Variant report

Variant	rs228122
Chromosome Location	chr14:81334506-81334507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10133034	0.87[JPT][hapmap]
rs10135084	0.86[JPT][hapmap]
rs10137041	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10141970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10142753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10144692	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1016699	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs1038523	0.87[JPT][hapmap]
rs11625199	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11627934	0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1197467	0.87[JPT][hapmap]
rs1197474	0.87[JPT][hapmap]
rs12050151	0.80[JPT][hapmap]
rs12050342	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12050416	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs12433134	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs12434318	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs12437260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12896436	0.81[JPT][hapmap]
rs162171	0.87[JPT][hapmap]
rs162174	0.87[JPT][hapmap]
rs170595	0.87[JPT][hapmap]
rs170596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17111237	0.80[JPT][hapmap]
rs17111246	0.80[JPT][hapmap]
rs17111256	0.81[JPT][hapmap]
rs17615020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1863765	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2010847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2059719	0.81[JPT][hapmap]
rs2162547	0.81[JPT][hapmap]
rs228119	0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs228124	0.85[ASN][1000 genomes]
rs228126	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2284722	0.81[JPT][hapmap]
rs2288347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371420	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2371421	0.82[ASN][1000 genomes]
rs2556603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556604	0.82[ASN][1000 genomes]
rs2556606	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556607	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2556608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556612	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2556614	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2556615	0.84[ASN][1000 genomes]
rs2619661	0.87[JPT][hapmap]
rs28850656	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2888032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327423	0.87[JPT][hapmap]
rs327424	0.87[JPT][hapmap]
rs327428	0.87[JPT][hapmap]
rs327429	0.87[JPT][hapmap]
rs327434	0.87[JPT][hapmap]
rs327439	0.90[CHB][hapmap]
rs327452	0.87[JPT][hapmap]
rs327454	0.87[JPT][hapmap]
rs327464	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs327465	0.89[CHB][hapmap]
rs327477	0.90[CHB][hapmap]
rs328206	0.87[JPT][hapmap]
rs328212	0.87[JPT][hapmap]
rs328213	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs328239	0.89[CHB][hapmap]
rs4016442	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899779	0.84[ASN][1000 genomes]
rs4899780	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs4903943	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903944	0.84[ASN][1000 genomes]
rs4903945	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4903946	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903947	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4903949	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58699962	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574606	0.84[ASN][1000 genomes]
rs6574608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574609	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs6574610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7140452	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7147306	0.81[ASN][1000 genomes]
rs7150858	0.89[YRI][hapmap]
rs7156306	0.84[ASN][1000 genomes]
rs7156572	0.85[JPT][hapmap]
rs7157845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158936	0.87[JPT][hapmap]
rs722906	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7493314	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs759918	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs759919	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs768359	0.83[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs8008366	0.87[JPT][hapmap]
rs8010491	0.81[ASN][1000 genomes]
rs8016507	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8016601	0.80[CEU][hapmap]
rs8017949	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9323694	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:81316600-81338800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
4	chr14:81326200-81336400	Weak transcription	NHDF-Ad	bronchial
5	chr14:81326600-81339800	Weak transcription	Fetal Thymus	thymus
6	chr14:81329200-81359400	Weak transcription	HSMM	muscle
7	chr14:81330400-81350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:81331200-81344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:81332600-81344400	Weak transcription	Ovary	ovary
10	chr14:81332600-81345800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:81332800-81337800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:81332800-81344000	Weak transcription	Thymus	Thymus
13	chr14:81333000-81344600	Weak transcription	Aorta	Aorta
14	chr14:81334000-81335400	Weak transcription	NHEK	skin
15	chr14:81334000-81337400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:81334200-81335800	ZNF genes & repeats	Dnd41	blood
17	chr14:81334200-81335800	Weak transcription	HMEC	breast
18	chr14:81334400-81335000	ZNF genes & repeats	A549	lung

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