Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26088641..26091375-chr12:26093087..26096585,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1167547	0.82[ASN][1000 genomes]
rs12316290	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12423046	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12426577	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12815996	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824437	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12829418	0.82[AMR][1000 genomes]
rs1691897	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2634177	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28609105	0.80[AMR][1000 genomes]
rs34018514	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34088076	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34156146	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34451983	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34590162	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34698110	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35586319	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35594340	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67602619	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs706513	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs706516	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs853654	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs903641	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1035319	chr12:26020667-26097148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26095000	Weak transcription	NHDF-Ad	bronchial
3	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:26090200-26110200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:26090400-26107800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:26091000-26107000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:26091400-26110000	Weak transcription	Psoas Muscle	Psoas
8	chr12:26091800-26095600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:26092000-26110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:26092400-26095600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:26092400-26108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:26092800-26095400	Weak transcription	Placenta	Placenta
13	chr12:26092800-26096200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:26092800-26109400	Weak transcription	Ovary	ovary
15	chr12:26093400-26110400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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