Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26357801..26359384-chr12:26374632..26376428,2	K562	blood:
2	chr12:26372294..26374868-chr12:26375069..26377161,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10842693	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12422262	0.87[ASN][1000 genomes]
rs12423472	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12424240	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2291140	0.91[ASN][1000 genomes]
rs36034234	0.91[ASN][1000 genomes]
rs4963653	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4963656	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4963972	0.91[ASN][1000 genomes]
rs4963973	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59085537	0.92[ASN][1000 genomes]
rs61914487	0.92[ASN][1000 genomes]
rs73090874	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73295081	0.81[AFR][1000 genomes]
rs765071	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7955562	0.83[AFR][1000 genomes]
rs7955569	0.80[AFR][1000 genomes]
rs7971293	0.84[AFR][1000 genomes]
rs9214	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9850	0.80[EUR][1000 genomes];0.91[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	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv1840338	chr12:26367307-26390319	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26358600-26379000	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:26359200-26379600	Weak transcription	Aorta	Aorta
3	chr12:26359600-26379000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:26365000-26377400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:26366000-26379400	Weak transcription	Ovary	ovary
6	chr12:26366600-26390600	Weak transcription	HSMMtube	muscle
7	chr12:26367400-26379000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:26372200-26379200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:26372400-26378200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:26373200-26377600	Weak transcription	Brain Substantia Nigra	brain
11	chr12:26373200-26378600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:26373600-26379000	Weak transcription	HMEC	breast
13	chr12:26373800-26379000	Weak transcription	Right Atrium	heart
14	chr12:26374200-26378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:26374800-26379200	Weak transcription	Fetal Muscle Trunk	muscle

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