Variant report

Variant	nsv1040030
Chromosome Location	chr11:4441838-4476167
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	CEBPB	chr11:4455223-4455382	K562	blood:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
2	CEBPB	chr11:4464273-4464473	HepG2	liver:	n/a	chr11:4464335-4464348 chr11:4464336-4464347
3	CEBPB	chr11:4455143-4455440	IMR90	lung:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
4	CEBPB	chr11:4455134-4455441	HepG2	liver:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
5	CEBPB	chr11:4455124-4455430	A549	lung:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
6	CTCF	chr11:4452885-4452942	Fibrobl	skin:	n/a	n/a
7	CTCF	chr11:4445245-4445262	GM13977	blood:	n/a	n/a
8	CTCF	chr11:4471055-4471136	GM13976	blood:	n/a	n/a
9	CTCF	chr11:4471780-4471930	GM12868	blood:	n/a	n/a
10	CTCF	chr11:4471026-4471044	GM13976	blood:	n/a	n/a
11	CTCF	chr11:4470999-4471099	GM10248	blood:	n/a	n/a
12	E2F4	chr11:4459321-4459406	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr11:4448314-4448524	GM12878	blood:	n/a	chr11:4448395-4448406
14	FOS	chr11:4455144-4455486	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:4455221-4455357	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:4455190-4455494	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:4455156-4455484	MCF10A-Er-Src	breast:	n/a	n/a
18	JUN	chr11:4445597-4445782	HepG2	liver:	n/a	chr11:4445692-4445705
19	JUND	chr11:4446719-4447010	HepG2	liver:	n/a	n/a
20	JUND	chr11:4445532-4445820	HepG2	liver:	n/a	n/a
21	KAP1	chr11:4475493-4475952	HEK293	kidney:	n/a	n/a
22	MAFF	chr11:4471572-4471887	HepG2	liver:	n/a	chr11:4471704-4471722
23	MAFF	chr11:4443222-4443528	HepG2	liver:	n/a	chr11:4443367-4443381 chr11:4443361-4443379
24	MAFF	chr11:4443347-4443389	K562	blood:	n/a	chr11:4443367-4443381 chr11:4443361-4443379
25	MAFK	chr11:4470370-4470620	HepG2	liver:	n/a	chr11:4470495-4470510
26	MAFK	chr11:4443324-4443523	K562	blood:	n/a	chr11:4443363-4443374 chr11:4443366-4443382 chr11:4443364-4443384 chr11:4443363-4443378 chr11:4443367-4443381
27	MAFK	chr11:4443203-4443528	HepG2	liver:	n/a	chr11:4443363-4443374 chr11:4443366-4443382 chr11:4443364-4443384 chr11:4443363-4443378 chr11:4443367-4443381
28	MAFK	chr11:4443206-4443542	HepG2	liver:	n/a	chr11:4443363-4443374 chr11:4443366-4443382 chr11:4443364-4443384 chr11:4443363-4443378 chr11:4443367-4443381
29	MAFK	chr11:4471544-4471897	HepG2	liver:	n/a	chr11:4471705-4471719 chr11:4471706-4471721 chr11:4471706-4471717 chr11:4471707-4471718 chr11:4471706-4471717 chr11:4471706-4471722
30	MAFK	chr11:4471598-4471876	HepG2	liver:	n/a	chr11:4471705-4471719 chr11:4471706-4471721 chr11:4471706-4471717 chr11:4471707-4471718 chr11:4471706-4471717 chr11:4471706-4471722
31	MAFK	chr11:4471560-4471836	IMR90	lung:	n/a	chr11:4471705-4471719 chr11:4471706-4471721 chr11:4471706-4471717 chr11:4471707-4471718 chr11:4471706-4471717 chr11:4471706-4471722
32	MAFK	chr11:4470402-4470586	HepG2	liver:	n/a	chr11:4470495-4470510
33	MAZ	chr11:4464225-4464245	HepG2	liver:	n/a	n/a
34	MYC	chr11:4471245-4471332	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr11:4455199-4455387	MCF10A-Er-Src	breast:	n/a	n/a
36	NFYB	chr11:4469915-4469975	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:4475533-4475740	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:4450296-4450361	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:4474127-4474297	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:4475977-4476071	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:4452937-4453053	Gliobla	brain:	n/a	n/a
42	POLR2A	chr11:4470809-4470831	A549	lung:	n/a	n/a
43	POLR2A	chr11:4450748-4450782	K562	blood:	n/a	n/a
44	POLR2A	chr11:4471045-4471075	A549	lung:	n/a	n/a
45	POLR2A	chr11:4452798-4453099	A549	lung:	n/a	n/a
46	POLR2A	chr11:4476067-4476152	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:4475557-4475745	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr11:4471093-4471127	A549	lung:	n/a	n/a
49	POLR2A	chr11:4462703-4463219	HL-60	blood:	n/a	n/a
50	POLR2A	chr11:4470762-4470797	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4469894-4469944	NT2-D1	testis:	n/a
2	chr11:4469894-4469944	NT2-D1	testis:	n/a
3	chr11:4456403-4456453	ECC-1	luminal epithelium:	n/a
4	chr11:4469894-4469944	K562	blood:	n/a
5	chr11:4456403-4456453	MCF-7	breast:	n/a
6	chr11:4469894-4469944	SKMC	muscle:	n/a
7	chr11:4469604-4469654	HCF	heart:	n/a
8	chr11:4469894-4469944	HAEpiC	amniotic membrane:	n/a
9	chr11:4471362-4471412	HCF	heart:	n/a
10	chr11:4456403-4456453	ovcar-3	ovarian:	n/a
11	chr11:4471362-4471412	ovcar-3	ovarian:	n/a
12	chr11:4469604-4469654	Hela-S3	cervix:	n/a
13	chr11:4469604-4469654	SK-N-SH	brain:	n/a
14	chr11:4471362-4471412	NHDF-neo	bronchial:	n/a
15	chr11:4471362-4471412	A549	lung:	n/a
16	chr11:4471362-4471412	HEEpiC	esophagus:	n/a
17	chr11:4469073-4469123	HEK293	kidney:	embryo
18	chr11:4469894-4469944	PFSK-1	brain:	n/a
19	chr11:4469604-4469654	HepG2	liver:	n/a
