Variant report

Variant	rs60072946
Chromosome Location	chr12:67647480-67647481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67646945..67649211-chr12:67660475..67662984,3	MCF-7	breast:
2	chr12:67645432..67648249-chr12:67661887..67664789,2	MCF-7	breast:
3	chr12:67646762..67649274-chr12:67652316..67653916,2	MCF-7	breast:
4	chr12:67645363..67648050-chr12:67659780..67661877,2	MCF-7	breast:
5	chr12:67645820..67647792-chr12:67656045..67658081,2	K562	blood:

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction
ENSG00000237766	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10878598	0.95[ASN][1000 genomes]
rs11176668	0.96[ASN][1000 genomes]
rs11176669	1.00[ASN][1000 genomes]
rs11176670	1.00[ASN][1000 genomes]
rs11176673	1.00[ASN][1000 genomes]
rs11176686	0.95[ASN][1000 genomes]
rs11176689	0.95[ASN][1000 genomes]
rs11176703	0.95[ASN][1000 genomes]
rs11176704	0.95[ASN][1000 genomes]
rs11176705	0.95[ASN][1000 genomes]
rs11176707	0.95[ASN][1000 genomes]
rs11176711	0.91[ASN][1000 genomes]
rs12302564	0.95[ASN][1000 genomes]
rs12305377	0.95[ASN][1000 genomes]
rs12306657	0.95[ASN][1000 genomes]
rs12311150	0.91[ASN][1000 genomes]
rs12314146	0.95[ASN][1000 genomes]
rs3087577	0.95[ASN][1000 genomes]
rs3736630	1.00[ASN][1000 genomes]
rs55646172	1.00[ASN][1000 genomes]
rs55809526	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55809587	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55906716	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55978724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094563	0.91[AMR][1000 genomes]
rs56224819	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56728872	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58114937	1.00[ASN][1000 genomes]
rs58496439	1.00[AFR][1000 genomes]
rs60009568	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60077199	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60104343	0.95[ASN][1000 genomes]
rs60971316	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61195985	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61219299	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61281993	0.95[ASN][1000 genomes]
rs7137520	0.93[ASN][1000 genomes]
rs7296364	1.00[ASN][1000 genomes]
rs7298244	1.00[ASN][1000 genomes]
rs7307353	1.00[ASN][1000 genomes]
rs7312708	0.91[ASN][1000 genomes]
rs7954050	1.00[ASN][1000 genomes]
rs7976686	1.00[ASN][1000 genomes]
rs7978989	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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