Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104104758..104106401-chr12:104109260..104111411,2	MCF-7	breast:
2	chr12:104109903..104111815-chr12:104233506..104235290,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10778281	0.96[ASN][1000 genomes]
rs10778283	0.96[ASN][1000 genomes]
rs10861078	1.00[ASN][1000 genomes]
rs10861080	0.93[ASN][1000 genomes]
rs10861081	0.93[ASN][1000 genomes]
rs10861083	0.96[ASN][1000 genomes]
rs11111733	0.93[ASN][1000 genomes]
rs11111735	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12300983	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12370734	0.93[ASN][1000 genomes]
rs12424999	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12425719	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17034433	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034436	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2270485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2270486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6539099	1.00[ASN][1000 genomes]
rs6539100	0.96[ASN][1000 genomes]
rs73189895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73189900	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73189901	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192004	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73192005	0.93[AMR][1000 genomes]
rs7975156	1.00[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	nsv899479	chr12:104092996-104138918	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104104400-104111000	Weak transcription	Spleen	Spleen
2	chr12:104110200-104111600	Weak transcription	Left Ventricle	heart

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