Variant report

Variant	rs4788646
Chromosome Location	chr16:72677970-72677971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72677208..72679563-chr16:72684004..72686829,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1001493	0.81[EUR][1000 genomes]
rs1006805	0.83[EUR][1000 genomes]
rs11641842	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11860023	0.82[EUR][1000 genomes]
rs12149680	0.84[AMR][1000 genomes]
rs12445443	0.83[EUR][1000 genomes]
rs12596611	0.82[EUR][1000 genomes]
rs12598536	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12599375	0.84[EUR][1000 genomes]
rs12708933	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13333122	0.81[EUR][1000 genomes]
rs13335806	0.82[EUR][1000 genomes]
rs1429072	0.84[EUR][1000 genomes]
rs1560278	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16971112	0.83[EUR][1000 genomes]
rs16971114	0.86[EUR][1000 genomes]
rs17841357	0.83[EUR][1000 genomes]
rs1864229	0.81[EUR][1000 genomes]
rs2358801	0.82[EUR][1000 genomes]
rs2905697	0.84[EUR][1000 genomes]
rs2914774	0.84[EUR][1000 genomes]
rs2967234	0.83[EUR][1000 genomes]
rs2967240	0.81[EUR][1000 genomes]
rs35005335	0.86[EUR][1000 genomes]
rs4788473	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56404261	0.82[EUR][1000 genomes]
rs62051497	0.88[EUR][1000 genomes]
rs62051500	0.87[EUR][1000 genomes]
rs62052880	0.83[EUR][1000 genomes]
rs7188640	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7189331	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7194470	0.82[EUR][1000 genomes]
rs7198233	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7198431	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7205109	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8044665	0.89[EUR][1000 genomes]
rs8046749	0.84[EUR][1000 genomes]
rs8048181	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8048832	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8049577	0.84[EUR][1000 genomes]
rs8050815	0.81[EUR][1000 genomes]
rs8059626	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8064129	0.82[EUR][1000 genomes]
rs877641	0.82[EUR][1000 genomes]
rs9922217	0.82[EUR][1000 genomes]
rs9924296	0.82[EUR][1000 genomes]
rs9940600	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv530712	chr16:72499171-72744114	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1065173	chr16:72509626-72693970	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv542951	chr16:72509626-72693970	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	esv1818026	chr16:72633305-72704680	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1059111	chr16:72647569-72751907	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72672200-72681200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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