20	chr11:4456403-4456453	H1-hESC	embryonic stem cell:	embryo
21	chr11:4469894-4469944	A549	lung:	n/a
22	chr11:4456403-4456453	NH-A	brain:	n/a
23	chr11:4471362-4471412	HUVEC	blood vessel:	n/a
24	chr11:4471362-4471412	U87	brain:	n/a
25	chr11:4469604-4469654	GM12878	blood:	n/a
26	chr11:4469073-4469123	PrEC	prostate:	n/a
27	chr11:4456403-4456453	HRCEpiC	kidney:	n/a
28	chr11:4469604-4469654	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:4469073-4469123	LNCaP	prostate:	n/a
30	chr11:4456403-4456453	HCF	heart:	n/a
31	chr11:4471362-4471412	RPTEC	kidney:	n/a
32	chr11:4456403-4456453	PFSK-1	brain:	n/a
33	chr11:4469894-4469944	Hepatocyte	liver:	n/a
34	chr11:4469604-4469654	A549	lung:	n/a
35	chr11:4456403-4456453	NHDF-neo	bronchial:	n/a
36	chr11:4469604-4469654	NB4	blood:	n/a
37	chr11:4469604-4469654	RPTEC	kidney:	n/a
38	chr11:4469604-4469654	HRE	kidney:	n/a
39	chr11:4469073-4469123	HPAEpiC	pulmonary alveolar:	n/a
40	chr11:4471362-4471412	SAEC	small airway:	n/a
41	chr11:4469894-4469944	PrEC	prostate:	n/a
42	chr11:4469604-4469654	U87	brain:	n/a
43	chr11:4469894-4469944	AG10803	skin:	n/a
44	chr11:4456403-4456453	HIPEpiC	eye:	n/a
45	chr11:4469604-4469654	GM12892	blood:	n/a
46	chr11:4469073-4469123	HepG2	liver:	n/a
47	chr11:4456403-4456453	HCPEpiC	choroid plexus:	n/a
48	chr11:4469894-4469944	Hela-S3	cervix:	n/a
49	chr11:4456403-4456453	GM12878	blood:	n/a
50	chr11:4471362-4471412	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:4451655..4453436-chr11:4454768..4456529,2	K562	blood:
2	chr11:4441835..4444233-chr11:4445411..4447480,2	K562	blood:
3	chr11:4441835..4444233-chr11:4445411..4447480,2	K562	blood:
4	chr11:4451655..4453436-chr11:4454768..4456529,2	K562	blood:
5	chr11:4453118..4455290-chr11:4455987..4457955,2	MCF-7	breast:

Variant related genes	Relation type
OR52P2P	TF binding region
ENSG00000221030	TF binding region
OR52K2	TF binding region
OR52P2P	CpG island
ENSG00000221030	CpG island
OR52K2	CpG island
ENSG00000171999	chromatin interactions

Extended variants
information (count: 1805 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1805 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11032216	chr11:4441838-4441839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554524175	chr11:4441896-4441897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577208812	chr11:4441898-4441899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556762383	chr11:4441900-4441901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538394084	chr11:4441907-4441908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553454478	chr11:4441919-4441920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561724931	chr11:4441922-4441923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527280199	chr11:4441923-4441924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370013247	chr11:4441936-4441937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76814280	chr11:4441937-4441938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377194104	chr11:4441938-4441939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542828052	chr11:4442013-4442014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554445091	chr11:4442035-4442036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549176567	chr11:4442039-4442040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576318756	chr11:4442042-4442043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538361565	chr11:4442059-4442060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186408928	chr11:4442070-4442071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572723981	chr11:4442072-4442073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562914446	chr11:4442076-4442077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141375105	chr11:4442083-4442084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116260318	chr11:4442085-4442086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4405304	chr11:4442091-4442092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4268507	chr11:4442154-4442155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527758213	chr11:4442159-4442160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191247138	chr11:4442191-4442192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567746847	chr11:4442208-4442209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556597737	chr11:4442213-4442214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532072539	chr11:4442221-4442222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1823635	chr11:4442241-4442242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1817086	chr11:4442244-4442245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538259000	chr11:4442263-4442264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553323283	chr11:4442270-4442271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1349533	chr11:4442314-4442315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183407479	