Variant report

Variant	rs73583188
Chromosome Location	chr16:72651177-72651178
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	chr16:72647985..72650353-chr16:72650392..72652238,2	K562	blood:
2	chr16:72648333..72650478-chr16:72650766..72653685,2	MCF-7	breast:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs11075927	1.00[AMR][1000 genomes]
rs11075928	1.00[AMR][1000 genomes]
rs11859210	1.00[AMR][1000 genomes]
rs11861408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861672	0.81[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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332257	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13333424	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336634	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339625	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1429069	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1429070	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970897	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970929	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970996	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971006	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971145	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1864230	0.81[AFR][1000 genomes]
rs2017748	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053234	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107154	1.00[AMR][1000 genomes]
rs2163066	0.92[AFR][1000 genomes]
rs2189339	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2336436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2840012	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28459407	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464989	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28514442	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28568963	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28569075	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28616025	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28634932	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28693857	1.00[EUR][1000 genomes]
rs28828717	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28847294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4255793	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4624185	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55777547	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55806458	1.00[AMR][1000 genomes]
rs56991537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57841266	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58363387	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58819288	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61192283	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499589	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184113	0.86[AFR][1000 genomes];1.00[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]
rs7187532	1.00[AMR][1000 genomes]
rs7187768	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192337	0.95[AFR][1000 genomes];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]
rs7197250	1.00[AMR][1000 genomes]
rs7199507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199594	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203819	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584928	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584931	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584955	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]
rs73599411	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73601423	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601436	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8043976	0.84[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046375	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048860	1.00[AMR][1000 genomes]
rs8050489	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051123	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051420	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051595	1.00[AMR][1000 genomes]
rs8051982	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8052117	1.00[AMR][1000 genomes]
rs8053288	1.00[AMR][1000 genomes]
rs8053566	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057796	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059369	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061838	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302636	1.00[AMR][1000 genomes]
rs9302642	1.00[AMR][1000 genomes]
rs9921921	1.00[AMR][1000 genomes]
rs9923235	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926141	1.00[AMR][1000 genomes]
rs9926706	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927677	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928673	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929006	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932125	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933062	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934152	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935400	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937525	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9938038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1064027	chr16:72559417-72656702	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv1056987	chr16:72620573-72658730	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1064112	chr16:72620573-72671503	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1066815	chr16:72627782-72658730	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1055808	chr16:72627782-72667298	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2751612	chr16:72633299-72651914	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv431515	chr16:72633299-72654499	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	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
18	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72643600-72660600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr16:72644400-72652000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr16:72644400-72660400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr16:72646400-72652200	Weak transcription	Fetal Stomach	stomach
5	chr16:72646600-72659600	Weak transcription	HepG2	liver
6	chr16:72648400-72652600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:72649600-72651200	Weak transcription	Dnd41	blood
8	chr16:72649600-72659600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:72650000-72651600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:72650400-72654600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:72651000-72651400	Strong transcription	Primary B cells from cord blood	blood
12	chr16:72651000-72651400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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