Variant report

Variant	nsv1037784
Chromosome Location	chr9:115777096-115820554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:395)
CpG islands
(count:489)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:115818838-115819223	HepG2	liver:	n/a	n/a
2	ATF1	chr9:115818987-115819329	K562	blood:	n/a	n/a
3	BACH1	chr9:115818824-115819099	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr9:115818883-115819339	A549	lung:	n/a	chr9:115819074-115819083 chr9:115819166-115819179 chr9:115818995-115819008
5	BCLAF1	chr9:115818724-115819374	GM12878	blood:	n/a	chr9:115819074-115819083 chr9:115819166-115819179 chr9:115818995-115819008
6	BRCA1	chr9:115818962-115819275	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr9:115818890-115819213	HepG2	liver:	n/a	n/a
8	BRCA1	chr9:115818570-115819296	H1-hESC	embryonic stem cell:	n/a	n/a
9	CBX3	chr9:115805620-115805953	K562	blood:	n/a	n/a
10	CBX3	chr9:115805076-115805405	K562	blood:	n/a	n/a
11	CBX3	chr9:115805492-115805812	K562	blood:	n/a	n/a
12	CBX3	chr9:115818906-115819290	K562	blood:	n/a	n/a
13	CCNT2	chr9:115818855-115819219	K562	blood:	n/a	n/a
14	CEBPB	chr9:115818922-115819205	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr9:115791138-115791440	HepG2	liver:	n/a	chr9:115791286-115791297 chr9:115791410-115791423
16	CEBPB	chr9:115802387-115802637	HepG2	liver:	n/a	n/a
17	CEBPB	chr9:115791194-115791446	A549	lung:	n/a	chr9:115791286-115791297 chr9:115791410-115791423
18	CEBPB	chr9:115819574-115819797	HepG2	liver:	n/a	n/a
19	CEBPB	chr9:115788566-115788732	HepG2	liver:	n/a	n/a
20	CEBPB	chr9:115787676-115787860	IMR90	lung:	n/a	n/a
21	CEBPB	chr9:115819817-115820024	A549	lung:	n/a	n/a
22	CEBPB	chr9:115788468-115788841	IMR90	lung:	n/a	n/a
23	CHD2	chr9:115818886-115819195	HepG2	liver:	n/a	n/a
24	CHD2	chr9:115818760-115819325	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr9:115818812-115819232	Hela-S3	cervix:	n/a	n/a
26	CREB1	chr9:115818935-115819302	K562	blood:	n/a	n/a
27	CREB1	chr9:115818910-115819322	ECC-1	luminal epithelium:	n/a	n/a
28	CREB1	chr9:115818470-115819482	HepG2	liver:	n/a	n/a
29	CREB1	chr9:115818736-115819375	A549	lung:	n/a	n/a
30	CREB1	chr9:115818917-115819283	A549	lung:	n/a	n/a
31	CREB1	chr9:115818699-115819361	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr9:115818784-115819492	HepG2	liver:	n/a	n/a
33	CREB1	chr9:115818681-115819503	GM12878	blood:	n/a	n/a
34	CREB1	chr9:115818714-115819401	GM12878	blood:	n/a	n/a
35	CTCF	chr9:115818720-115818870	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr9:115786280-115786430	GM12875	blood:	n/a	n/a
37	CTCF	chr9:115819041-115819112	GM19239	blood:	n/a	n/a
38	CTCF	chr9:115819000-115819150	SAEC	small airway:	n/a	n/a
39	CTCF	chr9:115781394-115781467	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr9:115819003-115819162	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr9:115818920-115819070	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr9:115818980-115819130	SAEC	small airway:	n/a	n/a
43	CTCF	chr9:115819029-115819068	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr9:115796680-115796830	GM12867	blood:	n/a	n/a
45	CTCF	chr9:115803400-115803550	GM12871	blood:	n/a	n/a
46	CUX1	chr9:115819020-115819137	K562	blood:	n/a	n/a
47	E2F4	chr9:115807107-115807158	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr9:115818876-115819140	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr9:115810403-115810429	MCF10A-Er-Src	breast:	n/a	n/a
50	EGR1	chr9:115818682-115819304	ECC-1	luminal epithelium:	n/a	chr9:115819074-115819083

