Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:25094138..25097137-chr14:25102005..25104386,2	K562	blood:

Variant related genes	Relation type
ENSG00000100453	Chromatin interaction

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

rs_ID	r²[population]
rs12878578	0.83[EUR][1000 genomes]
rs12881201	1.00[ASN][1000 genomes]
rs12884659	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896130	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273843	0.81[EUR][1000 genomes]
rs3088325	1.00[ASN][1000 genomes]
rs35240563	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35328996	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35779777	1.00[ASN][1000 genomes]
rs35915454	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4983020	1.00[ASN][1000 genomes]
rs6573880	0.87[EUR][1000 genomes]
rs66505306	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140465	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71405867	0.80[EUR][1000 genomes]
rs7153040	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156640	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161505	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679396	1.00[ASN][1000 genomes]
rs8010409	0.92[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv510631	chr14:25045183-25172311	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv901502	chr14:25074711-25101706	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25094000-25095600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:25094000-25099600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:25094000-25100400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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