Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:23229817..23231730-chr3:23239013..23241977,2	MCF-7	breast:
2	chr3:23237186..23240059-chr3:23244524..23247449,2	K562	blood:
3	chr3:23238476..23240188-chr3:23244080..23245921,2	MCF-7	breast:
4	chr3:23239501..23241404-chr3:23243092..23246536,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182247	Chromatin interaction
ENSG00000233153	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1013460	0.80[ASN][1000 genomes]
rs1032499	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714151	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11721203	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11916627	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012812	0.80[ASN][1000 genomes]
rs28712166	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3922891	0.88[ASN][1000 genomes]
rs4282081	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4318574	0.84[ASN][1000 genomes]
rs4432667	0.88[ASN][1000 genomes]
rs4561853	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4858483	0.81[ASN][1000 genomes]
rs6550744	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7371852	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7374182	0.84[ASN][1000 genomes]
rs9310714	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9310715	0.80[ASN][1000 genomes]
rs9850944	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9875663	0.99[ASN][1000 genomes]
rs9881332	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][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	nsv999882	chr3:23121533-23257718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23237600-23242800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:23237800-23243800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:23237800-23244000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:23238000-23240000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:23238000-23243800	Weak transcription	Aorta	Aorta
6	chr3:23239600-23241200	Enhancers	Adipose Nuclei	Adipose

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