Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192777942..192779667-chr1:192814691..192816666,2	K562	blood:
2	chr1:192810321..192812755-chr1:192815600..192818106,2	K562	blood:

Variant related genes	Relation type
ENSG00000116741	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10489514	1.00[ASN][1000 genomes]
rs10921281	0.94[EUR][1000 genomes]
rs12076933	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087043	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091901	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231819	1.00[ASN][1000 genomes]
rs1625786	1.00[ASN][1000 genomes]
rs16834887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834924	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834941	1.00[EUR][1000 genomes]
rs16834945	0.88[EUR][1000 genomes]
rs1770915	1.00[ASN][1000 genomes]
rs1770918	1.00[ASN][1000 genomes]
rs1775687	1.00[ASN][1000 genomes]
rs1775688	1.00[ASN][1000 genomes]
rs1775689	1.00[ASN][1000 genomes]
rs1775690	1.00[ASN][1000 genomes]
rs1775691	1.00[ASN][1000 genomes]
rs1775693	1.00[ASN][1000 genomes]
rs2153083	1.00[ASN][1000 genomes]
rs60641679	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61394494	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6428139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661981	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700848	1.00[EUR][1000 genomes]
rs715422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514204	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523033	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530747	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542329	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192807200-192816000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:192810000-192816000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:192811400-192816000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:192812000-192816000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:192815600-192817400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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