Variant report

Variant	esv3502065
Chromosome Location	chr1:92230864-92234462
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	ATF1	chr1:92231509-92231735	K562	blood:	n/a	n/a
2	CEBPB	chr1:92231495-92231736	HepG2	liver:	n/a	chr1:92231639-92231650
3	CEBPB	chr1:92231054-92232006	K562	blood:	n/a	chr1:92231639-92231650
4	CEBPB	chr1:92231440-92231861	K562	blood:	n/a	chr1:92231639-92231650
5	CEBPB	chr1:92230892-92231782	Hela-S3	cervix:	n/a	chr1:92231639-92231650
6	CEBPB	chr1:92231492-92231777	K562	blood:	n/a	chr1:92231639-92231650
7	CEBPB	chr1:92231531-92231745	IMR90	lung:	n/a	chr1:92231639-92231650
8	CEBPD	chr1:92231416-92231886	K562	blood:	n/a	n/a
9	CEBPD	chr1:92231510-92231917	K562	blood:	n/a	n/a
10	CHD2	chr1:92230934-92231199	Hela-S3	cervix:	n/a	n/a
11	EP300	chr1:92232407-92232866	HepG2	liver:	n/a	n/a
12	EP300	chr1:92230823-92231759	K562	blood:	n/a	n/a
13	EP300	chr1:92230867-92231334	Hela-S3	cervix:	n/a	n/a
14	EP300	chr1:92232479-92232910	HepG2	liver:	n/a	n/a
15	ESR1	chr1:92234430-92234683	ECC-1	luminal epithelium:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
16	ESR1	chr1:92234427-92234647	ECC-1	luminal epithelium:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
17	ESR1	chr1:92234305-92234691	T-47D	breast:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
18	ESR1	chr1:92234394-92234640	ECC-1	luminal epithelium:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
19	ESR1	chr1:92234376-92234651	T-47D	breast:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
20	ESR1	chr1:92234320-92234677	ECC-1	luminal epithelium:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
21	ESR1	chr1:92234291-92234665	ECC-1	luminal epithelium:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
22	ESR1	chr1:92234288-92234696	ECC-1	luminal epithelium:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
23	ESR1	chr1:92234389-92234626	T-47D	breast:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
24	FOXA1	chr1:92232444-92232885	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
25	FOXA1	chr1:92232441-92232954	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
26	FOXA1	chr1:92232375-92232876	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
27	FOXA1	chr1:92232435-92233005	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
28	FOXA2	chr1:92232353-92233108	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
29	FOXA2	chr1:92232435-92232878	HepG2	liver:	n/a	chr1:92232745-92232757 chr1:92232749-92232761
30	GATA2	chr1:92231464-92231779	K562	blood:	n/a	n/a
31	GATA3	chr1:92234267-92234818	MCF-7	breast:	n/a	n/a
32	JUND	chr1:92230910-92231745	K562	blood:	n/a	n/a
33	MAFK	chr1:92230870-92231173	Hela-S3	cervix:	n/a	n/a
34	MAFK	chr1:92232962-92233125	HepG2	liver:	n/a	n/a
35	MAX	chr1:92230744-92231247	Hela-S3	cervix:	n/a	chr1:92231163-92231172
36	MAZ	chr1:92230818-92231094	Hela-S3	cervix:	n/a	n/a
37	MYBL2	chr1:92232389-92232973	HepG2	liver:	n/a	n/a
38	MYC	chr1:92231075-92231095	Hela-S3	cervix:	n/a	n/a
39	MYC	chr1:92230839-92231288	Hela-S3	cervix:	n/a	chr1:92231163-92231172
40	MYC	chr1:92231522-92231739	K562	blood:	n/a	n/a
41	MYC	chr1:92231052-92231071	Hela-S3	cervix:	n/a	n/a
42	MYC	chr1:92230975-92231050	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:92232158-92232677	HepG2	liver:	n/a	n/a
44	RCOR1	chr1:92231074-92231166	HepG2	liver:	n/a	n/a
45	RCOR1	chr1:92231483-92231834	K562	blood:	n/a	n/a
46	RCOR1	chr1:92230923-92231167	Hela-S3	cervix:	n/a	n/a
47	RCOR1	chr1:92231694-92231701	K562	blood:	n/a	n/a
48	REST	chr1:92230901-92231165	K562	blood:	n/a	n/a
49	REST	chr1:92230941-92231152	Hela-S3	cervix:	n/a	n/a
50	SMC3	chr1:92230920-92231198	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:92232541..92234077-chr1:92245076..92247021,2	K562	blood:
2	chr1:92217896..92221069-chr1:92227993..92231134,3	K562	blood:
3	chr1:92231081..92233303-chr1:92233328..92236066,2	K562	blood:

