Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73261065..73262566-chr15:73288942..73290715,2	MCF-7	breast:
2	chr15:73276450..73278118-chr15:73289392..73291253,2	MCF-7	breast:

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

rs_ID	r²[population]
rs11854504	0.83[EUR][1000 genomes]
rs12324130	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12904681	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28437572	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496484	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28625503	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661567	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28687436	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28687996	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28764203	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28888396	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7171947	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7172316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172629	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7174900	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038862	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920504	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9920548	0.94[ASN][1000 genomes]
rs9920701	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921028	0.97[AFR][1000 genomes];0.94[ASN][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	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv482421	chr15:73279141-73426897	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73284000-73294800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr15:73285000-73292400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:73287400-73292600	Weak transcription	Aorta	Aorta
4	chr15:73287600-73292600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:73288200-73291400	Weak transcription	Fetal Intestine Small	intestine
6	chr15:73288200-73292200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:73288600-73291400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:73288800-73290800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr15:73289200-73293600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:73289600-73292600	Enhancers	Stomach Mucosa	stomach
11	chr15:73289800-73290800	Weak transcription	Fetal Lung	lung
12	chr15:73290200-73290800	Enhancers	NHEK	skin
13	chr15:73290200-73291400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:73290200-73291600	Enhancers	HMEC	breast
15	chr15:73290200-73292200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:73290400-73292200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:73290400-73293800	Enhancers	Fetal Brain Male	brain
18	chr15:73290600-73291200	Enhancers	Rectal Mucosa Donor 31	rectum

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