Variant report

Variant	rs12562424
Chromosome Location	chr1:171439783-171439784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171439240..171441819-chr1:171442351..171444442,2	MCF-7	breast:
2	chr1:171433462..171436122-chr1:171438720..171441622,2	K562	blood:
3	chr1:171438180..171441367-chr1:171442235..171445330,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10913017	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913119	0.81[AMR][1000 genomes]
rs10913149	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10913157	1.00[YRI][hapmap]
rs10913197	1.00[YRI][hapmap]
rs10913285	1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs10913292	0.81[AMR][1000 genomes]
rs12076841	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12080096	1.00[YRI][hapmap]
rs12564279	0.92[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12567152	1.00[YRI][hapmap]
rs2038043	0.89[YRI][hapmap]
rs2179882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207190	0.82[JPT][hapmap]
rs3204333	1.00[YRI][hapmap]
rs60014783	0.84[AMR][1000 genomes]
rs6669168	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6681173	0.84[AMR][1000 genomes]
rs6702038	0.84[AMR][1000 genomes]
rs72717840	0.84[AMR][1000 genomes]
rs7517178	1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs7521480	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171438000-171440800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:171439000-171440600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:171439400-171439800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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