Variant report

Variant	rs1421985
Chromosome Location	chr5:167310427-167310428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10866614	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10866615	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11134476	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11134477	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11134478	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MKK][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11134479	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11738159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12189098	0.87[ASW][hapmap];0.85[LWK][hapmap];0.82[MKK][hapmap];0.88[AFR][1000 genomes]
rs12517071	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13172139	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13182072	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1363203	0.85[CEU][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1363205	0.81[AFR][1000 genomes]
rs1421978	0.81[CEU][hapmap]
rs1421980	0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1421981	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1421982	0.80[ASW][hapmap];0.95[LWK][hapmap];0.84[MKK][hapmap];0.83[AFR][1000 genomes]
rs1421987	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1421988	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477284	0.86[ASW][hapmap];0.84[CEU][hapmap];0.86[CHB][hapmap]
rs17069346	1.00[YRI][hapmap]
rs17434346	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs17512980	0.84[CEU][hapmap]
rs17526010	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1833563	0.91[ASN][1000 genomes]
rs2193981	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28547994	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2909798	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs32400	1.00[YRI][hapmap]
rs4869078	0.85[CEU][hapmap]
rs4869079	0.88[CEU][hapmap]
rs58669315	0.90[ASN][1000 genomes]
rs6875425	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7378687	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7379874	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7700480	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462511	chr5:167275087-167324809	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
2	nsv600254	chr5:167275087-167324809	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
3	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167266600-167326200	Weak transcription	HMEC	breast
2	chr5:167285600-167325600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:167298000-167311000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:167299200-167310600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:167300000-167311000	Weak transcription	Fetal Lung	lung
6	chr5:167300800-167310600	Strong transcription	NHEK	skin
7	chr5:167305800-167323600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:167306400-167326600	Weak transcription	HSMM	muscle
9	chr5:167308400-167311200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:167308600-167310800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:167310000-167310600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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