Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106230031..106232537-chr12:106246902..106249178,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11112783	1.00[EUR][1000 genomes]
rs11834687	1.00[EUR][1000 genomes]
rs12302856	1.00[EUR][1000 genomes]
rs1421437	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17037459	1.00[EUR][1000 genomes]
rs17037622	1.00[EUR][1000 genomes]
rs17037729	0.85[ASN][1000 genomes]
rs17037733	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17037736	1.00[EUR][1000 genomes]
rs17037741	1.00[EUR][1000 genomes]
rs17037742	1.00[EUR][1000 genomes]
rs17037756	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17037760	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17037763	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35997774	1.00[EUR][1000 genomes]
rs55817027	0.85[ASN][1000 genomes]
rs57275238	1.00[EUR][1000 genomes]
rs57321476	1.00[EUR][1000 genomes]
rs57454138	1.00[EUR][1000 genomes]
rs57687607	1.00[EUR][1000 genomes]
rs58650564	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60384264	1.00[EUR][1000 genomes]
rs60604017	1.00[EUR][1000 genomes]
rs718790	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7307022	1.00[EUR][1000 genomes]
rs73383202	1.00[EUR][1000 genomes]
rs73391241	1.00[EUR][1000 genomes]
rs7963779	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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
2	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106216800-106237600	Weak transcription	HSMMtube	muscle
2	chr12:106230000-106232600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:106230200-106243400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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