Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118862531..118864605-chr12:118873789..118875606,2	MCF-7	breast:
2	chr12:118873972..118874726-chr12:119474831..119475363,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12581553	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1503770	0.89[EUR][1000 genomes]
rs17625679	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17625759	0.84[AFR][1000 genomes]
rs1971322	0.93[EUR][1000 genomes]
rs2062522	0.86[EUR][1000 genomes]
rs34365267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304821	0.84[EUR][1000 genomes]
rs4366521	0.93[EUR][1000 genomes]
rs55957752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237350	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs58833755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60840022	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7136004	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7311865	0.85[AFR][1000 genomes]
rs7316527	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7795	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7952833	0.93[EUR][1000 genomes]
rs7960344	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7966814	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970613	0.89[EUR][1000 genomes]
rs7974630	0.91[EUR][1000 genomes]
rs7980279	0.92[EUR][1000 genomes]
rs955134	0.82[AFR][1000 genomes];0.94[EUR][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	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118854600-118874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:118854800-118874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:118857000-118874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:118871200-118881800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:118873800-118874600	Enhancers	Left Ventricle	heart
6	chr12:118873800-118876000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:118874000-118874600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:118874000-118875800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:118874000-118876000	Enhancers	NHDF-Ad	bronchial
10	chr12:118874200-118874600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:118874200-118874600	Enhancers	Right Ventricle	heart
12	chr12:118874200-118874600	Enhancers	HSMMtube	muscle
13	chr12:118874200-118875200	Enhancers	HSMM	muscle

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