Variant report

Variant	rs12708932
Chromosome Location	chr16:72649975-72649976
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	chr16:72647985..72650353-chr16:72650392..72652238,2	K562	blood:
2	chr16:72648333..72650478-chr16:72650766..72653685,2	MCF-7	breast:

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs1035983	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1035984	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10400973	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11075930	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11075931	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11075934	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11075937	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11075938	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11075940	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11531326	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12051226	1.00[AFR][1000 genomes]
rs12051376	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12051436	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12445485	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12595874	0.83[AFR][1000 genomes]
rs12596421	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12596520	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12597202	1.00[AFR][1000 genomes]
rs12598003	1.00[AFR][1000 genomes]
rs12599442	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12600298	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12921040	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1366846	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1366847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1429431	0.84[ASN][1000 genomes]
rs1429432	0.82[ASN][1000 genomes]
rs1429433	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1429434	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1529527	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1544964	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16970879	1.00[AFR][1000 genomes]
rs16970888	1.00[AFR][1000 genomes]
rs16970895	1.00[AFR][1000 genomes]
rs16970901	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16970906	1.00[AFR][1000 genomes]
rs16970922	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16970969	0.88[ASN][1000 genomes]
rs16970987	0.90[ASN][1000 genomes]
rs16970998	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs16971287	1.00[AFR][1000 genomes]
rs16971292	1.00[AFR][1000 genomes]
rs16971312	1.00[AFR][1000 genomes]
rs16971315	1.00[AFR][1000 genomes]
rs16971318	1.00[AFR][1000 genomes]
rs16971324	1.00[AFR][1000 genomes]
rs16971325	1.00[AFR][1000 genomes]
rs1990096	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs2040939	0.83[AFR][1000 genomes]
rs2040940	1.00[AFR][1000 genomes]
rs2043022	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2059901	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2107153	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2115625	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2115626	0.90[ASN][1000 genomes]
rs2163067	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2229286	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs2229290	1.00[AFR][1000 genomes]
rs2266932	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2266934	1.00[AFR][1000 genomes]
rs2266935	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2266936	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs2266938	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs2266941	1.00[AFR][1000 genomes]
rs2266944	1.00[AFR][1000 genomes]
rs2358805	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2860232	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2884552	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2905695	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2905696	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2914768	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2914770	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2914772	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2914773	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2914776	0.91[ASN][1000 genomes]
rs2914778	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2914781	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292913	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292914	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292915	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292916	0.81[ASN][1000 genomes]
rs292917	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292918	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292919	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292920	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292921	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292922	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292923	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292924	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292925	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292926	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292927	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292928	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292930	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs292931	0.81[ASN][1000 genomes]
rs292932	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs292933	0.81[ASN][1000 genomes]
rs292934	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs292935	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs292937	0.81[ASN][1000 genomes]
rs292938	0.81[ASN][1000 genomes]
rs292939	1.00[AFR][1000 genomes]
rs292943	1.00[AFR][1000 genomes]
rs292945	1.00[AFR][1000 genomes]
rs2967238	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2967239	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3812983	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4238966	1.00[AFR][1000 genomes]
rs4278755	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788474	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788637	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4788655	1.00[AFR][1000 genomes]
rs4788657	1.00[AFR][1000 genomes]
rs4788663	1.00[AFR][1000 genomes]
rs4788664	1.00[AFR][1000 genomes]
rs59254438	1.00[AFR][1000 genomes]
rs6499575	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6499576	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6499578	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499579	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499581	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs714101	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs714102	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7187123	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7192128	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7194567	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7199644	0.91[ASN][1000 genomes]
rs7199653	0.91[ASN][1000 genomes]
rs7203205	0.92[ASN][1000 genomes]
rs7203232	0.83[ASN][1000 genomes]
rs7206485	0.86[ASN][1000 genomes]
rs740176	1.00[AFR][1000 genomes]
rs7405242	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8044614	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8048815	0.92[ASN][1000 genomes]
rs8052426	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8053419	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8059268	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs873899	1.00[AFR][1000 genomes]
rs9302640	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs982799	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9923006	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9924937	0.91[ASN][1000 genomes]
rs9927280	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9934215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9935202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936708	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs999210	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][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:11 , 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	chr16:72649200-72650200	Strong transcription	Primary B cells from cord blood	blood
8	chr16:72649400-72650200	ZNF genes & repeats	GM12878-XiMat	blood
9	chr16:72649400-72650400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:72649600-72651200	Weak transcription	Dnd41	blood
11	chr16:72649600-72659600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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