Variant report

Variant	nsv535726
Chromosome Location	chr2:56767452-57126026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1456)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1456 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:56994176-56994258	K562	blood:	n/a	n/a
2	ATF1	chr2:57013062-57013304	K562	blood:	n/a	n/a
3	ATF2	chr2:56840263-56840735	GM12878	blood:	n/a	n/a
4	ATF2	chr2:56997583-56998016	GM12878	blood:	n/a	n/a
5	ATF3	chr2:56968584-56969210	A549	lung:	n/a	n/a
6	ATF3	chr2:56968638-56969377	A549	lung:	n/a	n/a
7	BATF	chr2:56980310-56980554	GM12878	blood:	n/a	n/a
8	BATF	chr2:56997653-56997934	GM12878	blood:	n/a	chr2:56997831-56997842
9	BATF	chr2:56997704-56997941	GM12878	blood:	n/a	chr2:56997831-56997842
10	BCL11A	chr2:56997668-56997942	GM12878	blood:	n/a	n/a
11	BCL3	chr2:56968619-56969314	A549	lung:	n/a	n/a
12	BCL3	chr2:56840349-56840710	GM12878	blood:	n/a	n/a
13	BCL3	chr2:56968527-56969366	A549	lung:	n/a	n/a
14	BRCA1	chr2:56968715-56969165	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr2:56958792-56958802	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr2:57067124-57067469	HCT-116	colon:	n/a	n/a
17	CBX3	chr2:56968576-56969072	HCT-116	colon:	n/a	n/a
18	CBX3	chr2:56926175-56926458	HCT-116	colon:	n/a	n/a
19	CCNT2	chr2:57041614-57041799	K562	blood:	n/a	n/a
20	CCNT2	chr2:56997165-56997365	K562	blood:	n/a	n/a
21	CEBPB	chr2:56968483-56969408	A549	lung:	n/a	chr2:56968916-56968929
22	CEBPB	chr2:57006992-57007246	IMR90	lung:	n/a	chr2:57007078-57007089
23	CEBPB	chr2:57037746-57038047	HepG2	liver:	n/a	chr2:57037916-57037927 chr2:57037758-57037775 chr2:57037918-57037929
24	CEBPB	chr2:57098783-57099028	A549	lung:	n/a	n/a
25	CEBPB	chr2:57020847-57021162	HepG2	liver:	n/a	chr2:57020979-57020990
26	CEBPB	chr2:57092289-57092556	HepG2	liver:	n/a	chr2:57092419-57092430
27	CEBPB	chr2:56807531-56807619	IMR90	lung:	n/a	n/a
28	CEBPB	chr2:57034021-57034373	MCF-7	breast:	n/a	n/a
29	CEBPB	chr2:56892239-56892556	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:57010416-57010803	HepG2	liver:	n/a	chr2:57010540-57010551 chr2:57010503-57010514
31	CEBPB	chr2:56985119-56985377	HepG2	liver:	n/a	chr2:56985235-56985248 chr2:56985235-56985246 chr2:56985236-56985247
32	CEBPB	chr2:57034077-57034391	A549	lung:	n/a	n/a
33	CEBPB	chr2:56824543-56824599	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:57033949-57034555	A549	lung:	n/a	n/a
35	CEBPB	chr2:56971118-56971236	HepG2	liver:	n/a	chr2:56971168-56971179
36	CEBPB	chr2:56892269-56892479	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr2:57006977-57007173	A549	lung:	n/a	chr2:57007078-57007089
38	CEBPB	chr2:57010410-57010654	A549	lung:	n/a	chr2:57010540-57010551 chr2:57010503-57010514
39	CEBPB	chr2:56908093-56908547	A549	lung:	n/a	n/a
40	CEBPB	chr2:56968665-56969269	Hela-S3	cervix:	n/a	chr2:56968916-56968929
41	CEBPB	chr2:56892284-56892509	IMR90	lung:	n/a	n/a
42	CEBPB	chr2:57098758-57099052	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:56908106-56908673	Hela-S3	cervix:	n/a	chr2:56908635-56908648 chr2:56908634-56908651
44	CEBPB	chr2:56990938-56991146	A549	lung:	n/a	n/a
45	CEBPB	chr2:56968648-56969351	A549	lung:	n/a	chr2:56968916-56968929
46	CEBPB	chr2:56915907-56916098	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr2:57088139-57088500	HepG2	liver:	n/a	n/a
48	CEBPB	chr2:56968504-56969240	A549	lung:	n/a	chr2:56968916-56968929
49	CEBPB	chr2:57007014-57007204	K562	blood:	n/a	chr2:57007078-57007089
50	CEBPB	chr2:57072133-57072333	A549	lung:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:57011309..57011934-chr2:57604188..57604743,2	MCF-7	breast:
2	chr2:56880116..56881952-chr2:56892431..56894900,2	MCF-7	breast:
3	chr2:57078712..57081570-chr2:57085174..57087217,2	MCF-7	breast:
4	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:
5	chr2:57069877..57070526-chr8:126036477..126036977,2	MCF-7	breast:
6	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:
7	chr2:57048488..57050051-chr2:57058805..57060828,2	MCF-7	breast:
8	chr2:56963796..56964597-chr4:36669358..36670047,2	MCF-7	breast:
9	chr2:57078712..57081570-chr2:57085174..57087217,2	MCF-7	breast:
10	chr2:56410661..56411329-chr2:56976031..56976883,5	MCF-7	breast:
11	chr2:57035108..57036803-chr2:57124744..57126282,2	K562	blood:
12	chr2:57125151..57127960-chr2:57127962..57130049,3	K562	blood:
13	chr2:56962863..56964748-chr2:56970862..56973633,2	MCF-7	breast:
14	chr2:56997703..56999296-chr2:57011926..57014412,2	K562	blood:
15	chr15:65596956..65597465-chr2:56867065..56867565,2	NB4	blood:
16	chr2:56773723..56776584-chr8:126325913..126327457,2	MCF-7	breast:
