Variant report

Variant	esv11914
Chromosome Location	chr1:9596184-9597928
allele	n/a
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	ARID3A	chr1:9596417-9596453	K562	blood:	n/a	n/a
2	ARID3A	chr1:9597804-9598357	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:9596259-9596434	K562	blood:	n/a	n/a
4	CEBPD	chr1:9597917-9598226	HepG2	liver:	n/a	n/a
5	CUX1	chr1:9596322-9596380	K562	blood:	n/a	n/a
6	EP300	chr1:9597873-9598387	HepG2	liver:	n/a	chr1:9598183-9598197
7	EP300	chr1:9597823-9598489	HepG2	liver:	n/a	chr1:9598183-9598197
8	FOXA1	chr1:9597762-9598423	HepG2	liver:	n/a	chr1:9598116-9598131
9	FOXA1	chr1:9597831-9598445	HepG2	liver:	n/a	chr1:9598116-9598131
10	FOXA1	chr1:9597765-9598524	HepG2	liver:	n/a	chr1:9598116-9598131
11	FOXA1	chr1:9597767-9598630	HepG2	liver:	n/a	chr1:9598116-9598131
12	FOXA2	chr1:9597626-9598729	HepG2	liver:	n/a	n/a
13	FOXA2	chr1:9597812-9598394	HepG2	liver:	n/a	n/a
14	HDAC2	chr1:9597873-9598473	HepG2	liver:	n/a	chr1:9597906-9597920 chr1:9597910-9597924
15	HDAC2	chr1:9597856-9598428	HepG2	liver:	n/a	chr1:9597906-9597920 chr1:9597910-9597924
16	HEY1	chr1:9597809-9598450	HepG2	liver:	n/a	n/a
17	HEY1	chr1:9597776-9598737	HepG2	liver:	n/a	n/a
18	HNF4A	chr1:9597914-9598363	HepG2	liver:	n/a	chr1:9598128-9598136
19	HNF4A	chr1:9597878-9598443	HepG2	liver:	n/a	chr1:9598128-9598136
20	HNF4G	chr1:9597892-9598440	HepG2	liver:	n/a	chr1:9598128-9598136
21	HNF4G	chr1:9597816-9598495	HepG2	liver:	n/a	chr1:9598128-9598136
22	MAFK	chr1:9597909-9598014	HepG2	liver:	n/a	n/a
23	MAZ	chr1:9597862-9598262	HepG2	liver:	n/a	n/a
24	MBD4	chr1:9597855-9598430	HepG2	liver:	n/a	n/a
25	MBD4	chr1:9597852-9598495	HepG2	liver:	n/a	n/a
26	MYBL2	chr1:9597789-9598651	HepG2	liver:	n/a	n/a
27	MYBL2	chr1:9597694-9598675	HepG2	liver:	n/a	n/a
28	NFIC	chr1:9597894-9598660	HepG2	liver:	n/a	n/a
29	NFIC	chr1:9597702-9598494	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:9597786-9599822	HepG2	liver:	n/a	n/a
31	POLR2A	chr1:9597858-9600451	Raji	blood:	n/a	n/a
32	POLR2A	chr1:9597908-9598417	HepG2	liver:	n/a	n/a
33	POLR2A	chr1:9597746-9598805	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:9596742-9598589	K562	blood:	n/a	n/a
35	POLR2A	chr1:9597826-9598015	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:9597777-9601715	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:9597805-9598041	HepG2	liver:	n/a	n/a
38	RAD21	chr1:9597861-9598281	HepG2	liver:	n/a	n/a
39	REST	chr1:9597912-9598424	HepG2	liver:	n/a	n/a
40	RXRA	chr1:9597905-9598390	HepG2	liver:	n/a	chr1:9598188-9598197
41	SP1	chr1:9597791-9598471	HepG2	liver:	n/a	n/a
42	SRF	chr1:9597818-9598114	HepG2	liver:	n/a	chr1:9597935-9597949 chr1:9597935-9597952
43	SRF	chr1:9597868-9598021	HepG2	liver:	n/a	chr1:9597935-9597949 chr1:9597935-9597952
44	TBP	chr1:9597847-9598594	HepG2	liver:	n/a	n/a
45	TCF12	chr1:9597915-9598447	HepG2	liver:	n/a	chr1:9598121-9598130
46	TEAD4	chr1:9597849-9598545	HepG2	liver:	n/a	n/a
47	YY1	chr1:9597777-9598356	HepG2	liver:	n/a	n/a
48	ZNF384	chr1:9596251-9596428	GM12878	blood:	n/a	n/a
49	ZNF384	chr1:9596191-9596469	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9596866..9598419-chr1:9883166..9885475,2	K562	blood:
2	chr1:9594978..9597511-chr1:9598166..9600611,4	K562	blood:
3	chr1:9597734..9599433-chr1:9617661..9619736,2	K562	blood:
4	chr1:9586876..9589181-chr1:9596662..9599409,2	K562	blood:
5	chr1:9350586..9353918-chr1:9597167..9600975,3	MCF-7	breast:
6	chr1:9597781..9602686-chr1:9646599..9652829,9	K562	blood:
7	chr1:9594867..9596553-chr1:9616924..9619437,2	MCF-7	breast:

Variant related genes	Relation type
SLC25A33	TF binding region
ENSG00000188807	chromatin interactions
ENSG00000171612	chromatin interactions
ENSG00000171621	chromatin interactions
ENSG00000171603	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532258428	chr1:9596306-9596307	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs185791572	chr1:9596342-9596343	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542502074	chr1:9596382-9596383	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560807175	chr1:9596414-9596415	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs559493597	chr1:9596499-9596500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35184811	chr1:9596505-9596506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374657647	chr1:9596610-9596611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12057609	chr1:9596618-9596619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201361436	chr1:9596620-9596621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199556519	chr1:9596626-9596627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201830879	chr1:9596633-9596634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199951160	chr1:9596634-9596635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12748362	chr1:9596644-9596645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191570891	chr1:9596716-9596717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144482828	chr1:9596721-9596722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182830668	chr1:9596743-9596744	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550652285	chr1:9596839-9596840	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs551977634	chr1:9596892-9596893	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs187955398	chr1:9596896-9596897	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs71643057	chr1:9596900-9596901	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs71643058	chr1:9596902-9596903	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs562714926	chr1:9596937-9596938	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs190601016	chr1:9596957-9596958	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs556104632	