Variant report

Variant	rs531086031
Chromosome Location	chr1:151344319-151344320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr1:151343816-151344921	ECC-1	luminal epithelium:	n/a	n/a
2	NR2F2	chr1:151343736-151345425	MCF-7	breast:	n/a	n/a
3	HDAC2	chr1:151343764-151345417	MCF-7	breast:	n/a	n/a
4	POLR2A	chr1:151343935-151345455	K562	blood:	n/a	n/a
5	POLR2A	chr1:151344105-151345508	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr1:151344252-151345432	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr1:151344195-151345477	SK-N-MC	brain:	n/a	n/a
8	MAZ	chr1:151343807-151345398	IMR90	lung:	n/a	n/a
9	NFIC	chr1:151344158-151344592	SK-N-SH	brain:	n/a	n/a
10	EP300	chr1:151344254-151344706	T-47D	breast:	n/a	chr1:151344515-151344529
11	EP300	chr1:151344311-151344555	SK-N-SH_RA	brain:	n/a	chr1:151344515-151344529
12	NFIC	chr1:151344080-151344750	SK-N-SH	brain:	n/a	n/a
13	CEBPB	chr1:151343727-151344343	A549	lung:	n/a	n/a
14	NFIC	chr1:151343733-151345506	ECC-1	luminal epithelium:	n/a	n/a
15	MAFK	chr1:151344277-151344615	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr1:151343801-151344575	MCF-7	breast:	n/a	n/a
17	CEBPB	chr1:151343717-151344423	MCF-7	breast:	n/a	n/a
18	POLR2A	chr1:151344303-151344589	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr1:151344236-151344570	HL-60	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151311947..151315930-chr1:151341715..151344576,4	K562	blood:
2	chr1:151298626..151300231-chr1:151342802..151344473,2	K562	blood:
3	chr1:151341989..151348019-chr1:151370228..151376359,14	MCF-7	breast:
4	chr1:151298918..151301246-chr1:151343671..151345334,3	MCF-7	breast:
5	chr1:151317585..151319121-chr1:151341611..151344384,2	MCF-7	breast:
6	1:151171193-151178589..1:151333184-151350267	GM12878	blood:
7	chr1:151298391..151300174-chr1:151343656..151346785,4	MCF-7	breast:
8	chr1:151340916..151343487-chr1:151343853..151346001,2	MCF-7	breast:
9	1:151333184-151350267..1:151592347-151603110	K562	blood:
10	chr1:151340503..151343136-chr1:151343197..151345914,3	K562	blood:
11	chr1:151265006..151266786-chr1:151342988..151344589,2	MCF-7	breast:
12	chr1:151343373..151350462-chr1:151369795..151376328,11	MCF-7	breast:
13	chr1:151319574..151321193-chr1:151343801..151346115,3	MCF-7	breast:

No data

Variant related genes	Relation type
SELENBP1	TF binding region
ENSG00000143398	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000224645	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000159377	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv438026	chr1:151318733-151344703	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv872424	chr1:151325055-151413180	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv872425	chr1:151325055-151413790	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2756864	chr1:151328794-151411635	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv2758969	chr1:151328794-151411635	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv872426	chr1:151329138-151355858	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv872427	chr1:151329138-151371305	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv872428	chr1:151329138-151395782	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv872429	chr1:151329138-151413180	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv8380	chr1:151329887-151410346	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv2753659	chr1:151330927-151384927	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
17	nsv824575	chr1:151331533-151408096	Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv463761	chr1:151333167-151404848	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv463772	chr1:151333167-151404848	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv463783	chr1:151333167-151404848	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
21	nsv463794	chr1:151333167-151404848	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv463805	chr1:151333167-151404848	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
23	nsv463816	chr1:151333167-151404848	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
24	nsv470737	chr1:151333167-151404848	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv547849	chr1:151333167-151404848	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
26	nsv818467	chr1:151333167-151404848	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
27	nsv463827	chr1:151333167-151413180	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
28	nsv547850	chr1:151333167-151413180	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
29	nsv1011398	chr1:151333430-151402839	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
30	nsv872430	chr1:151334796-151413180	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
31	nsv441714	chr1:151336699-151397878	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
32	esv2753719	chr1:151337788-151373200	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
33	nsv463839	chr1:151338570-151404848	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
34	nsv547851	chr1:151338570-151404848	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
35	nsv872431	chr1:151338570-151413180	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
36	nsv872432	chr1:151339196-151413180	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
37	nsv872433	chr1:151341417-151413180	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
38	esv3408226	chr1:151343628-151348026	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151335000-151344600	Weak transcription	Fetal Kidney	kidney
2	chr1:151335400-151344400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:151335600-151344400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:151336200-151344600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:151336200-151344600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:151336800-151344600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:151337000-151344400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:151337000-151344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:151337000-151344600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:151337200-151344800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:151338400-151344400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:151338600-151344600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:151338800-151344400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:151339200-151344400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:151339400-151344400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:151339400-151344400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:151339800-151344400	Enhancers	Placenta	Placenta
18	chr1:151340200-151344400	Enhancers	Left Ventricle	heart
19	chr1:151340600-151344600	Enhancers	Pancreas	Pancrea
20	chr1:151341600-151344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:151341800-151344800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:151341800-151345200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:151342000-151344400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:151342000-151344400	Enhancers	Fetal Muscle Leg	muscle
25	chr1:151342000-151344800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:151342200-151344400	Enhancers	Psoas Muscle	Psoas
27	chr1:151342200-151344400	Enhancers	NHDF-Ad	bronchial
28	chr1:151342200-151344800	Enhancers	Fetal Heart	heart
29	chr1:151342200-151345400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr1:151342400-151345000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:151342400-151345800	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:151342400-151346400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:151342400-151346600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:151342600-151344400	Enhancers	Brain Substantia Nigra	brain
35	chr1:151342800-151344400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:151342800-151344400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:151343000-151345200	Flanking Active TSS	Liver	Liver
38	chr1:151343200-151344400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:151343200-151344400	Enhancers	Stomach Mucosa	stomach
40	chr1:151343200-151346600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr1:151343400-151344400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:151343400-151344400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:151343400-151344400	Weak transcription	Brain Angular Gyrus	brain
44	chr1:151343400-151344400	Weak transcription	Lung	lung
45	chr1:151343400-151344600	Weak transcription	Fetal Thymus	thymus
46	chr1:151343400-151345200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:151343600-151345200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:151343600-151345400	Active TSS	Colonic Mucosa	Colon
49	chr1:151343600-151346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:151343800-151344600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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