Variant report

Variant	nsv598667
Chromosome Location	chr5:74348841-74349437
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	BACH1	chr5:74348686-74350492	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr5:74349196-74349715	HepG2	liver:	n/a	chr5:74349390-74349406 chr5:74349377-74349393 chr5:74349389-74349405
3	BRCA1	chr5:74349319-74349422	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:74348978-74349139	Hela-S3	cervix:	n/a	n/a
5	CHD1	chr5:74347519-74350428	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr5:74349347-74349703	HepG2	liver:	n/a	n/a
7	CHD2	chr5:74349147-74349199	Hela-S3	cervix:	n/a	n/a
8	CREB1	chr5:74349380-74349941	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr5:74349249-74349726	A549	lung:	n/a	n/a
10	CREB1	chr5:74349300-74350258	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:74349118-74349298	Gliobla	brain:	n/a	chr5:74349166-74349179
12	CTCF	chr5:74349094-74349215	LNCaP	prostate:	n/a	chr5:74349166-74349179
13	CTCF	chr5:74349160-74349310	HEEpiC	esophagus:	n/a	chr5:74349166-74349179
14	CTCF	chr5:74349100-74349305	MCF-7	breast:	n/a	chr5:74349166-74349179
15	CTCF	chr5:74349180-74349330	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr5:74349086-74349159	Lung_OC	lung:	n/a	n/a
17	CTCF	chr5:74349081-74349305	NHEK	skin:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
18	CTCF	chr5:74349100-74349250	HMEC	breast:	n/a	chr5:74349166-74349179
19	CTCF	chr5:74349251-74349252	LNCaP	prostate:	n/a	n/a
20	CTCF	chr5:74349120-74349270	GM12866	blood:	n/a	chr5:74349166-74349179
21	CTCF	chr5:74349240-74349390	HAc	cerebellar:	n/a	n/a
22	CTCF	chr5:74349114-74349352	GM19239	blood:	n/a	chr5:74349166-74349179
23	CTCF	chr5:74349100-74349250	HUVEC	blood vessel:	n/a	chr5:74349166-74349179
24	CTCF	chr5:74349080-74349230	HFF	foreskin:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
25	CTCF	chr5:74349420-74349570	GM12871	blood:	n/a	n/a
26	CTCF	chr5:74349060-74349210	AG10803	skin:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
27	CTCF	chr5:74349216-74349239	LNCaP	prostate:	n/a	n/a
28	CTCF	chr5:74349140-74349290	GM12869	blood:	n/a	chr5:74349166-74349179
29	CTCF	chr5:74349174-74349188	GM13977	blood:	n/a	n/a
30	CTCF	chr5:74349120-74349270	HCFaa	heart:	n/a	chr5:74349166-74349179
31	CTCF	chr5:74348860-74349010	AG04449	skin:	n/a	chr5:74348931-74348944 chr5:74348985-74348998 chr5:74348986-74348999
32	CTCF	chr5:74349000-74349150	HVMF	connective:	n/a	chr5:74349084-74349097
33	CTCF	chr5:74349100-74349250	AoAF	blood vessel:	n/a	chr5:74349166-74349179
34	CTCF	chr5:74349420-74349570	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:74349131-74349231	Pancreas_OC	pancreas:	n/a	chr5:74349166-74349179
36	CTCF	chr5:74349120-74349270	AoAF	blood vessel:	n/a	chr5:74349166-74349179
37	CTCF	chr5:74349120-74349270	HBMEC	blood vessel:	n/a	chr5:74349166-74349179
38	CTCF	chr5:74349100-74349250	GM12864	blood:	n/a	chr5:74349166-74349179
39	CTCF	chr5:74349420-74349570	HCM	heart:	n/a	n/a
40	CTCF	chr5:74349120-74349270	AG04450	lung:	n/a	chr5:74349166-74349179
41	CTCF	chr5:74349080-74349230	SK-N-SH_RA	brain:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
42	CTCF	chr5:74348983-74349706	IMR90	lung:	n/a	chr5:74349084-74349097 chr5:74348985-74348998 chr5:74349166-74349179 chr5:74348986-74348999
43	CTCF	chr5:74349140-74349290	WI-38	lung:	n/a	chr5:74349166-74349179
44	CTCF	chr5:74349180-74349330	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr5:74349140-74349290	HEK293	kidney:	n/a	chr5:74349166-74349179
46	CTCF	chr5:74349086-74349294	GM12891	blood:	n/a	chr5:74349166-74349179
47	CTCF	chr5:74348700-74348850	GM12871	blood:	n/a	n/a
48	CTCF	chr5:74348800-74348950	GM12875	blood:	n/a	chr5:74348931-74348944
49	CTCF	chr5:74349080-74349230	GM12871	blood:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
50	CTCF	chr5:74349120-74349270	GM12875	blood:	n/a	chr5:74349166-74349179

