Variant report

Variant	nsv534171
Chromosome Location	chr10:96453830-96612764
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	chr10:96487896-96488218	IMR90	lung:	n/a	chr10:96488055-96488066
2	CEBPB	chr10:96504015-96504089	HepG2	liver:	n/a	chr10:96504062-96504073
3	CEBPB	chr10:96485737-96485940	A549	lung:	n/a	n/a
4	CEBPB	chr10:96485885-96485913	K562	blood:	n/a	n/a
5	CEBPB	chr10:96487903-96488237	HepG2	liver:	n/a	chr10:96488055-96488066
6	CEBPB	chr10:96520862-96521099	HepG2	liver:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
7	CEBPB	chr10:96581454-96581783	HepG2	liver:	n/a	chr10:96581633-96581644
8	CEBPB	chr10:96487899-96488178	A549	lung:	n/a	chr10:96488055-96488066
9	CEBPB	chr10:96610935-96611206	A549	lung:	n/a	chr10:96611099-96611110
10	CEBPB	chr10:96581486-96581791	A549	lung:	n/a	chr10:96581633-96581644
11	CEBPB	chr10:96520891-96521011	IMR90	lung:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
12	CEBPB	chr10:96610933-96611257	IMR90	lung:	n/a	chr10:96611099-96611110
13	CEBPB	chr10:96610998-96611149	K562	blood:	n/a	chr10:96611099-96611110
14	CEBPB	chr10:96487954-96488117	H1-hESC	embryonic stem cell:	n/a	chr10:96488055-96488066
15	CEBPB	chr10:96610925-96611288	HepG2	liver:	n/a	chr10:96611099-96611110
16	CEBPB	chr10:96507808-96507867	A549	lung:	n/a	n/a
17	CEBPB	chr10:96543674-96543868	A549	lung:	n/a	chr10:96543736-96543747
18	CEBPB	chr10:96485747-96485947	IMR90	lung:	n/a	n/a
19	CEBPB	chr10:96520913-96521049	A549	lung:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
20	CEBPB	chr10:96543674-96543836	HepG2	liver:	n/a	chr10:96543736-96543747
21	CTCF	chr10:96577722-96577829	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr10:96596395-96596418	LNCaP	prostate:	n/a	n/a
23	CTCF	chr10:96530820-96530970	HEK293	kidney:	n/a	n/a
24	CTCF	chr10:96552160-96552310	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr10:96517820-96517970	HepG2	liver:	n/a	n/a
26	CTCF	chr10:96570817-96570874	GM13976	blood:	n/a	n/a
27	CTCF	chr10:96563080-96563230	RPTEC	kidney:	n/a	n/a
28	CTCF	chr10:96562980-96563130	RPTEC	kidney:	n/a	n/a
29	CTCF	chr10:96516926-96516994	Medullo	brain:	n/a	n/a
30	CTCF	chr10:96534991-96535093	GM20000	blood:	n/a	n/a
31	CTCF	chr10:96563100-96563250	MCF-7	breast:	n/a	n/a
32	CTCF	chr10:96512231-96512340	MCF-7	breast:	n/a	n/a
33	CTCF	chr10:96563126-96563151	HepG2	liver:	n/a	n/a
34	CTCF	chr10:96505096-96505149	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr10:96512257-96512384	MCF-7	breast:	n/a	n/a
36	CTCF	chr10:96530910-96530967	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F4	chr10:96511121-96511131	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr10:96485613-96486005	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr10:96545074-96545211	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr10:96485608-96485959	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr10:96485600-96485967	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr10:96545059-96545259	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr10:96485593-96486022	MCF10A-Er-Src	breast:	n/a	n/a
