Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:213346530..213348548-chr2:213350642..213352540,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10178687	0.91[ASN][1000 genomes]
rs10180614	0.91[ASN][1000 genomes]
rs1384290	0.91[ASN][1000 genomes]
rs1384291	0.91[ASN][1000 genomes]
rs16848675	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848684	0.85[AFR][1000 genomes]
rs16848687	0.85[AFR][1000 genomes]
rs16848694	0.85[AFR][1000 genomes]
rs6735807	0.81[ASN][1000 genomes]
rs6752299	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063184	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063185	0.82[AFR][1000 genomes]
rs73063189	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73067068	0.85[AFR][1000 genomes]
rs73067070	0.85[AFR][1000 genomes]
rs73067072	0.85[AFR][1000 genomes]
rs73067077	0.85[AFR][1000 genomes]
rs73067081	0.85[AFR][1000 genomes]
rs73067085	0.85[AFR][1000 genomes]
rs73069027	0.82[AFR][1000 genomes]
rs73069029	0.82[AFR][1000 genomes]
rs73069031	0.82[AFR][1000 genomes]
rs73069033	0.80[AFR][1000 genomes]
rs73079459	0.94[EUR][1000 genomes]
rs73079470	0.94[EUR][1000 genomes]
rs9283525	0.91[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	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213346800-213352400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:213349200-213352400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:213350200-213352800	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:213350200-213353400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:213350600-213353400	Weak transcription	Psoas Muscle	Psoas
6	chr2:213350800-213352200	Weak transcription	Fetal Heart	heart
7	chr2:213350800-213352600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:213350800-213353600	Weak transcription	Aorta	Aorta
9	chr2:213351000-213352800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:213351200-213353800	Enhancers	Brain Anterior Caudate	brain
11	chr2:213351400-213353000	Weak transcription	Brain Substantia Nigra	brain

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