Variant report

Variant	rs10506691
Chromosome Location	chr12:74871466-74871467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74869489..74872190-chr12:74878705..74880923,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11180130	1.00[EUR][1000 genomes]
rs11180131	1.00[EUR][1000 genomes]
rs12301887	1.00[EUR][1000 genomes]
rs12302448	1.00[EUR][1000 genomes]
rs12304380	1.00[EUR][1000 genomes]
rs12305557	1.00[EUR][1000 genomes]
rs12307332	1.00[EUR][1000 genomes]
rs12309066	1.00[EUR][1000 genomes]
rs12309372	1.00[EUR][1000 genomes]
rs12315304	1.00[EUR][1000 genomes]
rs12319566	1.00[EUR][1000 genomes]
rs12320395	1.00[EUR][1000 genomes]
rs12322704	1.00[EUR][1000 genomes]
rs1493814	1.00[EUR][1000 genomes]
rs1493815	1.00[EUR][1000 genomes]
rs1493817	1.00[EUR][1000 genomes]
rs1522126	1.00[EUR][1000 genomes]
rs17113816	1.00[EUR][1000 genomes]
rs17113895	1.00[EUR][1000 genomes]
rs1982597	1.00[EUR][1000 genomes]
rs2641504	1.00[EUR][1000 genomes]
rs2641506	1.00[EUR][1000 genomes]
rs59771966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59917367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60316938	1.00[EUR][1000 genomes]
rs7133693	1.00[EUR][1000 genomes]
rs7315551	1.00[EUR][1000 genomes]
rs73350835	1.00[EUR][1000 genomes]
rs73350842	1.00[EUR][1000 genomes]
rs73350868	1.00[EUR][1000 genomes]
rs73350901	1.00[EUR][1000 genomes]
rs73351333	1.00[EUR][1000 genomes]
rs73351746	1.00[EUR][1000 genomes]
rs73352806	1.00[EUR][1000 genomes]
rs73352828	1.00[EUR][1000 genomes]
rs73355954	1.00[EUR][1000 genomes]
rs74105463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7955373	1.00[EUR][1000 genomes]
rs7961059	1.00[EUR][1000 genomes]
rs7973162	1.00[EUR][1000 genomes]
rs980785	1.00[EUR][1000 genomes]
rs9919749	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv899294	chr12:74843754-74906884	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv559414	chr12:74850206-74931349	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	nsv469474	chr12:74850683-74888100	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv559415	chr12:74850683-74888100	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv469475	chr12:74857957-74922723	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
13	nsv469476	chr12:74857957-74922723	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
14	nsv559416	chr12:74857957-74922723	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	nsv559417	chr12:74857957-74931349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74871000-74876400	Weak transcription	Liver	Liver
2	chr12:74871200-74871800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:74871400-74880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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