	A549	lung
19	chr20:23383000-23399800	Weak transcription	Fetal Intestine Small	intestine
20	chr20:23383000-23400400	Weak transcription	Thymus	Thymus
21	chr20:23383200-23400000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr20:23383600-23400000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr20:23383600-23400400	Weak transcription	Fetal Thymus	thymus
24	chr20:23385200-23400400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr20:23385400-23400400	Weak transcription	Aorta	Aorta
26	chr20:23387000-23400400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr20:23388800-23399800	Weak transcription	Small Intestine	intestine
28	chr20:23389200-23400400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr20:23389600-23400200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr20:23390800-23400400	Weak transcription	Lung	lung
31	chr20:23391200-23400400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr20:23391200-23400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr20:23391200-23400800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr20:23391400-23400400	Weak transcription	Placenta	Placenta
35	chr20:23392400-23400400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:23392800-23400400	Weak transcription	Right Ventricle	heart
37	chr20:23393000-23399600	Weak transcription	Brain Anterior Caudate	brain
38	chr20:23393000-23399800	Weak transcription	HSMM	muscle
39	chr20:23393000-23399800	Weak transcription	NHLF	lung
40	chr20:23393000-23400400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr20:23393200-23399600	Weak transcription	Osteobl	bone
42	chr20:23393600-23399600	Weak transcription	Liver	Liver
43	chr20:23393800-23400000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr20:23393800-23400400	Weak transcription	Right Atrium	heart
45	chr20:23395000-23401000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr20:23395800-23399400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr20:23396400-23400000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr20:23396400-23400600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr20:23396600-23400600	Weak transcription	Esophagus	oesophagus
50	chr20:23396800-23400000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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