Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30290596..30292744-chr13:30306487..30308229,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12854608	0.88[ASN][1000 genomes]
rs1571255	0.81[ASN][1000 genomes]
rs2182778	0.94[ASN][1000 genomes]
rs34730463	0.94[ASN][1000 genomes]
rs4083609	0.81[AMR][1000 genomes]
rs4142339	0.84[AMR][1000 genomes]
rs4379924	0.81[ASN][1000 genomes]
rs4399408	0.81[AMR][1000 genomes]
rs4580011	1.00[ASN][1000 genomes]
rs4769773	0.84[AMR][1000 genomes]
rs58961964	0.81[AMR][1000 genomes]
rs59768871	1.00[ASN][1000 genomes]
rs61424636	0.94[ASN][1000 genomes]
rs6490427	0.84[AMR][1000 genomes]
rs6490428	0.84[AMR][1000 genomes]
rs7322158	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73444211	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74042382	0.94[ASN][1000 genomes]
rs74042383	0.94[ASN][1000 genomes]
rs74042387	0.94[ASN][1000 genomes]
rs74042388	0.94[ASN][1000 genomes]
rs74042389	0.94[ASN][1000 genomes]
rs74042390	0.94[ASN][1000 genomes]
rs74042392	0.94[ASN][1000 genomes]
rs74042393	0.94[ASN][1000 genomes]
rs7983788	0.84[AMR][1000 genomes]
rs8001320	0.84[AMR][1000 genomes]
rs912394	0.81[ASN][1000 genomes]
rs9508551	0.84[AMR][1000 genomes]
rs9550492	0.84[AMR][1000 genomes]
rs9551729	0.94[ASN][1000 genomes]
rs9551734	0.81[ASN][1000 genomes]
rs9579469	0.88[ASN][1000 genomes]
rs9579472	0.88[ASN][1000 genomes]
rs9788356	0.81[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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30305800-30310600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:30307000-30308000	Enhancers	NHEK	skin
3	chr13:30307200-30308000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:30307200-30308200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:30307200-30308200	Enhancers	Hela-S3	cervix
6	chr13:30307200-30308600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:30307200-30310200	Enhancers	GM12878-XiMat	blood
8	chr13:30307400-30308600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:30307600-30308000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr13:30307800-30312800	Weak transcription	Duodenum Mucosa	Duodenum

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