Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112256656..112258346-chr5:112281067..112283424,2	MCF-7	breast:
2	chr5:112256150..112258006-chr5:112282214..112285129,2	K562	blood:

Variant related genes	Relation type
ENSG00000129625	Chromatin interaction

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

rs_ID	r²[population]
rs10447234	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10515450	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10515451	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515452	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11241186	0.80[EUR][1000 genomes]
rs12152818	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12152991	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12187307	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188113	1.00[ASN][1000 genomes]
rs17135215	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17553240	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56209573	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56315627	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56364425	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56398453	0.83[ASN][1000 genomes]
rs58304718	0.92[EUR][1000 genomes]
rs73789249	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73789251	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73789252	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73789253	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73789254	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112258400-112287400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112281800-112282400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:112281800-112282600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:112282000-112282400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:112282000-112282600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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