Variant report

Variant	rs17537478
Chromosome Location	chr12:59423341-59423342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10506353	0.81[ASN][1000 genomes]
rs10735877	1.00[CHB][hapmap]
rs11831827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17121768	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17536158	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17618789	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17625922	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17626131	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17628225	0.83[ASN][1000 genomes]
rs4760146	0.85[ASN][1000 genomes]
rs55670466	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56042852	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56299412	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56376361	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59263143	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61934327	0.83[ASN][1000 genomes]
rs61934328	0.83[ASN][1000 genomes]
rs61934330	0.83[ASN][1000 genomes]
rs61934332	0.81[ASN][1000 genomes]
rs7134004	0.97[ASN][1000 genomes]
rs767773	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7955499	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs907344	0.91[ASN][1000 genomes]
rs9668093	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs978615	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559049	chr12:59359937-59436179	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:59417600-59430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:59419200-59426400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:59421400-59425200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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