Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197331402..197332938-chr1:197333106..197334632,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10801603	0.90[ASN][1000 genomes]
rs12126335	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17618358	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2359151	0.80[AMR][1000 genomes]
rs2786098	0.88[ASN][1000 genomes]
rs2786116	0.90[ASN][1000 genomes]
rs2786117	0.96[ASN][1000 genomes]
rs2786119	0.96[ASN][1000 genomes]
rs2821107	0.86[ASN][1000 genomes]
rs2821115	0.90[ASN][1000 genomes]
rs2821116	0.90[ASN][1000 genomes]
rs2821117	0.90[ASN][1000 genomes]
rs3122635	0.81[ASN][1000 genomes]
rs3122636	0.82[ASN][1000 genomes]
rs4915231	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4915525	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4915526	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6428397	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6664399	0.90[ASN][1000 genomes]
rs949571	0.84[AMR][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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197324000-197338800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:197324000-197347000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:197329800-197333400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:197329800-197336400	Weak transcription	Ovary	ovary
5	chr1:197329800-197336800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:197329800-197338400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:197329800-197342400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:197330000-197333600	Weak transcription	Brain Anterior Caudate	brain

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