Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126967115..126969170-chr5:126970693..126972252,2	K562	blood:
2	chr5:126968983..126970774-chr5:127145512..127147247,2	K562	blood:

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

rs_ID	r²[population]
rs10041386	0.83[AMR][1000 genomes]
rs10041400	0.83[AMR][1000 genomes]
rs1031847	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11746839	0.80[EUR][1000 genomes]
rs13164325	0.93[EUR][1000 genomes]
rs13166202	0.80[EUR][1000 genomes]
rs13175595	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13182035	0.93[EUR][1000 genomes]
rs13183092	0.93[EUR][1000 genomes]
rs17164722	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28466271	0.88[AMR][1000 genomes]
rs28527369	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34700780	0.80[EUR][1000 genomes]
rs3851476	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55681581	0.90[AMR][1000 genomes]
rs6595782	0.92[ASN][1000 genomes]
rs6870347	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73337180	0.89[ASN][1000 genomes]
rs7705383	0.92[ASN][1000 genomes]
rs7722896	0.86[AMR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126968600-126970200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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