Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:47984848..47987837-chr1:47992814..47995313,2	K562	blood:
2	chr1:47993055..47994390-chr1:48191590..48192525,3	MCF-7	breast:
3	chr1:47992495..47994617-chr1:47996687..47998251,2	K562	blood:
4	chr1:47993038..47993991-chr1:48191628..48192465,3	K562	blood:
5	chr1:47993084..47993940-chr1:48176283..48176934,3	MCF-7	breast:
6	chr1:47915749..47916276-chr1:47992947..47993816,2	MCF-7	breast:
7	chr1:47992992..47995157-chr1:48002196..48004633,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1024108	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11585530	0.92[EUR][1000 genomes]
rs11799997	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17103342	0.86[EUR][1000 genomes]
rs2102437	0.92[EUR][1000 genomes]
rs28493519	0.83[EUR][1000 genomes]
rs471608	0.93[EUR][1000 genomes]
rs478526	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs560540	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56404532	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs578335	0.93[EUR][1000 genomes]
rs59326446	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59865928	0.93[EUR][1000 genomes]
rs60503680	0.93[EUR][1000 genomes]
rs635710	0.93[EUR][1000 genomes]
rs6681140	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6688849	0.93[EUR][1000 genomes]
rs72904553	0.86[EUR][1000 genomes]
rs72904554	0.86[EUR][1000 genomes]
rs7531586	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7543243	0.87[EUR][1000 genomes]
rs822886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.93[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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:47991000-47993200	Weak transcription	Liver	Liver
2	chr1:47993000-47994800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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