Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:50250054..50253595-chr5:50255178..50258744,3	K562	blood:
2	chr5:50254119..50256881-chr5:50262560..50265438,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250360	Chromatin interaction

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

rs_ID	r²[population]
rs10472053	0.80[ASN][1000 genomes]
rs10940613	0.94[ASN][1000 genomes]
rs12523135	0.83[ASN][1000 genomes]
rs12657116	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12658921	0.87[ASN][1000 genomes]
rs12659587	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13162201	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13175573	0.83[ASN][1000 genomes]
rs13177246	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1423227	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1545350	0.83[ASN][1000 genomes]
rs2289879	0.94[ASN][1000 genomes]
rs2289880	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs250216	0.94[ASN][1000 genomes]
rs34986858	0.83[EUR][1000 genomes]
rs35192063	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35477295	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35894462	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3843453	0.80[ASN][1000 genomes]
rs4866019	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4866020	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59135537	0.85[ASN][1000 genomes]
rs66947818	0.82[ASN][1000 genomes]
rs71615992	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs71615994	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830286	chr5:50165805-50374600	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50255400-50258400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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