Variant report

Variant	rs531987384
Chromosome Location	chr2:20424745-20424746
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	MAX	chr2:20424216-20424929	H1-hESC	embryonic stem cell:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
2	SP1	chr2:20424249-20425583	A549	lung:	n/a	chr2:20424895-20424909 chr2:20424470-20424482 chr2:20425525-20425534 chr2:20424990-20424999 chr2:20424936-20424946 chr2:20424951-20424961 chr2:20424950-20424962 chr2:20424471-20424485 chr2:20424991-20425000 chr2:20424950-20424962 chr2:20424896-20424905 chr2:20424989-20425001 chr2:20425525-20425535 chr2:20424951-20424960 chr2:20425524-20425536 chr2:20424951-20424960 chr2:20425524-20425536 chr2:20424990-20425000 chr2:20424951-20424965 chr2:20424472-20424481 chr2:20424895-20424905 chr2:20424989-20425001 chr2:20424990-20425000 chr2:20424952-20424961 chr2:20424951-20424961
3	SIN3A	chr2:20422973-20425643	H1-hESC	embryonic stem cell:	n/a	chr2:20425301-20425312 chr2:20424997-20425010 chr2:20424672-20424683 chr2:20424735-20424748 chr2:20424645-20424656
4	TAF1	chr2:20424381-20424923	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr2:20424680-20424830	AG04449	skin:	n/a	n/a
6	MAX	chr2:20424187-20425508	HCT-116	colon:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
7	RAD21	chr2:20420269-20426598	SK-N-SH	brain:	n/a	chr2:20422198-20422210 chr2:20424162-20424172 chr2:20425226-20425238 chr2:20423347-20423361
8	EGR1	chr2:20424669-20425725	MCF-7	breast:	n/a	chr2:20424997-20425007 chr2:20424952-20424962 chr2:20424953-20424966 chr2:20425523-20425532 chr2:20424992-20425005 chr2:20425304-20425314 chr2:20425520-20425533
9	POLR2A	chr2:20422750-20425544	GM12892	blood:	n/a	n/a
10	POLR2A	chr2:20424370-20425723	MCF-7	breast:	n/a	n/a
11	NFIC	chr2:20424220-20425356	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr2:20423602-20425541	A549	lung:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
13	MAX	chr2:20424206-20424941	ECC-1	luminal epithelium:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
14	YY1	chr2:20423035-20424926	HepG2	liver:	n/a	chr2:20424757-20424771 chr2:20423363-20423374 chr2:20424672-20424683 chr2:20424178-20424192 chr2:20423171-20423182 chr2:20423171-20423180 chr2:20423168-20423177
15	ESRRA	chr2:20424274-20426108	GM12878	blood:	n/a	chr2:20425299-20425312 chr2:20425885-20425901
16	MAX	chr2:20424330-20424784	H1-hESC	embryonic stem cell:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
17	POLR2A	chr2:20424403-20424859	H1-neurons	neurons:	n/a	n/a
18	ZNF263	chr2:20424394-20426249	HEK293-T-REx	kidney:	n/a	n/a
19	POLR2A	chr2:20424356-20424902	A549	lung:	n/a	n/a
20	HA-E2F1	chr2:20423339-20424931	MCF-7	breast:	n/a	chr2:20423845-20423855 chr2:20423545-20423557 chr2:20424641-20424653 chr2:20424639-20424649 chr2:20423804-20423813 chr2:20423360-20423370 chr2:20424649-20424660 chr2:20424522-20424534
21	MAX	chr2:20422503-20426249	HepG2	liver:	n/a	chr2:20423191-20423198 chr2:20424483-20424490 chr2:20423189-20423200 chr2:20424338-20424348 chr2:20423190-20423199 chr2:20423540-20423550 chr2:20423190-20423200 chr2:20424526-20424536 chr2:20423189-20423199
22	POLR2A	chr2:20423054-20425551	ECC-1	luminal epithelium:	n/a	n/a
23	CREB1	chr2:20424317-20424939	A549	lung:	n/a	n/a
24	TBP	chr2:20424716-20424853	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:20422936-20425902	MCF-7	breast:	n/a	n/a
26	MAX	chr2:20424270-20424946	SK-N-SH	brain:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
27	SIN3AK20	chr2:20422895-20424948	SK-N-SH	brain:	n/a	n/a
28	MAX	chr2:20423510-20424852	Hela-S3	cervix:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20423540-20423550 chr2:20424526-20424536
29	CHD2	chr2:20424324-20425364	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:20424648-20424836	K562	blood:	n/a	n/a
31	MAZ	chr2:20424731-20425542	GM12878	blood:	n/a	n/a
32	CTCF	chr2:20424660-20424810	SK-N-SH_RA	brain:	n/a	n/a
33	POLR2A	chr2:20424711-20424887	Hela-S3	cervix:	n/a	n/a
34	HDAC2	chr2:20422965-20425963	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:20423178-20424865	GM15510	blood:	n/a	n/a
36	MAX	chr2:20424271-20424906	K562	blood:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
37	MAX	chr2:20424253-20425899	MCF-7	breast:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
38	RUNX3	chr2:20424718-20424935	GM12878	blood:	n/a	n/a
39	MAX	chr2:20423554-20425885	ECC-1	luminal epithelium:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
40	MAX	chr2:20424247-20425478	SK-N-SH	brain:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
41	MYC	chr2:20424430-20425296	MCF10A-Er-Src	breast:	n/a	chr2:20424483-20424490 chr2:20424526-20424536
42	E2F6	chr2:20424311-20424846	K562	blood:	n/a	chr2:20424518-20424533 chr2:20424825-20424840 chr2:20424641-20424653 chr2:20424639-20424649 chr2:20424522-20424534
43	PAX5	chr2:20424295-20424892	GM12892	blood:	n/a	n/a
44	MXI1	chr2:20424376-20425391	HepG2	liver:	n/a	n/a
45	ZBTB7A	chr2:20422937-20425652	ECC-1	luminal epithelium:	n/a	chr2:20423177-20423184 chr2:20425227-20425236 chr2:20423506-20423515
46	UBTF	chr2:20424383-20425380	K562	blood:	n/a	n/a
47	ZBTB7A	chr2:20424583-20424815	K562	blood:	n/a	n/a
48	MAX	chr2:20424425-20424746	K562	blood:	n/a	chr2:20424483-20424490 chr2:20424526-20424536
49	SMARCB1	chr2:20423193-20424824	Hela-S3	cervix:	n/a	n/a
50	MYBL2	chr2:20424431-20426143	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20299695..20307724-chr2:20421846..20426859,15	MCF-7	breast:
2	chr2:20424066..20426931-chr2:20646792..20649592,2	MCF-7	breast:
3	chr2:20422608..20425941-chr2:20442995..20447318,5	MCF-7	breast:
4	chr2:20249233..20252415-chr2:20424056..20425890,4	MCF-7	breast:
5	chr2:20352822..20355874-chr2:20423290..20424865,3	MCF-7	breast:
6	chr2:20097107..20100415-chr2:20424161..20425989,3	K562	blood:
7	chr2:20423460..20425374-chr2:20445845..20448782,3	MCF-7	breast:

Variant related genes	Relation type
SDC1	TF binding region
ENSG00000068697	Chromatin interaction
