Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29149736..29151785-chr12:29152335..29154917,2	MCF-7	breast:
2	chr12:28390490..28391044-chr12:29152019..29152825,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10743637	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10743641	0.88[EUR][1000 genomes]
rs10771470	0.88[EUR][1000 genomes]
rs10771471	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10771473	0.90[EUR][1000 genomes]
rs10771474	0.86[EUR][1000 genomes]
rs10771475	0.86[EUR][1000 genomes]
rs10771477	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs10771478	0.84[EUR][1000 genomes]
rs10843303	0.90[EUR][1000 genomes]
rs10843304	0.90[EUR][1000 genomes]
rs10843305	0.85[EUR][1000 genomes]
rs10843306	0.86[EUR][1000 genomes]
rs10843307	0.88[EUR][1000 genomes]
rs10843308	0.81[EUR][1000 genomes]
rs1344854	0.88[EUR][1000 genomes]
rs1344855	0.88[EUR][1000 genomes]
rs2117992	0.90[EUR][1000 genomes]
rs4141946	0.88[EUR][1000 genomes]
rs4471475	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930848	0.91[EUR][1000 genomes]
rs6487744	0.91[EUR][1000 genomes]
rs7955393	0.88[EUR][1000 genomes]
rs9300183	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9651838	RP11-996F15.2	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29149400-29153200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:29152600-29157000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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