Variant report

Variant	rs72823796
Chromosome Location	chr2:99227812-99227813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:99227641-99227873	K562	blood:	n/a	n/a
2	POLR2A	chr2:99227704-99227904	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99226628..99228917-chr2:99238059..99239915,2	K562	blood:
2	chr2:99223609..99227969-chr2:99231004..99234291,6	MCF-7	breast:
3	chr2:99226027..99228456-chr2:99771490..99773125,2	K562	blood:
4	chr2:99226802..99229697-chr2:99243779..99246531,2	K562	blood:
5	chr2:99227326..99229717-chr2:99249569..99251711,2	K562	blood:

Variant related genes	Relation type
UNC50	TF binding region
COA5	TF binding region
ENSG00000144182	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 164 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10199199	0.83[EUR][1000 genomes]
rs10496327	0.87[EUR][1000 genomes]
rs10514774	0.83[EUR][1000 genomes]
rs1139829	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11537554	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11884553	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11888595	0.87[EUR][1000 genomes]
rs11892744	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11896729	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901568	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11902825	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12052639	0.88[EUR][1000 genomes]
rs12617721	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618524	0.87[EUR][1000 genomes]
rs12619665	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12622341	0.87[EUR][1000 genomes]
rs13402379	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1516085	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1587835	0.83[EUR][1000 genomes]
rs17031139	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031146	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031905	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17032120	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17032866	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17032870	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17033136	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17033813	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17034171	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034241	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17444095	0.87[EUR][1000 genomes]
rs17446058	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17502889	0.83[EUR][1000 genomes]
rs17504774	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17505088	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17505326	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17506535	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17513468	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1847550	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2230388	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276603	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278206	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278207	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278208	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2278211	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2278212	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278213	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278214	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2309390	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3203856	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34906456	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3729568	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3754871	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754872	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754875	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754877	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754878	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3754879	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754880	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754881	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754883	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754884	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754885	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754886	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3754888	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754889	0.86[EUR][1000 genomes]
rs3754890	0.88[EUR][1000 genomes]
rs3754891	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754893	0.84[EUR][1000 genomes]
rs3769698	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769701	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769708	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769709	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769712	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769713	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769715	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769716	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769717	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769719	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769723	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769724	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769725	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769726	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769727	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769728	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769729	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769730	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769733	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769734	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3769735	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769736	0.88[EUR][1000 genomes]
rs3769737	0.88[EUR][1000 genomes]
rs3769738	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769740	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769741	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769743	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3820941	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820943	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3820945	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4596026	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4599165	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850874	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850875	0.87[EUR][1000 genomes]
rs4850876	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850877	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850878	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850879	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4851131	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4851136	0.86[EUR][1000 genomes]
rs4851140	0.88[EUR][1000 genomes]
rs4851141	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4851142	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4851144	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4851145	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851146	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55900716	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55934321	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56091613	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56118505	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56141907	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56197140	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56232707	0.83[EUR][1000 genomes]
rs56240302	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56333112	0.82[EUR][1000 genomes]
rs56357378	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58778964	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61180742	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6542754	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6728891	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6736755	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753380	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6753515	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72819965	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819970	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819971	0.83[EUR][1000 genomes]
rs72819972	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819981	0.83[EUR][1000 genomes]
rs72819996	0.86[EUR][1000 genomes]
rs72820002	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821904	0.88[EUR][1000 genomes]
rs72821907	0.88[EUR][1000 genomes]
rs72821908	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72821920	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821924	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821930	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821939	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821943	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821946	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821951	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821955	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821956	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821965	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823788	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823792	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823794	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823801	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7562232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7585747	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7593615	0.83[EUR][1000 genomes]
rs7595120	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs961242	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99225800-99229600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:99225800-99235000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:99226200-99228000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:99226200-99228000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr2:99226200-99228000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:99226200-99228000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:99226200-99228600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:99226400-99228000	Genic enhancers	Liver	Liver
9	chr2:99226400-99228000	Genic enhancers	K562	blood
10	chr2:99226400-99229000	Weak transcription	Esophagus	oesophagus
11	chr2:99226400-99229000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:99226400-99229800	Weak transcription	Lung	lung
13	chr2:99226400-99230000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:99226400-99230000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:99226600-99228000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:99226600-99228000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:99226600-99228000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:99226600-99228000	Genic enhancers	Brain Angular Gyrus	brain
19	chr2:99226600-99228000	Genic enhancers	Fetal Intestine Small	intestine
20	chr2:99226600-99228000	Genic enhancers	NHEK	skin
21	chr2:99226600-99228200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:99226600-99228200	Genic enhancers	Brain Cingulate Gyrus	brain
23	chr2:99226600-99228200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:99226600-99228200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:99226600-99228400	Weak transcription	Aorta	Aorta
26	chr2:99226600-99228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:99226600-99234400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:99226600-99234600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:99226600-99235000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:99226600-99235800	Strong transcription	HSMM	muscle
31	chr2:99226800-99228000	Genic enhancers	Adipose Nuclei	Adipose
32	chr2:99226800-99228000	Genic enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:99226800-99228200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:99226800-99228400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr2:99226800-99229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:99226800-99232400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:99226800-99233600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:99226800-99234400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:99226800-99235200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:99226800-99235400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:99226800-99235600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:99226800-99238600	Strong transcription	Primary B cells from cord blood	blood
43	chr2:99227000-99228000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:99227000-99228000	Genic enhancers	Brain Anterior Caudate	brain
45	chr2:99227000-99228000	Genic enhancers	Fetal Lung	lung
46	chr2:99227000-99228000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:99227000-99228200	Genic enhancers	Fetal Intestine Large	intestine
48	chr2:99227000-99239000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:99227200-99228000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:99227200-99228000	Genic enhancers	Brain Substantia Nigra	brain

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