Variant report

Variant	rs4460898
Chromosome Location	chr12:33174513-33174514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10844423	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844425	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10844430	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844433	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11052365	0.81[ASN][1000 genomes]
rs11052378	0.80[AFR][1000 genomes]
rs11052379	0.80[AFR][1000 genomes]
rs11052381	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052383	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052394	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052402	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11832561	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12227331	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12227500	0.89[EUR][1000 genomes]
rs12227524	0.92[EUR][1000 genomes]
rs12230100	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12231642	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12578358	0.92[EUR][1000 genomes]
rs12814889	0.89[EUR][1000 genomes]
rs1500057	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1500065	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1846634	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35273601	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36061762	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58643342	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7138816	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7138830	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7295550	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7295685	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7297914	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7298037	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7298039	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7299289	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7309901	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7313565	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7313567	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7313974	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7314555	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7315691	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1039909	chr12:33132909-33244419	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1053849	chr12:33132909-33279169	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv54683	chr12:33174513-33174520	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33172200-33175000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:33173800-33175000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:33173800-33175000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:33173800-33175000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:33173800-33175000	Enhancers	HMEC	breast
6	chr12:33174200-33174600	Enhancers	NHEK	skin
7	chr12:33174200-33175600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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