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:115815065-115815115	PFSK-1	brain:	n/a
2	chr9:115815065-115815115	PFSK-1	brain:	n/a
3	chr9:115819364-115819414	HCM	heart:	n/a
4	chr9:115819158-115819208	HMEC	breast:	n/a
5	chr9:115818857-115818907	Hela-S3	cervix:	n/a
6	chr9:115818495-115818545	Hepatocyte	liver:	n/a
7	chr9:115819158-115819208	HNPCEpiC	eye:	n/a
8	chr9:115818372-115818422	MCF10A-Er-Src	breast:	n/a
9	chr9:115818495-115818545	SK-N-SH	brain:	n/a
10	chr9:115818495-115818545	HRCEpiC	kidney:	n/a
11	chr9:115819190-115819240	NHDF-neo	bronchial:	n/a
12	chr9:115818495-115818545	HIPEpiC	eye:	n/a
13	chr9:115818372-115818422	HPAEpiC	pulmonary alveolar:	n/a
14	chr9:115819190-115819240	BE2_C	brain:	n/a
15	chr9:115819158-115819208	H1-hESC	embryonic stem cell:	embryo
16	chr9:115815065-115815115	GM06990	blood:	n/a
17	chr9:115818857-115818907	H1-hESC	embryonic stem cell:	embryo
18	chr9:115818495-115818545	AG04450	lung:	fetal
19	chr9:115819190-115819240	PFSK-1	brain:	n/a
20	chr9:115819906-115819956	A549	lung:	n/a
21	chr9:115818495-115818545	SAEC	small airway:	n/a
22	chr9:115815065-115815115	GM12891	blood:	n/a
23	chr9:115819906-115819956	HRPEpiC	eye:	n/a
24	chr9:115819190-115819240	HepG2	liver:	n/a
25	chr9:115819364-115819414	PFSK-1	brain:	n/a
26	chr9:115818495-115818545	AG09309	skin:	n/a
27	chr9:115818372-115818422	AG04449	skin:	fetal
28	chr9:115818495-115818545	LNCaP	prostate:	n/a
29	chr9:115819906-115819956	HL-60	blood:	n/a
30	chr9:115818372-115818422	PrEC	prostate:	n/a
31	chr9:115815065-115815115	HCPEpiC	choroid plexus:	n/a
32	chr9:115818495-115818545	SK-N-SH_RA	brain:	n/a
33	chr9:115819364-115819414	Jurkat	blood:	n/a
34	chr9:115818372-115818422	HIPEpiC	eye:	n/a
35	chr9:115819158-115819208	PFSK-1	brain:	n/a
36	chr9:115819190-115819240	HRPEpiC	eye:	n/a
37	chr9:115818495-115818545	NB4	blood:	n/a
38	chr9:115815065-115815115	ECC-1	luminal epithelium:	n/a
39	chr9:115819190-115819240	HCF	heart:	n/a
40	chr9:115818857-115818907	GM12878	blood:	n/a
41	chr9:115819364-115819414	SK-N-MC	brain:	n/a
42	chr9:115818857-115818907	HEK293	kidney:	embryo
43	chr9:115819364-115819414	HRPEpiC	eye:	n/a
44	chr9:115818495-115818545	HRPEpiC	eye:	n/a
45	chr9:115819364-115819414	HEEpiC	esophagus:	n/a
46	chr9:115819158-115819208	SK-N-SH	brain:	n/a
47	chr9:115818372-115818422	CMK	blood:	n/a
48	chr9:115818495-115818545	Caco-2	colon:	n/a
49	chr9:115819906-115819956	NT2-D1	testis:	n/a
50	chr9:115819158-115819208	NB4	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:115804647..115807614-chr9:115809086..115811153,2	MCF-7	breast:
2	chr9:115785171..115787186-chr9:115793966..115796289,2	K562	blood:
3	chr9:115785171..115787186-chr9:115793966..115796289,2	K562	blood:
4	chr9:115804647..115807614-chr9:115809086..115811153,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZFP37	hsa-miR-320a	chr9:115804743-115804764

Variant related genes	Relation type
ZFP37	TF binding region
ZNF883	TF binding region
ZFP37	CpG island
ZNF883	CpG island