44	FOSL2	chr10:96507580-96508009	A549	lung:	n/a	n/a
45	FOSL2	chr10:96485580-96486030	A549	lung:	n/a	n/a
46	FOXA1	chr10:96537776-96538168	HepG2	liver:	n/a	n/a
47	FOXA1	chr10:96537857-96538090	A549	lung:	n/a	n/a
48	FOXA1	chr10:96537765-96538162	HepG2	liver:	n/a	n/a
49	FOXA1	chr10:96537732-96538220	HepG2	liver:	n/a	n/a
50	FOXA1	chr10:96573127-96573504	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96521086-96521136	HCM	heart:	n/a
2	chr10:96522433-96522483	GM12891	blood:	n/a
3	chr10:96521086-96521136	PFSK-1	brain:	n/a
4	chr10:96523248-96523298	HCM	heart:	n/a
5	chr10:96521152-96521202	HL-60	blood:	n/a
6	chr10:96521152-96521202	GM12878	blood:	n/a
7	chr10:96521152-96521202	SAEC	small airway:	n/a
8	chr10:96521086-96521136	Hepatocyte	liver:	n/a
9	chr10:96521152-96521202	GM19239	blood:	n/a
10	chr10:96521152-96521202	MCF10A-Er-Src	breast:	n/a
11	chr10:96521152-96521202	HIPEpiC	eye:	n/a
12	chr10:96523248-96523298	AG10803	skin:	n/a
13	chr10:96523248-96523298	HCT-116	colon:	n/a
14	chr10:96523248-96523298	GM12891	blood:	n/a
15	chr10:96521152-96521202	NT2-D1	testis:	n/a
16	chr10:96521086-96521136	NHDF-neo	bronchial:	n/a
17	chr10:96522433-96522483	BE2_C	brain:	n/a
18	chr10:96523347-96523397	NHBE	bronchial:	n/a
19	chr10:96523248-96523298	SKMC	muscle:	n/a
20	chr10:96523248-96523298	HRCEpiC	kidney:	n/a
21	chr10:96522433-96522483	HCPEpiC	choroid plexus:	n/a
22	chr10:96521152-96521202	NH-A	brain:	n/a
23	chr10:96521086-96521136	HepG2	liver:	n/a
24	chr10:96522433-96522483	HRE	kidney:	n/a
25	chr10:96522433-96522483	ProgFib	skin:	n/a
26	chr10:96523347-96523397	HRE	kidney:	n/a
27	chr10:96521086-96521136	BJ	skin:	n/a
28	chr10:96523347-96523397	IMR90	lung:	fetal
29	chr10:96523248-96523298	HMEC	breast:	n/a
30	chr10:96523347-96523397	HCM	heart:	n/a
31	chr10:96521152-96521202	HEK293	kidney:	embryo
32	chr10:96522433-96522483	HepG2	liver:	n/a
33	chr10:96523347-96523397	GM12892	blood:	n/a
34	chr10:96521086-96521136	SKMC	muscle:	n/a
35	chr10:96522433-96522483	SAEC	small airway:	n/a
36	chr10:96521152-96521202	AG10803	skin:	n/a
37	chr10:96523347-96523397	GM06990	blood:	n/a
38	chr10:96523347-96523397	ovcar-3	ovarian:	n/a
39	chr10:96523248-96523298	NB4	blood:	n/a
40	chr10:96522433-96522483	NHDF-neo	bronchial:	n/a
41	chr10:96521152-96521202	ECC-1	luminal epithelium:	n/a
42	chr10:96521086-96521136	HAEpiC	amniotic membrane:	n/a
43	chr10:96523347-96523397	ProgFib	skin:	n/a
44	chr10:96521086-96521136	GM12892	blood:	n/a
45	chr10:96523347-96523397	BE2_C	brain:	n/a
46	chr10:96523248-96523298	AG09319	gingival:	n/a
47	chr10:96522433-96522483	MCF10A-Er-Src	breast:	n/a
48	chr10:96523248-96523298	SK-N-SH	brain:	n/a
49	chr10:96522433-96522483	GM19239	blood:	n/a
50	chr10:96522433-96522483	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96479612..96481874-chr10:96483604..96486212,2	MCF-7	breast:
2	chr10:96479612..96481874-chr10:96483604..96486212,2	MCF-7	breast:

