Variant report

Variant	rs16971306
Chromosome Location	chr16:72850554-72850555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72837669..72840220-chr16:72850532..72852460,2	K562	blood:
2	chr16:72837783..72840580-chr16:72848572..72850573,2	K562	blood:
3	chr16:72834145..72835904-chr16:72847992..72850833,2	MCF-7	breast:
4	chr16:72849935..72851465-chr16:73204261..73206786,2	MCF-7	breast:
5	chr16:72846150..72847962-chr16:72849770..72852378,2	MCF-7	breast:
6	chr16:72849283..72851789-chr16:73089410..73091009,2	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1035983	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1035984	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10400973	0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs10492826	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11075940	0.81[AMR][1000 genomes]
rs12051226	0.94[CHB][hapmap];0.82[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12051305	0.92[ASN][1000 genomes]
rs12103361	0.94[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12595874	0.94[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12596196	1.00[ASW][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes]
rs12597202	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12597703	1.00[ASW][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes]
rs12598003	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12598048	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12598858	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12599442	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12599589	0.96[AMR][1000 genomes]
rs12600293	0.92[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12921040	1.00[EUR][1000 genomes]
rs13332877	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13333025	0.93[AMR][1000 genomes]
rs1366846	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1429431	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1429432	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1429433	0.83[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs1429434	0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs1544964	0.83[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs16971279	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16971281	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16971287	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16971288	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16971290	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16971292	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16971312	1.00[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971314	0.94[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971315	1.00[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16971318	1.00[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971321	1.00[ASW][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16971324	0.95[AMR][1000 genomes]
rs16971325	1.00[ASW][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes]
rs1859593	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1990096	1.00[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2040939	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2040940	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2043022	0.94[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes]
rs2115625	1.00[EUR][1000 genomes]
rs2229286	1.00[ASW][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2229290	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2266932	1.00[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2266934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2266935	0.84[CHB][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2266936	0.94[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266938	0.94[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266939	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2266941	0.94[CHB][hapmap];0.82[JPT][hapmap];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2266942	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2266944	0.94[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2358805	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2358811	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2358812	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs292913	0.88[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292914	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292915	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292916	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292917	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292918	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292919	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292920	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292921	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs292922	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292923	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292924	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292925	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292926	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292927	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292928	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292929	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292930	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292931	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292932	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292933	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292934	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292935	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292937	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292938	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292939	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs292940	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs292941	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs292942	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs292943	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs292945	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs292946	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3812983	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4238966	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4278755	0.94[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes]
rs4788479	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788655	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788657	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788663	1.00[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788664	1.00[ASW][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes]
rs4788666	0.95[AMR][1000 genomes]
rs4788667	1.00[ASW][hapmap];0.95[MEX][hapmap];0.96[AMR][1000 genomes]
rs4788669	0.96[AMR][1000 genomes]
rs59254438	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60974482	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6416744	1.00[ASW][hapmap];0.95[MEX][hapmap];0.96[AMR][1000 genomes]
rs6499578	0.86[AMR][1000 genomes]
rs6499579	1.00[ASW][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes]
rs6499581	1.00[ASW][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs6499591	1.00[ASW][hapmap];0.95[MEX][hapmap];0.96[AMR][1000 genomes]
rs6499592	0.93[AMR][1000 genomes]
rs6499593	0.95[AMR][1000 genomes]
rs714101	0.94[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs714102	1.00[ASW][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187123	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7198782	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7203232	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7206490	0.95[AMR][1000 genomes]
rs740176	0.98[AMR][1000 genomes]
rs740177	0.82[MEX][hapmap]
rs74028108	0.92[ASN][1000 genomes]
rs8044614	0.94[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053419	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs8059268	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9302640	0.81[CHB][hapmap];1.00[EUR][1000 genomes]
rs982799	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9921081	0.93[AMR][1000 genomes]
rs9923006	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927280	0.94[CHB][hapmap];0.81[AMR][1000 genomes]
rs9933433	0.94[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9934215	0.94[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes]
rs9936708	0.94[CHB][hapmap];0.81[AMR][1000 genomes]
rs999210	0.83[CHB][hapmap];0.82[JPT][hapmap]

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	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
2	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
3	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
2	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr16:72822800-72855600	Weak transcription	Thymus	Thymus
4	chr16:72832200-72858400	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:72832600-72852000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:72832600-72874800	Weak transcription	Spleen	Spleen
7	chr16:72833600-72856000	Weak transcription	Primary B cells from cord blood	blood
8	chr16:72833600-72861000	Weak transcription	Hela-S3	cervix
9	chr16:72833800-72861800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:72834200-72874200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr16:72834800-72853200	Weak transcription	NH-A	brain
12	chr16:72834800-72872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:72835000-72852200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr16:72835000-72853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:72835200-72860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:72835200-72867400	Weak transcription	NHEK	skin
17	chr16:72836400-72853000	Weak transcription	Fetal Brain Male	brain
18	chr16:72842800-72853800	Weak transcription	Psoas Muscle	Psoas
19	chr16:72843600-72851000	Weak transcription	HSMMtube	muscle
20	chr16:72845600-72851400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:72845600-72852200	Weak transcription	Brain Substantia Nigra	brain
22	chr16:72845600-72852200	Weak transcription	Fetal Muscle Leg	muscle
23	chr16:72845600-72852200	Weak transcription	Osteobl	bone
24	chr16:72845600-72852400	Weak transcription	NHDF-Ad	bronchial
25	chr16:72845600-72853200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr16:72845600-72855000	Weak transcription	Fetal Lung	lung
27	chr16:72845600-72858800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:72845600-72861400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:72845600-72861600	Weak transcription	Fetal Kidney	kidney
30	chr16:72845600-72869400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:72845600-72874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr16:72845800-72852200	Weak transcription	Brain Anterior Caudate	brain
33	chr16:72845800-72853200	Weak transcription	NHLF	lung
34	chr16:72845800-72853400	Weak transcription	Lung	lung
35	chr16:72845800-72862200	Weak transcription	Colonic Mucosa	Colon
36	chr16:72845800-72863200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr16:72845800-72863200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr16:72845800-72865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:72845800-72867000	Weak transcription	Ovary	ovary
40	chr16:72846000-72851400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:72846000-72851600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr16:72846000-72853200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:72846000-72853200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:72846000-72853200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr16:72846000-72853200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:72846000-72853200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr16:72846000-72858400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:72846000-72858800	Weak transcription	Fetal Intestine Small	intestine
49	chr16:72846000-72860800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr16:72846000-72861400	Weak transcription	Placenta	Placenta

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