Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126103041..126108565-chr5:126110656..126115993,14	K562	blood:
2	chr5:126100391..126104109-chr5:126106593..126109769,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12515255	0.92[ASN][1000 genomes]
rs12518228	0.92[ASN][1000 genomes]
rs12518331	0.92[ASN][1000 genomes]
rs17165351	0.92[ASN][1000 genomes]
rs3749830	0.92[ASN][1000 genomes]
rs3812062	1.00[ASN][1000 genomes]
rs55699774	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56121757	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56366269	1.00[ASN][1000 genomes]
rs57778143	0.82[EUR][1000 genomes]
rs59395878	0.92[ASN][1000 genomes]
rs60107783	0.92[ASN][1000 genomes]
rs60147760	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60818126	0.92[ASN][1000 genomes]
rs61074663	0.92[ASN][1000 genomes]
rs72780207	0.92[ASN][1000 genomes]
rs72780213	0.82[EUR][1000 genomes]
rs72780278	0.81[EUR][1000 genomes]
rs72798238	0.92[ASN][1000 genomes]
rs72798245	1.00[ASN][1000 genomes]
rs72798246	0.92[ASN][1000 genomes]
rs72798247	0.92[ASN][1000 genomes]
rs72798249	0.92[ASN][1000 genomes]
rs72798253	0.92[ASN][1000 genomes]
rs72798255	0.92[ASN][1000 genomes]
rs7447810	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr5:126099400-126104600	Weak transcription	GM12878-XiMat	blood
2	chr5:126102400-126111200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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