Variant report

Variant	nsv550642
Chromosome Location	chr10:42662111-42721667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1428)
CpG islands
(count:306)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1428 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42678393-42678733	GM12878	blood:	n/a	n/a
2	BATF	chr10:42661385-42662259	GM12878	blood:	n/a	n/a
3	BATF	chr10:42681054-42681429	GM12878	blood:	n/a	n/a
4	BATF	chr10:42696631-42696866	GM12878	blood:	n/a	n/a
5	BATF	chr10:42681006-42681427	GM12878	blood:	n/a	n/a
6	BATF	chr10:42661279-42666179	GM12878	blood:	n/a	chr10:42665305-42665316
7	BATF	chr10:42673879-42674402	GM12878	blood:	n/a	n/a
8	BATF	chr10:42684889-42685225	GM12878	blood:	n/a	n/a
9	BATF	chr10:42677087-42677277	GM12878	blood:	n/a	n/a
10	BATF	chr10:42676194-42676528	GM12878	blood:	n/a	n/a
11	BATF	chr10:42667213-42667659	GM12878	blood:	n/a	n/a
12	BATF	chr10:42678896-42679605	GM12878	blood:	n/a	n/a
13	BATF	chr10:42697926-42698033	GM12878	blood:	n/a	n/a
14	BATF	chr10:42671037-42671253	GM12878	blood:	n/a	n/a
15	BATF	chr10:42684572-42684848	GM12878	blood:	n/a	n/a
16	BATF	chr10:42666306-42667023	GM12878	blood:	n/a	n/a
17	BATF	chr10:42683465-42683803	GM12878	blood:	n/a	n/a
18	BATF	chr10:42663387-42664486	GM12878	blood:	n/a	n/a
19	BATF	chr10:42673852-42674316	GM12878	blood:	n/a	n/a
20	BATF	chr10:42667064-42667644	GM12878	blood:	n/a	n/a
21	BATF	chr10:42662289-42662960	GM12878	blood:	n/a	n/a
22	BATF	chr10:42676678-42677222	GM12878	blood:	n/a	n/a
23	BATF	chr10:42691041-42691261	GM12878	blood:	n/a	n/a
24	BATF	chr10:42666434-42667002	GM12878	blood:	n/a	n/a
25	BATF	chr10:42684802-42685128	GM12878	blood:	n/a	n/a
26	BATF	chr10:42704531-42704782	GM12878	blood:	n/a	chr10:42704640-42704651
27	BATF	chr10:42683418-42684038	GM12878	blood:	n/a	n/a
28	BATF	chr10:42676274-42676463	GM12878	blood:	n/a	n/a
29	BATF	chr10:42704442-42704772	GM12878	blood:	n/a	chr10:42704640-42704651
30	BATF	chr10:42678782-42679680	GM12878	blood:	n/a	n/a
31	BATF	chr10:42664499-42666109	GM12878	blood:	n/a	chr10:42665305-42665316
32	BCL11A	chr10:42666418-42667036	GM12878	blood:	n/a	n/a
33	BCL11A	chr10:42687857-42688167	GM12878	blood:	n/a	n/a
34	BCL11A	chr10:42684825-42685022	GM12878	blood:	n/a	n/a
35	BCL11A	chr10:42664523-42666119	GM12878	blood:	n/a	n/a
36	BCL11A	chr10:42683453-42683798	GM12878	blood:	n/a	n/a
37	BCL11A	chr10:42664692-42665853	GM12878	blood:	n/a	n/a
38	BCL11A	chr10:42704506-42704681	GM12878	blood:	n/a	n/a
39	BCL11A	chr10:42673892-42674312	GM12878	blood:	n/a	n/a
40	BCL11A	chr10:42678781-42679602	GM12878	blood:	n/a	n/a
41	BCL11A	chr10:42678728-42679747	GM12878	blood:	n/a	n/a
42	BCL11A	chr10:42679981-42680151	GM12878	blood:	n/a	n/a
43	BCL11A	chr10:42673810-42674313	GM12878	blood:	n/a	n/a
44	BCL11A	chr10:42677828-42678108	GM12878	blood:	n/a	n/a
45	BCL11A	chr10:42667269-42667681	GM12878	blood:	n/a	n/a
46	BCL11A	chr10:42677876-42678057	GM12878	blood:	n/a	n/a
