Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100935867..100940254-chr2:100962502..100969736,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

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

rs_ID	r²[population]
rs11885939	1.00[AMR][1000 genomes]
rs11898693	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11903467	1.00[AMR][1000 genomes]
rs55977934	1.00[AMR][1000 genomes]
rs56014037	1.00[AMR][1000 genomes]
rs56716378	1.00[EUR][1000 genomes]
rs57214256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57227647	1.00[EUR][1000 genomes]
rs58873938	1.00[AMR][1000 genomes]
rs59148684	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59438692	1.00[AMR][1000 genomes]
rs60621957	1.00[EUR][1000 genomes]
rs60926197	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6708846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6711900	1.00[AMR][1000 genomes]
rs72970605	1.00[AMR][1000 genomes]
rs72970614	1.00[AMR][1000 genomes]
rs7564817	1.00[AMR][1000 genomes]
rs7566156	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7571711	1.00[AMR][1000 genomes]
rs7598340	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7608701	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr2:100956800-100967200	Weak transcription	Gastric	stomach
2	chr2:100963400-100966800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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