Variant report

Variant	rs60131526
Chromosome Location	chr12:60455367-60455368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60448484..60450647-chr12:60452739..60455616,2	K562	blood:
2	chr12:60454406..60456057-chr12:60465200..60468132,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12305114	1.00[ASN][1000 genomes]
rs12306523	1.00[ASN][1000 genomes]
rs12578393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581498	1.00[ASN][1000 genomes]
rs3912930	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55670123	0.89[ASN][1000 genomes]
rs55731614	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810530	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56150658	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56370880	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58246390	1.00[ASN][1000 genomes]
rs58739436	0.89[ASN][1000 genomes]
rs60259520	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7135268	1.00[ASN][1000 genomes]
rs73106125	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73106138	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73106200	1.00[EUR][1000 genomes]
rs73108215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73108224	0.89[ASN][1000 genomes]
rs73108227	0.89[ASN][1000 genomes]
rs73108230	0.89[ASN][1000 genomes]
rs73108233	0.89[ASN][1000 genomes]
rs73108234	0.89[ASN][1000 genomes]
rs73108239	0.89[ASN][1000 genomes]
rs73108244	0.89[ASN][1000 genomes]
rs73108245	0.89[ASN][1000 genomes]
rs73109750	0.89[ASN][1000 genomes]
rs73109762	0.89[ASN][1000 genomes]
rs73109768	0.89[ASN][1000 genomes]
rs73111632	0.89[ASN][1000 genomes]
rs73111634	0.89[ASN][1000 genomes]
rs73111640	0.89[ASN][1000 genomes]
rs73111650	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73111657	0.89[ASN][1000 genomes]
rs73121558	1.00[EUR][1000 genomes]
rs73356679	0.89[ASN][1000 genomes]
rs73356698	1.00[ASN][1000 genomes]
rs73367172	1.00[ASN][1000 genomes]
rs73367179	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv516042	chr12:60354307-60459370	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899136	chr12:60373244-60483607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv559103	chr12:60383069-60483607	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1048137	chr12:60432594-60515455	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:60454400-60464000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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