Variant report

Variant	rs12282578
Chromosome Location	chr11:109139161-109139162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:109139139-109139394	MCF10A-Er-Src	breast:	n/a	chr11:109139271-109139282
2	STAT3	chr11:109139107-109139420	MCF10A-Er-Src	breast:	n/a	chr11:109139271-109139282

Variant related genes	Relation type
ENSG00000264997	TF binding region

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

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

rs_ID	r²[population]
rs10047461	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11212973	0.86[EUR][1000 genomes]
rs11213005	0.83[ASN][1000 genomes]
rs11213006	0.83[ASN][1000 genomes]
rs11213011	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11213020	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11213021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11213022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11500820	0.86[EUR][1000 genomes]
rs11501030	0.86[EUR][1000 genomes]
rs11501032	0.96[ASN][1000 genomes]
rs12273587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274062	0.86[ASN][1000 genomes]
rs12274450	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12278048	0.86[EUR][1000 genomes]
rs12278123	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12278419	0.86[EUR][1000 genomes]
rs12280688	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282239	0.97[ASN][1000 genomes]
rs12283341	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286661	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291774	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291996	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109316	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28493423	0.83[ASN][1000 genomes]
rs55719520	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59027900	1.00[EUR][1000 genomes]
rs59169120	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59771014	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60395902	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60455184	0.86[EUR][1000 genomes]
rs60528878	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60529773	0.86[EUR][1000 genomes]
rs60677425	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs60773539	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73549130	0.86[EUR][1000 genomes]
rs73549142	0.86[EUR][1000 genomes]
rs73549154	0.86[EUR][1000 genomes]
rs73550605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947836	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040650	chr11:108859584-109174553	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1053898	chr11:109075527-109140982	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1041669	chr11:109085822-109282528	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1851153	chr11:109097430-109156782	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:109137400-109139400	Enhancers	HMEC	breast
2	chr11:109137600-109139400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:109137800-109139400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:109138400-109146200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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