Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42381754..42384165-chr12:42384575..42386988,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11181316	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181323	1.00[AMR][1000 genomes]
rs11181352	1.00[AMR][1000 genomes]
rs11181358	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs11181365	1.00[AMR][1000 genomes]
rs12299325	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300748	1.00[AMR][1000 genomes]
rs12310121	1.00[AMR][1000 genomes]
rs12310800	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs12311173	1.00[AMR][1000 genomes]
rs12312552	1.00[ASW][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs12319636	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320539	0.89[YRI][hapmap]
rs12322282	1.00[AMR][1000 genomes]
rs12322316	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs12322344	1.00[AMR][1000 genomes]
rs12322394	1.00[AMR][1000 genomes]
rs28431054	1.00[AMR][1000 genomes]
rs28599887	1.00[AMR][1000 genomes]
rs58977672	1.00[AMR][1000 genomes]
rs61023006	1.00[AMR][1000 genomes]
rs7974036	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:42381200-42383000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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