Variant related genes	Relation type
TGFBR3	TF binding region
ENSG00000069702	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530740797	chr1:92230883-92230884	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189740272	chr1:92230908-92230909	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570566742	chr1:92230964-92230965	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528246666	chr1:92231007-92231008	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546388391	chr1:92231052-92231053	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565878888	chr1:92231084-92231085	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575187788	chr1:92231112-92231113	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572112677	chr1:92231130-92231131	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554574249	chr1:92231141-92231142	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75475379	chr1:92231162-92231163	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537361739	chr1:92231173-92231174	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59197518	chr1:92231239-92231240	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577369063	chr1:92231247-92231248	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186824372	chr1:92231264-92231265	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114066736	chr1:92231265-92231266	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114422669	chr1:92231307-92231308	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12044500	chr1:92231325-92231326	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563292730	chr1:92231338-92231339	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191983065	chr1:92231350-92231351	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563987996	chr1:92231351-92231352	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564454673	chr1:92231402-92231403	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552498451	chr1:92231408-92231409	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546425225	chr1:92231409-92231410	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368889913	chr1:92231464-92231465	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567894686	chr1:92231465-92231466	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28676605	chr1:92231482-92231483	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181864884	chr1:92231503-92231504	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548243377	chr1:92231573-92231574	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569959780	chr1:92231574-92231575	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60063061	chr1:92231597-92231598	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs57972277	chr1:92231610-92231611	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373471912	chr1:92231623-92231624	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577771490	chr1:92231624-92231625	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534989569	chr1:92231666-92231667	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563888567	chr1:92231685-92231686	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12089762	chr1:92231726-92231727	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535558119	chr1:92231729-92231730	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs284183	chr1:92231746-92231747	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373456319	chr1:92231755-92231756	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368994697	chr1:92231756-92231757	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373865219	chr1:92231775-92231776	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111976396	chr1:92231791-92231792	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs284184	chr1:92231840-92231841	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189657623	chr1:92231846-92231847	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573121658	chr1:92231848-92231849	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548633857	chr1:92231944-92231945	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540111387	chr1:92231947-92231948	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561563189	chr1:92231952-92231953	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529014907	chr1:92231973-92231974	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182637535	chr1:92232037-92232038	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	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
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:92211800-92235600	Weak transcription	Fetal Kidney	kidney
4	chr1:92213800-92235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:92215200-92232400	Weak transcription	A549	lung
6	chr1:92216800-92241800	Weak transcription	Aorta	Aorta
7	chr1:92217400-92232400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:92217800-92247800	Weak transcription	Small Intestine	intestine
9	chr1:92219400-92238200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:92220400-92234000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:92220600-92255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:92221000-92248000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:92222200-92231000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:92223800-92232000	Enhancers	K562	blood
15	chr1:92224400-92242800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:92224800-92234400	Weak transcription	Right Ventricle	heart
17	chr1:92225200-92232000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:92225200-92235000	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:92225400-92234400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:92225400-92241600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:92226400-92231200	Enhancers	Fetal Heart	heart
22	chr1:92226600-92236400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:92226800-92232000	Enhancers	Placenta	Placenta
24	chr1:92227000-92257200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:92227200-92234600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:92227200-92234800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:92227800-92235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:92228400-92231200	Enhancers	Fetal Lung	lung
29	chr1:92228600-92235200	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:92229200-92231200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:92229200-92232400	Genic enhancers	HepG2	liver
32	chr1:92229200-92241600	Weak transcription	Esophagus	oesophagus
33	chr1:92229400-92235200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:92230000-92231200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:92230000-92231200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:92230000-92231200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:92230000-92231200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:92230000-92231200	Strong transcription	Fetal Stomach	stomach
39	chr1:92230000-92231200	Strong transcription	NHLF	lung
40	chr1:92230200-92231000	Enhancers	Hela-S3	cervix
41	chr1:92230200-92231200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:92230200-92231200	Enhancers	Pancreas	Pancrea
43	chr1:92230200-92231200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr1:92230200-92232800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:92230200-92234400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:92230200-92240800	Weak transcription	Right Atrium	heart
47	chr1:92230400-92231000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:92230400-92231000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:92230400-92231200	Enhancers	Ovary	ovary
50	chr1:92230400-92231200	Enhancers	Psoas Muscle	Psoas

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