Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213019184..213021421-chr1:213029036..213031526,2	K562	blood:

Variant related genes	Relation type
ENSG00000198468	Chromatin interaction

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

rs_ID	r²[population]
rs1284850	0.97[EUR][1000 genomes]
rs1284857	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1284858	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1284859	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1284861	0.86[EUR][1000 genomes]
rs1692181	0.84[EUR][1000 genomes]
rs1692185	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1770775	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1770776	0.86[EUR][1000 genomes]
rs2252377	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2487265	0.86[EUR][1000 genomes]
rs2644546	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2644550	0.86[EUR][1000 genomes]
rs2792559	0.94[AMR][1000 genomes]
rs2940085	0.94[AMR][1000 genomes]
rs2994522	0.86[EUR][1000 genomes]
rs57046861	0.86[EUR][1000 genomes]
rs931591	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9430104	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9430105	0.86[EUR][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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr1:213020400-213028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:213020600-213021600	Enhancers	HepG2	liver

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