ENSG00000234378	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000238735	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000213729	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846803	chr2:20409322-20427189	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	esv3429530	chr2:20423096-20425644	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv15661	chr2:20423227-20425210	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv1840553	chr2:20423264-20424838	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv581158	chr2:20423264-20424838	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv1792715	chr2:20423264-20425165	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv1792949	chr2:20423264-20425165	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	esv1799163	chr2:20423264-20425165	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv1800197	chr2:20423264-20425165	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv1800597	chr2:20423264-20425165	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv1802400	chr2:20423264-20425165	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv1816962	chr2:20423264-20425165	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	esv1833676	chr2:20423264-20425165	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	esv1836277	chr2:20423264-20425165	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	esv1837496	chr2:20423264-20425165	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
16	esv1841722	chr2:20423264-20425165	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	esv1848705	chr2:20423264-20425165	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
18	esv1798036	chr2:20423264-20442631	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	esv1846193	chr2:20423264-20442631	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	esv1849406	chr2:20423264-20442631	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
22	esv1792782	chr2:20423488-20424838	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
23	esv1838211	chr2:20423488-20424838	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
24	esv1811925	chr2:20423601-20424838	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
25	nsv581161	chr2:20423867-20424838	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
26	nsv581162	chr2:20423867-20424956	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
27	esv1836944	chr2:20423867-20425165	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
28	esv3398925	chr2:20423871-20426119	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
29	nsv581163	chr2:20423975-20424956	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
30	nsv581164	chr2:20424208-20425165	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20422000-20425200	Active TSS	Esophagus	oesophagus
2	chr2:20422200-20425200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:20422600-20425600	Active TSS	Fetal Brain Female	brain
4	chr2:20422600-20425800	Active TSS	Rectal Smooth Muscle	rectum
5	chr2:20422800-20424800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:20422800-20425400	Active TSS	Brain Angular Gyrus	brain
7	chr2:20422800-20425400	Active TSS	A549	lung
8	chr2:20422800-20425400	Active TSS	HMEC	breast
9	chr2:20422800-20425600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:20422800-20425600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:20422800-20425600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:20422800-20426000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:20423000-20425000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr2:20423000-20425200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:20423000-20425200	Active TSS	Placenta Amnion	Placenta Amnion
16	chr2:20423000-20425200	Active TSS	Right Ventricle	heart
17	chr2:20423000-20425400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:20423000-20425400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:20423000-20425400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:20423000-20425400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:20423000-20425400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:20423000-20425400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:20423000-20425400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:20423000-20425400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
25	chr2:20423000-20425400	Weak transcription	Fetal Heart	heart
26	chr2:20423000-20425400	Active TSS	Fetal Intestine Small	intestine
27	chr2:20423000-20425400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr2:20423000-20425400	Active TSS	Fetal Lung	lung
29	chr2:20423000-20425400	Active TSS	Ovary	ovary
30	chr2:20423000-20425400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr2:20423000-20425400	Active TSS	NHDF-Ad	bronchial
32	chr2:20423000-20425600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:20423000-20425600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr2:20423000-20425600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr2:20423000-20425600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:20423000-20425600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:20423000-20425600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:20423000-20425600	Active TSS	Colon Smooth Muscle	Colon
39	chr2:20423000-20425600	Active TSS	Hela-S3	cervix
40	chr2:20423000-20425800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr2:20423000-20425800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:20423000-20425800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:20423000-20425800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:20423200-20424800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr2:20423200-20424800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr2:20423200-20424800	Active TSS	Small Intestine	intestine
47	chr2:20423200-20425000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:20423200-20425000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:20423200-20425000	Active TSS	Left Ventricle	heart
50	chr2:20423200-20425200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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