Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40833772..40836669-chr5:40869821..40875738,8	MCF-7	breast:
2	chr5:40833884..40836712-chr5:40873210..40875645,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction

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

rs_ID	r²[population]
rs11744119	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178929	0.81[ASN][1000 genomes]
rs1827364	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1910015	0.96[ASN][1000 genomes]
rs2122570	0.91[ASN][1000 genomes]
rs2271709	0.91[ASN][1000 genomes]
rs2675979	0.95[ASN][1000 genomes]
rs2675981	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324062	0.81[ASN][1000 genomes]
rs324064	0.96[ASN][1000 genomes]
rs324070	0.92[ASN][1000 genomes]
rs324071	0.90[ASN][1000 genomes]
rs4360083	1.00[ASN][1000 genomes]
rs4957358	1.00[ASN][1000 genomes]
rs59027389	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6888489	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6890698	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6895317	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73088503	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73088510	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7702096	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7715597	1.00[ASN][1000 genomes]
rs7725655	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	esv3444044	chr5:40860244-40888483	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40872000-40876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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