Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126951040..126953298-chr5:126955534..126958125,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1031847	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11743384	0.97[EUR][1000 genomes]
rs11746839	0.97[EUR][1000 genomes]
rs11746912	0.97[EUR][1000 genomes]
rs12188818	0.97[EUR][1000 genomes]
rs13154759	0.90[EUR][1000 genomes]
rs13166202	0.97[EUR][1000 genomes]
rs13175595	0.82[AMR][1000 genomes]
rs13190411	0.93[EUR][1000 genomes]
rs17605653	0.93[EUR][1000 genomes]
rs28527369	0.80[AMR][1000 genomes]
rs34700780	0.97[EUR][1000 genomes]
rs35111054	0.93[EUR][1000 genomes]
rs35376602	0.97[EUR][1000 genomes]
rs55681581	0.80[AMR][1000 genomes]
rs6595781	0.97[EUR][1000 genomes]
rs6595782	0.92[ASN][1000 genomes]
rs6595784	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6870347	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6876031	0.97[EUR][1000 genomes]
rs72794209	0.97[EUR][1000 genomes]
rs73337177	0.93[EUR][1000 genomes]
rs73337180	0.96[ASN][1000 genomes]
rs7705383	0.92[ASN][1000 genomes]
rs7723560	0.97[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	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	nsv519906	chr5:126943293-126955918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126944200-126951400	Weak transcription	NHEK	skin
2	chr5:126944600-126951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:126944600-126960400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:126947600-126962000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:126948800-126951600	Weak transcription	HMEC	breast
6	chr5:126949000-126951400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:126949000-126953800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:126949200-126952000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:126951000-126952400	Enhancers	Colon Smooth Muscle	Colon
10	chr5:126951200-126951600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:126951200-126952600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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