chr1:9596960-9596961	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs12139645	chr1:9596971-9596972	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs375523067	chr1:9597012-9597013	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs537872295	chr1:9597018-9597019	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs555855369	chr1:9597020-9597021	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs112135426	chr1:9597035-9597036	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs111572257	chr1:9597041-9597042	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs577704156	chr1:9597065-9597066	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs11586309	chr1:9597094-9597095	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs544757705	chr1:9597113-9597114	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs553971522	chr1:9597158-9597159	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs571916869	chr1:9597178-9597179	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs554741920	chr1:9597241-9597242	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs376237825	chr1:9597252-9597253	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs188047750	chr1:9597263-9597264	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs192507609	chr1:9597275-9597276	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs184640966	chr1:9597292-9597293	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs188303554	chr1:9597308-9597309	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs192938725	chr1:9597330-9597331	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs562717538	chr1:9597356-9597357	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs533513825	chr1:9597389-9597390	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs551575562	chr1:9597473-9597474	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs184628595	chr1:9597488-9597489	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs527891886	chr1:9597497-9597498	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs549572086	chr1:9597622-9597623	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs567977685	chr1:9597649-9597650	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs377641688	chr1:9597658-9597659	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9555800-9599400	Weak transcription	Right Atrium	heart
2	chr1:9587200-9598200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:9591600-9598200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:9591600-9599000	Weak transcription	Adipose Nuclei	Adipose
5	chr1:9591600-9599400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:9592000-9598000	Weak transcription	Fetal Heart	heart
7	chr1:9593200-9598600	Weak transcription	Brain Anterior Caudate	brain
8	chr1:9593200-9599000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:9593400-9597800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:9593400-9597800	Weak transcription	Liver	Liver
11	chr1:9593400-9598000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:9593400-9598400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:9593400-9598600	Weak transcription	Fetal Lung	lung
14	chr1:9593400-9598800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:9593400-9598800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:9593400-9598800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:9593600-9596200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:9593600-9597200	Weak transcription	Fetal Intestine Large	intestine
19	chr1:9593600-9598000	Weak transcription	Brain Substantia Nigra	brain
20	chr1:9593600-9598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:9593600-9598200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:9593600-9598400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:9593600-9598800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:9593600-9599000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:9593600-9599000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:9593600-9599600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:9593800-9596400	Weak transcription	HepG2	liver
28	chr1:9593800-9599000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:9594400-9599400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:9594600-9599000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:9596200-9596400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr1:9596200-9597000	Enhancers	Fetal Intestine Small	intestine
33	chr1:9596200-9599400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:9596400-9597800	Enhancers	HepG2	liver
35	chr1:9596800-9598000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:9597000-9597800	Weak transcription	Fetal Intestine Small	intestine
37	chr1:9597200-9597800	Enhancers	Fetal Intestine Large	intestine
38	chr1:9597200-9599200	Enhancers	Stomach Mucosa	stomach
39	chr1:9597600-9597800	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:9597800-9598000	Flanking Active TSS	Liver	Liver
41	chr1:9597800-9598000	Enhancers	Fetal Intestine Small	intestine
42	chr1:9597800-9598000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr1:9597800-9598200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:9597800-9598200	Enhancers	Small Intestine	intestine
45	chr1:9597800-9598400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr1:9597800-9598400	Enhancers	K562	blood
47	chr1:9597800-9598600	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr1:9597800-9598800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:9597800-9598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:9597800-9599200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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