Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:93214410..93215230-chr1:93283967..93284512,2	MCF-7	breast:
2	chr1:93216027..93217718-chr1:93282953..93285543,2	MCF-7	breast:
3	chr1:93282610..93284892-chr1:93288491..93290584,2	K562	blood:
4	chr1:93282322..93284805-chr1:93286517..93288170,2	K562	blood:
5	chr1:93214256..93215505-chr1:93283637..93284517,3	K562	blood:
6	chr1:93214232..93215219-chr1:93283675..93284503,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234202	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11164793	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164794	1.00[EUR][1000 genomes]
rs11164795	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164797	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164802	1.00[EUR][1000 genomes]
rs11164817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164852	1.00[AMR][1000 genomes]
rs11164859	1.00[AMR][1000 genomes]
rs12059319	1.00[EUR][1000 genomes]
rs12061768	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12064459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066223	1.00[AMR][1000 genomes]
rs12069560	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074805	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12077455	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078923	1.00[EUR][1000 genomes]
rs12082513	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084062	1.00[EUR][1000 genomes]
rs12084412	1.00[EUR][1000 genomes]
rs12091803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17271666	1.00[EUR][1000 genomes]
rs57115390	1.00[EUR][1000 genomes]
rs6700752	1.00[EUR][1000 genomes]
rs72968072	1.00[EUR][1000 genomes]
rs72968080	1.00[EUR][1000 genomes]
rs72968097	1.00[EUR][1000 genomes]
rs72969937	1.00[EUR][1000 genomes]
rs72969957	1.00[EUR][1000 genomes]
rs72969976	1.00[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93284000-93285600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:93284000-93285600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:93284000-93286200	Weak transcription	K562	blood
4	chr1:93284000-93287600	Weak transcription	Placenta	Placenta
5	chr1:93284000-93288600	Weak transcription	Stomach Mucosa	stomach
6	chr1:93284200-93285600	Weak transcription	HepG2	liver
7	chr1:93284200-93285800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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