Variant report

Variant	rs12733601
Chromosome Location	chr1:216041451-216041452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10495007	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10864209	0.94[ASN][1000 genomes]
rs11120638	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs11120643	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11120659	1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs11120660	0.91[ASN][1000 genomes]
rs11120669	0.91[ASN][1000 genomes]
rs11120670	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11120675	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11120677	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12037735	0.90[ASN][1000 genomes]
rs12126127	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12126972	0.94[ASN][1000 genomes]
rs12130746	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs12136240	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12136954	1.00[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes]
rs1934426	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1934428	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs34726633	0.94[ASN][1000 genomes]
rs4520392	0.88[ASN][1000 genomes]
rs6658928	0.92[CEU][hapmap]
rs6664028	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs6669557	0.94[YRI][hapmap]
rs6691299	0.91[ASN][1000 genomes]
rs7514073	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7536020	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs7544464	0.92[CEU][hapmap]

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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv949671	chr1:215942740-216120815	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv832548	chr1:215987089-216175724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216039000-216042600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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