17	chr2:56919330..56921444-chr2:57050867..57052484,2	MCF-7	breast:
18	chr2:56940349..56941971-chr2:56943071..56945568,2	MCF-7	breast:
19	chr2:56438471..56441225-chr2:57051813..57054565,2	MCF-7	breast:
20	chr2:57048488..57050051-chr2:57058805..57060828,2	MCF-7	breast:
21	chr2:56940349..56941971-chr2:56943071..56945568,2	MCF-7	breast:
22	chr2:56418873..56419603-chr2:56975911..56976760,2	MCF-7	breast:
23	chr2:56880116..56881952-chr2:56892431..56894900,2	MCF-7	breast:
24	chr2:56962863..56964748-chr2:56970862..56973633,2	MCF-7	breast:
25	chr2:56919330..56921444-chr2:57050867..57052484,2	MCF-7	breast:
26	chr2:56410374..56411316-chr2:56976212..56976966,3	MCF-7	breast:
27	chr2:57035108..57036803-chr2:57124744..57126282,2	K562	blood:
28	chr2:56997703..56999296-chr2:57011926..57014412,2	K562	blood:
29	chr2:57037052..57037562-chr2:57367504..57368073,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC85A-1	chr2:56816620-56816630	XLOC_001482
2	lnc-CCDC85A-3	chr2:56977435-56977698	NONHSAT070829
3	lnc-CCDC85A-1	chr2:56815912-56815973	NONHSAT070827
4	lnc-CCDC85A-1	chr2:56815913-56815973	XLOC_001482
5	lnc-CCDC85A-1	chr2:56816619-56816630	NONHSAT070827

No data

Variant related genes	Relation type
ENSG00000231570	TF binding region
ENSG00000200156	chromatin interactions
ENSG00000055813	chromatin interactions
SEC23IP	miRNA target sites
NR2E1	miRNA target sites

Extended variants
information (count: 6674 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:6674 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535353611	chr2:56767647-56767648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554647269	chr2:56767734-56767735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568480922	chr2:56767763-56767764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115268406	chr2:56767804-56767805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144671195	chr2:56767818-56767819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79121513	chr2:56767819-56767820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372022843	chr2:56767833-56767834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188980436	chr2:56767843-56767844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114262447	chr2:56767854-56767855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573032833	chr2:56767856-56767857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55695151	chr2:56767885-56767886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542141855	chr2:56767887-56767888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543451792	chr2:56767909-56767910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13386950	chr2:56767951-56767952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543931207	chr2:56767952-56767953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577253610	chr2:56767972-56767973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181707688	chr2:56767978-56767979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114500841	chr2:56768010-56768011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552328948	chr2:56768037-56768038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559551770	chr2:56768048-56768049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528769882	chr2:56768067-56768068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6730224	chr2:56768068-56768069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6545577	chr2:56768076-56768077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541340503	chr2:56768095-56768096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551064156	chr2:56768096-56768097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375881048	chr2:56768098-56768099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369764333	chr2:56768103-56768104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570981775	chr2:56768217-56768218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539967663	chr2:56768224-56768225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553189416	chr2:56768248-56768249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573036138	chr2:56768279-56768280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75869303	chr2:56768287-56768288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7594141	chr2:56768299-56768300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575095293	chr2:56768348-56768349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144120873	chr2:56768381-56768382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549488054	