Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:223316003..223317893-chr1:223330550..223332878,2	K562	blood:
2	chr1:223314512..223320175-chr1:223328849..223336149,9	MCF-7	breast:
3	chr1:223318487..223320795-chr1:223328403..223334378,5	K562	blood:

Variant related genes	Relation type
ENSG00000236846	Chromatin interaction
ENSG00000187554	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12122451	0.94[ASN][1000 genomes]
rs1341986	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1640827	0.88[ASN][1000 genomes]
rs17609948	0.97[ASN][1000 genomes]
rs2353475	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2487835	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2883182	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34849527	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35442320	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35511158	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4140967	0.94[ASN][1000 genomes]
rs5744105	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5744113	0.84[EUR][1000 genomes]
rs5744129	0.81[EUR][1000 genomes]
rs61837564	0.97[ASN][1000 genomes]
rs61837576	0.94[ASN][1000 genomes]
rs723960	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72743863	0.97[ASN][1000 genomes]
rs72743873	0.92[ASN][1000 genomes]
rs72743881	0.81[ASN][1000 genomes]
rs851191	0.86[ASN][1000 genomes]
rs9442047	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9442048	0.99[AMR][1000 genomes];0.99[EUR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223327200-223334600	Weak transcription	Fetal Thymus	thymus
2	chr1:223329200-223338600	Weak transcription	Placenta	Placenta
3	chr1:223331200-223334600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:223331400-223333600	Weak transcription	Primary T cells from cord blood	blood

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