47	BCL11A	chr10:42704553-42704791	GM12878	blood:	n/a	n/a
48	BCL11A	chr10:42681257-42681446	GM12878	blood:	n/a	n/a
49	BCL11A	chr10:42667099-42667656	GM12878	blood:	n/a	n/a
50	BCL11A	chr10:42705685-42705867	GM12878	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42672589-42672639	GM06990	blood:	n/a
2	chr10:42672589-42672639	GM06990	blood:	n/a
3	chr10:42677108-42677158	SKMC	muscle:	n/a
4	chr10:42670961-42671011	HCPEpiC	choroid plexus:	n/a
5	chr10:42670961-42671011	AoSMC	blood vessel:	n/a
6	chr10:42673902-42673952	MCF10A-Er-Src	breast:	n/a
7	chr10:42673902-42673952	HIPEpiC	eye:	n/a
8	chr10:42672589-42672639	ovcar-3	ovarian:	n/a
9	chr10:42672589-42672639	U87	brain:	n/a
10	chr10:42673902-42673952	HCT-116	colon:	n/a
11	chr10:42677108-42677158	HAEpiC	amniotic membrane:	n/a
12	chr10:42673902-42673952	GM06990	blood:	n/a
13	chr10:42677108-42677158	AG09309	skin:	n/a
14	chr10:42677108-42677158	Jurkat	blood:	n/a
15	chr10:42672859-42672909	HCF	heart:	n/a
16	chr10:42672589-42672639	NHBE	bronchial:	n/a
17	chr10:42677108-42677158	SK-N-SH_RA	brain:	n/a
18	chr10:42677108-42677158	CMK	blood:	n/a
19	chr10:42672589-42672639	RPTEC	kidney:	n/a
20	chr10:42673902-42673952	GM12892	blood:	n/a
21	chr10:42672589-42672639	H1-hESC	embryonic stem cell:	embryo
22	chr10:42673902-42673952	IMR90	lung:	fetal
23	chr10:42670961-42671011	HIPEpiC	eye:	n/a
24	chr10:42677108-42677158	HRPEpiC	eye:	n/a
25	chr10:42673902-42673952	HepG2	liver:	n/a
26	chr10:42673902-42673952	HL-60	blood:	n/a
27	chr10:42677108-42677158	Hepatocyte	liver:	n/a
28	chr10:42673902-42673952	HUVEC	blood vessel:	n/a
29	chr10:42677108-42677158	BJ	skin:	n/a
30	chr10:42677108-42677158	LNCaP	prostate:	n/a
31	chr10:42672859-42672909	HRCEpiC	kidney:	n/a
32	chr10:42670961-42671011	ovcar-3	ovarian:	n/a
33	chr10:42672859-42672909	GM12878	blood:	n/a
34	chr10:42670961-42671011	BJ	skin:	n/a
35	chr10:42673902-42673952	A549	lung:	n/a
36	chr10:42672859-42672909	CMK	blood:	n/a
37	chr10:42672589-42672639	GM12878	blood:	n/a
38	chr10:42670961-42671011	GM12892	blood:	n/a
39	chr10:42672589-42672639	PFSK-1	brain:	n/a
40	chr10:42673902-42673952	RPTEC	kidney:	n/a
41	chr10:42677108-42677158	HUVEC	blood vessel:	n/a
42	chr10:42672589-42672639	HL-60	blood:	n/a
43	chr10:42672589-42672639	Hepatocyte	liver:	n/a
44	chr10:42672589-42672639	HRPEpiC	eye:	n/a
45	chr10:42670961-42671011	HCT-116	colon:	n/a
46	chr10:42672589-42672639	HIPEpiC	eye:	n/a
47	chr10:42672859-42672909	HNPCEpiC	eye:	n/a
48	chr10:42673902-42673952	Caco-2	colon:	n/a
49	chr10:42672859-42672909	BJ	skin:	n/a
50	chr10:42673902-42673952	HCF	heart:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:42673929..42674445-chr10:43600657..43601190,2	K562	blood:
2	chr10:42673795..42674377-chr10:42765091..42765784,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-8	chr10:42705438-42705831	NONHSAT012856
2	lnc-BMS1-9	chr10:42686975-42687136	NONHSAT012855
3	lnc-BMS1-9	chr10:42687963-42689514	NONHSAT012855

