Variant report

Variant	rs1423471
Chromosome Location	chr5:59777561-59777562
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10514893	1.00[CEU][hapmap]
rs10514894	1.00[CEU][hapmap]
rs10939848	0.98[ASN][1000 genomes]
rs1423473	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.99[ASN][1000 genomes]
rs16877896	1.00[CEU][hapmap]
rs16877898	1.00[CEU][hapmap]
rs16877901	1.00[CEU][hapmap]
rs16877933	1.00[CEU][hapmap]
rs16877936	1.00[CEU][hapmap]
rs16877964	1.00[CEU][hapmap]
rs16877967	1.00[CEU][hapmap]
rs16877993	0.91[CHB][hapmap]
rs16878035	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.84[EUR][1000 genomes]
rs16878037	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs16878086	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.84[EUR][1000 genomes]
rs16878104	1.00[CEU][hapmap];0.99[ASN][1000 genomes]
rs16878106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16878108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17326404	1.00[CEU][hapmap]
rs17378750	1.00[CEU][hapmap]
rs1862589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2409102	0.98[ASN][1000 genomes]
rs3763059	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4090603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4130444	1.00[CEU][hapmap]
rs4580738	1.00[CEU][hapmap]
rs55737169	0.98[ASN][1000 genomes]
rs56151644	0.84[EUR][1000 genomes]
rs56217581	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58376959	0.84[EUR][1000 genomes]
rs58891299	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59313902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60104228	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60257457	0.98[ASN][1000 genomes]
rs61166140	0.95[ASN][1000 genomes]
rs61379877	0.98[ASN][1000 genomes]
rs6449471	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6864442	0.92[CHB][hapmap];0.80[CHD][hapmap]
rs6878429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6887545	0.90[CHB][hapmap]
rs6887925	0.92[CHB][hapmap]
rs6891858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs73108666	0.97[ASN][1000 genomes]
rs73108670	0.98[ASN][1000 genomes]
rs73108674	0.98[ASN][1000 genomes]
rs73759052	0.84[EUR][1000 genomes]
rs73759053	0.84[EUR][1000 genomes]
rs7702188	1.00[CEU][hapmap]
rs7702474	1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs7705194	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.99[ASN][1000 genomes]
rs7712662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7723861	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7725629	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs7734108	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.98[ASN][1000 genomes]
rs7737086	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv598293	chr5:59722882-59777561	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59741800-59783200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:59752400-59778400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:59767200-59789000	Weak transcription	Primary B cells from cord blood	blood
4	chr5:59776000-59777800	Weak transcription	HepG2	liver
5	chr5:59777200-59777600	Active TSS	Aorta	Aorta

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