Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:211989762..211992437-chr2:211995215..211997517,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10170004	0.84[ASN][1000 genomes]
rs10497940	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12105986	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1370619	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1370620	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1437373	0.93[ASN][1000 genomes]
rs16824982	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4672605	0.84[ASN][1000 genomes]
rs55634207	0.86[ASN][1000 genomes]
rs55997007	0.84[ASN][1000 genomes]
rs56002634	0.81[ASN][1000 genomes]
rs56313456	0.86[ASN][1000 genomes]
rs59214701	0.86[ASN][1000 genomes]
rs59712773	0.80[ASN][1000 genomes]
rs6723493	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6731805	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67557079	0.84[ASN][1000 genomes]
rs6760475	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67776983	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935627	0.94[ASN][1000 genomes]
rs72935675	0.99[ASN][1000 genomes]
rs72935680	1.00[ASN][1000 genomes]
rs72937616	0.86[ASN][1000 genomes]
rs72937623	0.84[ASN][1000 genomes]
rs72941619	0.84[ASN][1000 genomes]
rs7564709	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9677922	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012193	chr2:211684524-212072213	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv834521	chr2:211918881-212057872	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875773	chr2:211973600-212041403	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv460063	chr2:211981894-211996803	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv584311	chr2:211981894-211996803	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211993400-211997000	Weak transcription	NHEK	skin
2	chr2:211993600-211996800	Weak transcription	HMEC	breast
3	chr2:211993600-211997400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:211994600-211998800	Enhancers	Hela-S3	cervix
5	chr2:211996400-211998800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:211996400-211998800	Enhancers	HSMM	muscle
7	chr2:211996600-211998800	Enhancers	NH-A	brain

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