Extended variants
information (count: 1078 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1078 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185981838	chr9:115780201-115780202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528131382	chr9:115780224-115780225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7021392	chr9:115780225-115780226	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117646410	chr9:115780240-115780241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144309760	chr9:115780259-115780260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs372334978	chr9:115780309-115780310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191122828	chr9:115780321-115780322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs74307755	chr9:115780329-115780330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147787419	chr9:115780341-115780342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183431836	chr9:115780394-115780395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs542090750	chr9:115780416-115780417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs139551025	chr9:115780450-115780451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527273920	chr9:115780481-115780482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113982818	chr9:115780503-115780504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs149832244	chr9:115780506-115780507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs139464121	chr9:115780558-115780559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374152711	chr9:115780559-115780560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145804830	chr9:115780566-115780567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs532826364	chr9:115780578-115780579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs369745855	chr9:115780581-115780582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549489528	chr9:115780589-115780590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs370189666	chr9:115787601-115787602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571702311	chr9:115787621-115787622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs540575220	chr9:115787632-115787633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs80307123	chr9:115787648-115787649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532856195	chr9:115787666-115787667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs549873159	chr9:115787685-115787686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs563710861	chr9:115787699-115787700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs115817414	chr9:115787726-115787727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549688913	chr9:115787805-115787806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559251349	chr9:115787808-115787809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181380256	chr9:115787818-115787819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs10117845	chr9:115787828-115787829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551765320	chr9:115787833-115787834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571636129	chr9:115787838-115787839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537127421	chr9:115787864-115787865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs369055848	chr9:115787876-115787877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372050672	chr9:115787906-115787907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs16917694	chr9:115787955-115787956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185267807	chr9:115787971-115787972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs148634881	chr9:115787992-115787993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190023131	chr9:115788001-115788002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540944727	chr9:115788016-115788017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183207845	chr9:115788025-115788026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs577598450	chr9:115788136-115788137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187499764	chr9:115788151-115788152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs144448551	chr9:115788188-115788189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs373714782	chr9:115788220-115788221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs58141788	chr9:115788233-115788234	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191479000	chr9:115788265-115788266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115780200-115780600	ZNF genes & repeats	Liver	Liver
2	chr9:115787600-115788400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr9:115788400-115788600	Enhancers	Osteobl	bone
4	chr9:115789200-115789400	Enhancers	Osteobl	bone
5	chr9:115790800-115791600	ZNF genes & repeats	Liver	Liver
6	chr9:115790800-115791800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr9:115790800-115791800	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr9:115791600-115793000	Weak transcription	Liver	Liver
9	chr9:115791800-115793000	Weak transcription	Adipose Nuclei	Adipose
10	chr9:115791800-115793200	Weak transcription	Brain Hippocampus Middle	brain
11	chr9:115793000-115799200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr9:115793000-115822200	ZNF genes & repeats	Liver	Liver
13	chr9:115793200-115793800	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr9:115793200-115795000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr9:115795800-115817800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:115798800-115818200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr9:115799600-115820400	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr9:115799800-115817600	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr9:115799800-115818200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:115800600-115812400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:115801000-115801200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr9:115801600-115808200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr9:115801800-115817400	ZNF genes & repeats	Brain Germinal Matrix	brain
24	chr9:115802000-115818000	ZNF genes & repeats	Brain Anterior Caudate	brain
25	chr9:115802200-115803800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:115802200-115812400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr9:115802200-115813400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:115802200-115815400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr9:115802400-115814800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr9:115802400-115815600	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr9:115802600-115812200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr9:115803200-115803600	ZNF genes & repeats	Fetal Stomach	stomach
33	chr9:115803200-115803800	ZNF genes & repeats	Left Ventricle	heart
34	chr9:115803200-115813000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr9:115803200-115817600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:115803200-115817800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:115803200-115817800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr9:115803200-115817800	ZNF genes & repeats	Fetal Brain Female	brain
39	chr9:115803200-115818000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:115803400-115803800	ZNF genes & repeats	Aorta	Aorta
41	chr9:115803400-115803800	ZNF genes & repeats	Pancreas	Pancrea
42	chr9:115803400-115803800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chr9:115803400-115804000	ZNF genes & repeats	Ovary	ovary
44	chr9:115803400-115812400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:115803600-115804400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
46	chr9:115803600-115809000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
47	chr9:115803600-115812200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr9:115803600-115812400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:115803600-115813000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr9:115803600-115815400	ZNF genes & repeats	Colon Smooth Muscle	Colon

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