Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221782617..221784755-chr1:221788045..221789610,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10449304	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11118800	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11803842	0.90[AMR][1000 genomes]
rs12118810	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12134883	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12136282	0.81[AMR][1000 genomes]
rs12136283	0.81[AMR][1000 genomes]
rs12136513	0.83[AMR][1000 genomes]
rs12142693	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12728570	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12748524	0.84[AFR][1000 genomes]
rs12753128	0.84[AFR][1000 genomes]
rs12758057	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1879068	0.80[AFR][1000 genomes]
rs2095730	0.86[CHB][hapmap]
rs2176690	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2378461	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4261126	0.81[ASN][1000 genomes]
rs6677071	0.80[AFR][1000 genomes]
rs67079790	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72734740	0.82[ASN][1000 genomes]
rs7540426	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 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	chr1:221786200-221791800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221786200-221794200	Weak transcription	Psoas Muscle	Psoas
3	chr1:221789000-221791400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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