Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172015930..172017600-chr2:172064388..172066439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10203397	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1035250	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10930459	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11674962	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11687843	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11887065	0.80[EUR][1000 genomes]
rs11887508	0.84[EUR][1000 genomes]
rs11893921	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11893993	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12473405	0.81[EUR][1000 genomes]
rs12614003	0.91[EUR][1000 genomes]
rs13004356	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17283355	0.83[EUR][1000 genomes]
rs4667676	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4667678	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4668372	0.80[EUR][1000 genomes]
rs4668373	0.91[EUR][1000 genomes]
rs4668374	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4668375	0.81[EUR][1000 genomes]
rs6433284	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6713640	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6724085	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7568175	0.80[EUR][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	nsv979348	chr2:172057884-172068984	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
2	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172054600-172066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:172063400-172065000	Weak transcription	K562	blood
3	chr2:172063800-172065200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:172064400-172065400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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