chr11:4442327-4442328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35510296	chr11:4442378-4442379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371144117	chr11:4442398-4442399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554789562	chr11:4442399-4442400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576151031	chr11:4442415-4442416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187528088	chr11:4442421-4442422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575751622	chr11:4442428-4442429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570706805	chr11:4442429-4442430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558898101	chr11:4442477-4442478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12417053	chr11:4442480-4442481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1812856	chr11:4442495-4442496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs560267091	chr11:4442539-4442540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566606037	chr11:4442567-4442568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191466152	chr11:4442591-4442592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542748818	chr11:4442596-4442597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561575676	chr11:4442600-4442601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543252160	chr11:4442609-4442610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4440200-4442800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr11:4441600-4444600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:4442800-4443200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:4443200-4444800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:4444600-4444800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr11:4444800-4445400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr11:4444800-4445600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr11:4445400-4453000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:4445600-4447200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:4447200-4447800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:4447800-4448400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:4448400-4453400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:4450600-4453400	Enhancers	Fetal Intestine Small	intestine
14	chr11:4450600-4453600	Enhancers	Fetal Intestine Large	intestine
15	chr11:4450800-4451600	Enhancers	Stomach Mucosa	stomach
16	chr11:4453000-4459600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:4453200-4453400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:4453400-4454800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr11:4454400-4454800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:4454800-4455200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr11:4454800-4455800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr11:4454800-4464800	Weak transcription	Pancreas	Pancrea
23	chr11:4455200-4459200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:4455600-4456200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:4455800-4456600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:4455800-4456800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:4455800-4457400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr11:4456000-4456400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:4456600-4456800	Enhancers	Primary B cells from cord blood	blood
30	chr11:4457400-4458200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr11:4458200-4458400	Enhancers	Primary B cells from cord blood	blood
32	chr11:4458200-4459600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:4458400-4458800	Weak transcription	Primary B cells from cord blood	blood
34	chr11:4459200-4461200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:4459600-4460000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr11:4459600-4462600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:4460000-4460200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr11:4460200-4461800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:4461200-4462800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr11:4461800-4466400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:4462600-4463600	Enhancers	Primary B cells from cord blood	blood
42	chr11:4462600-4465400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr11:4462800-4463200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr11:4463200-4464800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr11:4464000-4464600	Enhancers	Fetal Intestine Small	intestine
46	chr11:4464000-4465400	Enhancers	Spleen	Spleen
47	chr11:4464800-4465000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:4464800-4465400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr11:4464800-4465400	Enhancers	Pancreas	Pancrea
50	chr11:4465000-4465400	Enhancers	HUES6 Cell Line	embryonic stem cell

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