chr2:56768382-56768383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147313749	chr2:56768435-56768436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577299891	chr2:56768451-56768452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199648320	chr2:56768493-56768494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12465822	chr2:56768507-56768508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369444125	chr2:56768526-56768527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76981147	chr2:56768591-56768592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6745582	chr2:56768605-56768606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548562861	chr2:56768632-56768633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115970295	chr2:56768690-56768691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114875274	chr2:56768719-56768720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6731016	chr2:56768720-56768721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140931116	chr2:56768759-56768760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552474538	chr2:56768778-56768779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186322468	chr2:56768779-56768780	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56767600-56768800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:56768200-56768600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:56768800-56771600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:56771600-56772000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:56777600-56778200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:56777600-56778200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:56789800-56790200	Enhancers	Fetal Heart	heart
8	chr2:56790200-56790600	Weak transcription	Fetal Heart	heart
9	chr2:56790600-56792600	Enhancers	Fetal Heart	heart
10	chr2:56792000-56793400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:56792200-56792600	Enhancers	HSMM	muscle
12	chr2:56792200-56793000	Enhancers	Adipose Nuclei	Adipose
13	chr2:56792600-56803000	Weak transcription	HSMM	muscle
14	chr2:56803000-56803800	Enhancers	Liver	Liver
15	chr2:56803000-56804600	ZNF genes & repeats	HSMM	muscle
16	chr2:56804600-56807000	Weak transcription	HSMM	muscle
17	chr2:56806800-56808200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:56807000-56807600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:56807000-56807600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:56807000-56807600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:56807000-56811400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:56807000-56811600	Enhancers	HSMM	muscle
23	chr2:56807200-56807800	Enhancers	NHEK	skin
24	chr2:56807600-56808000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:56807600-56808000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:56807600-56809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:56807800-56809400	Weak transcription	NHEK	skin
28	chr2:56808000-56808200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:56808000-56808200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:56808200-56809400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:56808200-56809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:56808200-56811400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:56809400-56810000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:56809400-56810400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:56809400-56810600	Enhancers	NHEK	skin
36	chr2:56809400-56810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:56810000-56810200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:56810600-56816000	Weak transcription	NHEK	skin
39	chr2:56810800-56811400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:56810800-56815800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:56811400-56811800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:56811400-56814400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:56811600-56814200	Weak transcription	HSMM	muscle
44	chr2:56811800-56814200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:56814200-56814400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:56814200-56814800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:56814200-56815200	Enhancers	HSMM	muscle
48	chr2:56814400-56814800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:56814400-56815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:56814800-56816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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