Variant report

Variant	rs28847294
Chromosome Location	chr16:72785689-72785690
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72783409..72786270-chr16:72788322..72789913,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11861408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861672	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863759	1.00[EUR][1000 genomes]
rs11865496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11866292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12103150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331987	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971145	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971240	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971367	1.00[EUR][1000 genomes]
rs16971373	1.00[EUR][1000 genomes]
rs16971382	1.00[EUR][1000 genomes]
rs28459407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464989	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28514442	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28530505	1.00[EUR][1000 genomes]
rs28569075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28616025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28693857	1.00[EUR][1000 genomes]
rs28828717	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4255793	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56991537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60176428	1.00[EUR][1000 genomes]
rs61192283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61655021	1.00[EUR][1000 genomes]
rs6499589	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187768	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197918	1.00[EUR][1000 genomes]
rs7199507	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202598	1.00[EUR][1000 genomes]
rs7203819	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584928	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584931	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584955	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590703	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590712	1.00[EUR][1000 genomes]
rs73590718	1.00[EUR][1000 genomes]
rs73590724	1.00[EUR][1000 genomes]
rs73590791	1.00[EUR][1000 genomes]
rs73601423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601436	1.00[AMR][1000 genomes]
rs8043976	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048860	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051123	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053566	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061838	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923235	1.00[AMR][1000 genomes]
rs9926706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9928673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929006	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935518	1.00[EUR][1000 genomes]
rs9935826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	esv1822094	chr16:72694760-72787961	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr16:72778600-72791400	Weak transcription	Primary B cells from cord blood	blood
2	chr16:72780800-72787000	Enhancers	Fetal Intestine Small	intestine
3	chr16:72782000-72787600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:72783200-72787000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:72783800-72786600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr16:72783800-72786800	Weak transcription	HepG2	liver
7	chr16:72783800-72810600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:72784000-72787000	Enhancers	Fetal Intestine Large	intestine
9	chr16:72785000-72786200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:72785000-72789200	Weak transcription	Ovary	ovary
11	chr16:72785200-72797800	Weak transcription	Fetal Heart	heart

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