Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:50158794..50160929-chr5:50163393..50166084,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10805506	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10940613	0.84[ASN][1000 genomes]
rs12523135	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12657116	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12658921	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12659587	0.84[ASN][1000 genomes]
rs13162201	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13162346	0.93[EUR][1000 genomes]
rs13177246	0.84[ASN][1000 genomes]
rs1423227	0.81[ASN][1000 genomes]
rs2289879	0.84[ASN][1000 genomes]
rs2289880	0.84[ASN][1000 genomes]
rs250216	0.84[ASN][1000 genomes]
rs35192063	0.84[ASN][1000 genomes]
rs35477295	0.84[ASN][1000 genomes]
rs35894462	0.84[ASN][1000 genomes]
rs4866019	0.84[ASN][1000 genomes]
rs4866020	0.84[ASN][1000 genomes]
rs59135537	0.93[ASN][1000 genomes]
rs71615994	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50163600-50165200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

Quick Search: