Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126104684..126109670-chr5:126109839..126114293,5	MCF-7	breast:
2	chr5:126103041..126108565-chr5:126110656..126115993,14	K562	blood:

Variant related genes	Relation type
ENSG00000251072	Chromatin interaction
ENSG00000113368	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11241908	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11241910	0.82[ASN][1000 genomes]
rs11741648	0.84[ASN][1000 genomes]
rs11748382	0.91[EUR][1000 genomes]
rs12523041	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13176550	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13181450	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17598783	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2036847	0.82[ASN][1000 genomes]
rs34433938	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35091677	0.83[ASN][1000 genomes]
rs35137067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35500127	0.84[ASN][1000 genomes]
rs35991959	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62391707	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595735	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6595736	0.85[ASN][1000 genomes]
rs6595738	0.82[ASN][1000 genomes]
rs6873780	0.82[ASN][1000 genomes]
rs72798244	0.82[ASN][1000 genomes]
rs7704384	0.81[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	chr5:126102400-126111200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:126104600-126105800	Enhancers	GM12878-XiMat	blood

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