Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:49270319..49273192-chr12:49274654..49277123,3	MCF-7	breast:
2	chr12:49253541..49263542-chr12:49271204..49284916,35	MCF-7	breast:
3	chr12:49267158..49269342-chr12:49271236..49273030,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172602	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10783287	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10875883	0.88[ASN][1000 genomes]
rs11168773	0.90[ASN][1000 genomes]
rs12369505	0.91[ASN][1000 genomes]
rs2132202	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2446983	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2446984	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2446986	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2446987	0.91[ASN][1000 genomes]
rs2446999	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2447000	0.89[ASN][1000 genomes]
rs2447001	0.90[ASN][1000 genomes]
rs2453474	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2453476	0.91[ASN][1000 genomes]
rs2926805	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2926806	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2934998	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3104163	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3958875	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4760647	0.90[ASN][1000 genomes]
rs833476	0.88[ASN][1000 genomes]
rs833478	0.87[ASN][1000 genomes]
rs833479	0.88[ASN][1000 genomes]
rs833483	0.94[ASN][1000 genomes]
rs833484	0.94[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	nsv469373	chr12:49256792-49285390	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	nsv558832	chr12:49256792-49285390	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
3	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2446985	CCDC65	cis	Esophagus Muscularis	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49271400-49275000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:49271400-49278200	Enhancers	Liver	Liver
3	chr12:49271600-49272000	Weak transcription	HepG2	liver
4	chr12:49271600-49274000	Weak transcription	A549	lung

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