Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:16463566..16466050-chr21:16467174..16468787,2	MCF-7	breast:
2	chr21:16437156..16439925-chr21:16462415..16465337,2	MCF-7	breast:
3	chr21:16436499..16439825-chr21:16461249..16466318,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236471	Chromatin interaction
ENSG00000180530	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1003427	0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1005526	0.93[EUR][1000 genomes]
rs1022450	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1556286	0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2026849	0.81[EUR][1000 genomes]
rs2150369	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403877	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823040	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823049	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823054	0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2823056	0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2823061	0.81[EUR][1000 genomes]
rs2823062	0.81[EUR][1000 genomes]
rs2823065	0.81[EUR][1000 genomes]
rs4816486	0.81[EUR][1000 genomes]
rs4817650	0.81[EUR][1000 genomes]
rs7282412	0.80[EUR][1000 genomes]
rs760404	0.93[EUR][1000 genomes]
rs9977308	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978683	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16465000-16465400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr21:16465000-16466600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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