No data

Variant related genes	Relation type
ENSG00000271650	TF binding region
IGKV1OR10-1	TF binding region
ENSG00000271650	CpG island
IGKV1OR10-1	CpG island

Extended variants
information (count: 2098 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2098 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28970769	chr10:42662111-42662112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150600536	chr10:42662117-42662118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144063296	chr10:42662118-42662119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140579767	chr10:42662120-42662121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552883206	chr10:42662123-42662124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs118196049	chr10:42662126-42662127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375292950	chr10:42662127-42662128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371559253	chr10:42662133-42662134	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535183674	chr10:42662135-42662136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139137710	chr10:42662139-42662140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7475763	chr10:42662140-42662141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28972194	chr10:42662150-42662151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554786021	chr10:42662154-42662155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201406596	chr10:42662155-42662156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28971203	chr10:42662159-42662160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375478726	chr10:42662163-42662164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111209064	chr10:42662168-42662169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62649155	chr10:42662172-42662173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372830688	chr10:42662178-42662179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200198364	chr10:42662179-42662180	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200756686	chr10:42662180-42662181	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556974495	chr10:42662184-42662185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576820845	chr10:42662185-42662186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368195294	chr10:42662188-42662189	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142377303	chr10:42662189-42662190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372471394	chr10:42662191-42662192	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199879044	chr10:42662192-42662193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545719126	chr10:42662193-42662194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375670144	chr10:42662195-42662196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28971437	chr10:42662198-42662199	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201913619	chr10:42662202-42662203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572977052	chr10:42662204-42662205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369435842	chr10:42662208-42662209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541964100	chr10:42662216-42662217	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377695244	chr10:42662221-42662222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62649158	chr10:42662222-42662223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530671874	chr10:42662227-42662228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375870316	chr10:42662239-42662240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550693314	chr10:42662241-42662242	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28971212	chr10:42662247-42662248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564100883	chr10:42662255-42662256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532943600	chr10:42662257-42662258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376695371	chr10:42662263-42662264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201967213	chr10:42662267-42662268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566334396	chr10:42662281-42662282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373874806	chr10:42662289-42662290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367761515	chr10:42662290-42662291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371248271	chr10:42662295-42662296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62649159	chr10:42662299-42662300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528681894	chr10:42662300-42662301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42655800-42668200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:42660000-42668200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr10:42660400-42668000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:42660400-42668000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr10:42660600-42668000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:42661000-42667600	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr10:42661200-42662200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:42661200-42662600	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr10:42661200-42663000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:42661200-42663200	ZNF genes & repeats	Brain Anterior Caudate	brain
11	chr10:42661200-42663200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
12	chr10:42661200-42664400	ZNF genes & repeats	Brain Angular Gyrus	brain
13	chr10:42661200-42667000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr10:42661200-42667200	ZNF genes & repeats	Brain Substantia Nigra	brain
15	chr10:42661200-42667400	ZNF genes & repeats	K562	blood
16	chr10:42661200-42667600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr10:42661200-42667600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:42661200-42667600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
19	chr10:42661200-42667600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr10:42661200-42667600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr10:42661200-42667600	ZNF genes & repeats	Fetal Brain Male	brain
22	chr10:42661200-42667600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr10:42661200-42667800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr10:42661200-42667800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:42661200-42667800	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr10:42661200-42667800	ZNF genes & repeats	Fetal Heart	heart
27	chr10:42661200-42667800	ZNF genes & repeats	Fetal Lung	lung
28	chr10:42661200-42668000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr10:42661200-42668200	ZNF genes & repeats	Liver	Liver
30	chr10:42661400-42667200	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr10:42661400-42667200	ZNF genes & repeats	GM12878-XiMat	blood
32	chr10:42661400-42667400	ZNF genes & repeats	HepG2	liver
33	chr10:42661400-42667600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
34	chr10:42661400-42667600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr10:42661400-42667600	ZNF genes & repeats	Fetal Kidney	kidney
36	chr10:42661400-42667600	ZNF genes & repeats	HUVEC	blood vessel
37	chr10:42661400-42667800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
38	chr10:42661600-42666800	Weak transcription	NHDF-Ad	bronchial
39	chr10:42661800-42662800	Weak transcription	NHEK	skin
40	chr10:42662800-42663000	ZNF genes & repeats	NHEK	skin
41	chr10:42663600-42664200	ZNF genes & repeats	NH-A	brain
42	chr10:42666000-42667600	ZNF genes & repeats	Gastric	stomach
43	chr10:42666800-42667400	ZNF genes & repeats	NH-A	brain
44	chr10:42666800-42667600	ZNF genes & repeats	NHDF-Ad	bronchial
45	chr10:42667200-42667600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr10:42667200-42667600	ZNF genes & repeats	Brain Hippocampus Middle	brain
47	chr10:42667800-42668200	Weak transcription	NHDF-Ad	bronchial
48	chr10:42668000-42668200	Weak transcription	Fetal Lung	lung
49	chr10:42668000-42668400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:42668200-42673400	Weak transcription	Liver	Liver

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