Variant related genes	Relation type
CYP2C19	TF binding region
MTND4P19	TF binding region
CYP2C19	CpG island
MTND4P19	CpG island

Extended variants
information (count: 7714 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:7714 , 50 per page) page: 1 2 3 4 5 6 7 ... 155

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183716263	chr10:96453838-96453839	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559793987	chr10:96453857-96453858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571548441	chr10:96453880-96453881	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548509119	chr10:96453888-96453889	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12569873	chr10:96453904-96453905	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs188033318	chr10:96453932-96453933	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375445278	chr10:96453958-96453959	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539540182	chr10:96453993-96453994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138580405	chr10:96453997-96453998	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570495444	chr10:96454029-96454030	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12243416	chr10:96454156-96454157	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs114442713	chr10:96454180-96454181	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566657627	chr10:96454187-96454188	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535701040	chr10:96454195-96454196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181241469	chr10:96454213-96454214	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117922738	chr10:96454215-96454216	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185295311	chr10:96454237-96454238	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1326835	chr10:96454241-96454242	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576871814	chr10:96454275-96454276	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149289386	chr10:96454326-96454327	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76944017	chr10:96454328-96454329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536816463	chr10:96454375-96454376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79053633	chr10:96454438-96454439	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146250552	chr10:96454441-96454442	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562175434	chr10:96454466-96454467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531113765	chr10:96454479-96454480	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556003137	chr10:96454504-96454505	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550737780	chr10:96454552-96454553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138083799	chr10:96454568-96454569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142675584	chr10:96454573-96454574	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546288967	chr10:96454607-96454608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372128776	chr10:96454631-96454632	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566434895	chr10:96454638-96454639	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373019823	chr10:96454666-96454667	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36045679	chr10:96454668-96454669	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112350653	chr10:96454669-96454670	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370796169	chr10:96454673-96454674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558620955	chr10:96454674-96454675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202163378	chr10:96454675-96454676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373749082	chr10:96454684-96454685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116092201	chr10:96454687-96454688	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11188056	chr10:96454700-96454701	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575087980	chr10:96454715-96454716	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139238143	chr10:96454719-96454720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376802839	chr10:96454745-96454746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141271146	chr10:96454748-96454749	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200638718	chr10:96454753-96454754	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs41303835	chr10:96454755-96454756	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374650806	chr10:96454759-96454760	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115269792	chr10:96454768-96454769	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oligozoospermia	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96447200-96504800	Weak transcription	Stomach Mucosa	stomach
2	chr10:96449800-96455000	Weak transcription	Esophagus	oesophagus
3	chr10:96449800-96456400	Weak transcription	Gastric	stomach
4	chr10:96450000-96455200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr10:96450000-96471400	Weak transcription	Fetal Intestine Large	intestine
6	chr10:96453000-96456200	Strong transcription	Liver	Liver
7	chr10:96453400-96455000	Weak transcription	Fetal Intestine Small	intestine
8	chr10:96455000-96455600	ZNF genes & repeats	Esophagus	oesophagus
9	chr10:96455000-96456600	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr10:96455200-96456200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr10:96456200-96462800	Weak transcription	Liver	Liver
12	chr10:96456200-96463800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr10:96456600-96462800	Weak transcription	Fetal Intestine Small	intestine
14	chr10:96462800-96463200	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr10:96462800-96469800	Strong transcription	Liver	Liver
16	chr10:96463200-96465200	Strong transcription	Fetal Intestine Small	intestine
17	chr10:96463800-96468000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr10:96464600-96466000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr10:96465000-96465600	Enhancers	Colonic Mucosa	Colon
20	chr10:96465200-96467000	Weak transcription	Fetal Intestine Small	intestine
21	chr10:96465400-96465800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr10:96466000-96466400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr10:96466400-96466800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr10:96467000-96467400	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr10:96467400-96469800	Weak transcription	Fetal Intestine Small	intestine
26	chr10:96468000-96477400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:96469800-96470000	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr10:96469800-96471000	Genic enhancers	Liver	Liver
29	chr10:96470000-96471200	Weak transcription	Fetal Intestine Small	intestine
30	chr10:96471000-96472600	Strong transcription	Liver	Liver
31	chr10:96471200-96472000	Strong transcription	Fetal Intestine Small	intestine
32	chr10:96471400-96471600	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr10:96472000-96474600	Weak transcription	Fetal Intestine Small	intestine
34	chr10:96472600-96476800	Weak transcription	Liver	Liver
35	chr10:96476800-96477400	Strong transcription	Liver	Liver
36	chr10:96477400-96478600	ZNF genes & repeats	Liver	Liver
37	chr10:96477400-96478600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr10:96477800-96489400	Weak transcription	Fetal Intestine Large	intestine
39	chr10:96478600-96479200	Weak transcription	Fetal Intestine Small	intestine
40	chr10:96478600-96484000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr10:96478600-96490800	Strong transcription	Liver	Liver
42	chr10:96479200-96480400	Strong transcription	Fetal Intestine Small	intestine
43	chr10:96480000-96482800	Weak transcription	Gastric	stomach
44	chr10:96480400-96487000	Weak transcription	Fetal Intestine Small	intestine
45	chr10:96484000-96484800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr10:96484800-96502600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr10:96487000-96487400	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr10:96487400-96500800	Weak transcription	Fetal Intestine Small	intestine
49	chr10:96490800-96492400	Weak transcription	Liver	Liver
50	chr10:96492400-96493800	Enhancers	Liver	Liver

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