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74348903-74348953	HAEpiC	amniotic membrane:	n/a
2	chr5:74348903-74348953	HL-60	blood:	n/a
3	chr5:74348903-74348953	RPTEC	kidney:	n/a
4	chr5:74348903-74348953	HRPEpiC	eye:	n/a
5	chr5:74348903-74348953	K562	blood:	n/a
6	chr5:74348903-74348953	AG09319	gingival:	n/a
7	chr5:74348903-74348953	GM19239	blood:	n/a
8	chr5:74348903-74348953	HepG2	liver:	n/a
9	chr5:74348903-74348953	MCF10A-Er-Src	breast:	n/a
10	chr5:74348903-74348953	Jurkat	blood:	n/a
11	chr5:74348903-74348953	SK-N-SH_RA	brain:	n/a
12	chr5:74348903-74348953	GM12878	blood:	n/a
13	chr5:74348903-74348953	ECC-1	luminal epithelium:	n/a
14	chr5:74348903-74348953	Caco-2	colon:	n/a
15	chr5:74348903-74348953	Hela-S3	cervix:	n/a
16	chr5:74348903-74348953	ProgFib	skin:	n/a
17	chr5:74348903-74348953	SK-N-SH	brain:	n/a
18	chr5:74348903-74348953	NH-A	brain:	n/a
19	chr5:74348903-74348953	GM06990	blood:	n/a
20	chr5:74348903-74348953	SK-N-MC	brain:	n/a
21	chr5:74348903-74348953	HUVEC	blood vessel:	n/a
22	chr5:74348903-74348953	AG04450	lung:	fetal
23	chr5:74348903-74348953	HCM	heart:	n/a
24	chr5:74348903-74348953	HEK293	kidney:	embryo
25	chr5:74348903-74348953	PFSK-1	brain:	n/a
26	chr5:74348903-74348953	HPAEpiC	pulmonary alveolar:	n/a
27	chr5:74348903-74348953	IMR90	lung:	fetal
28	chr5:74348903-74348953	MCF-7	breast:	n/a
29	chr5:74348903-74348953	A549	lung:	n/a
30	chr5:74348903-74348953	HMEC	breast:	n/a
31	chr5:74348903-74348953	HEEpiC	esophagus:	n/a
32	chr5:74348903-74348953	HCPEpiC	choroid plexus:	n/a
33	chr5:74348903-74348953	NHBE	bronchial:	n/a
34	chr5:74348903-74348953	AG10803	skin:	n/a
35	chr5:74348903-74348953	LNCaP	prostate:	n/a
36	chr5:74348903-74348953	ovcar-3	ovarian:	n/a
37	chr5:74348903-74348953	T-47D	breast:	n/a
38	chr5:74348903-74348953	AG09309	skin:	n/a
39	chr5:74348903-74348953	PANC-1	pancreas:	n/a
40	chr5:74348903-74348953	NHDF-neo	bronchial:	n/a
41	chr5:74348903-74348953	HNPCEpiC	eye:	n/a
42	chr5:74348903-74348953	BE2_C	brain:	n/a
43	chr5:74348903-74348953	HRCEpiC	kidney:	n/a
44	chr5:74348903-74348953	HCF	heart:	n/a
45	chr5:74348903-74348953	AG04449	skin:	fetal
46	chr5:74348903-74348953	SAEC	small airway:	n/a
47	chr5:74348903-74348953	GM12892	blood:	n/a
48	chr5:74348903-74348953	NB4	blood:	n/a
49	chr5:74348903-74348953	HIPEpiC	eye:	n/a
50	chr5:74348903-74348953	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74349068..74351249-chr5:74356524..74358401,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD31-1	chr5:74349340-74349594	NONHSAT102195

Variant related genes	Relation type
ENSG00000250889	TF binding region
ENSG00000250889	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80169829	chr5:74348913-74348914	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs530026777	chr5:74348926-74348927	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs539652825	chr5:74348947-74348948	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs376665354	chr5:74348959-74348960	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566933027	chr5:74348980-74348981	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs149999508	chr5:74349044-74349045	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs11411709	chr5:74349047-74349048	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538788631	chr5:74349068-74349069	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs552654534	chr5:74349076-74349077	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371266068	chr5:74349104-74349105	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs575259567	chr5:74349135-74349136	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs538452902	chr5:74349174-74349175	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555294039	chr5:74349180-74349181	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs575260497	chr5:74349189-74349190	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs536232273	chr5:74349208-74349209	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs577638336	chr5:74349211-74349212	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs76636990	chr5:74349230-74349231	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
18	rs572812695	chr5:74349245-74349246	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112896503	chr5:74349312-74349313	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs544253808	chr5:74349319-74349320	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs187177008	chr5:74349367-74349368	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74346000-74350200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:74346400-74350400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:74347000-74350000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:74347000-74350000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:74347000-74350200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:74347000-74350800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:74347400-74349800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:74347400-74350000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:74347400-74350000	Active TSS	Brain Anterior Caudate	brain
10	chr5:74347400-74350200	Active TSS	Pancreas	Pancrea
11	chr5:74347400-74350200	Active TSS	Stomach Mucosa	stomach
12	chr5:74347400-74350200	Active TSS	NHDF-Ad	bronchial
13	chr5:74347400-74350400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:74347400-74350400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:74347400-74350400	Active TSS	Gastric	stomach
16	chr5:74347600-74349800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr5:74347600-74349800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:74347600-74349800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:74347600-74349800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:74347600-74349800	Active TSS	Fetal Thymus	thymus
21	chr5:74347600-74349800	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr5:74347600-74349800	Active TSS	Thymus	Thymus
23	chr5:74347600-74350000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:74347600-74350000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:74347600-74350000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:74347600-74350000	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr5:74347600-74350000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr5:74347600-74350000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr5:74347600-74350000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:74347600-74350000	Active TSS	Fetal Intestine Small	intestine
31	chr5:74347600-74350200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:74347600-74350200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr5:74347600-74350200	Active TSS	Fetal Intestine Large	intestine
34	chr5:74347600-74350400	Active TSS	Aorta	Aorta
35	chr5:74347600-74350400	Active TSS	Colon Smooth Muscle	Colon
36	chr5:74347600-74350600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr5:74347600-74350600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr5:74347800-74349200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr5:74347800-74349600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:74347800-74349800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:74347800-74349800	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:74347800-74350000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr5:74347800-74350000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:74347800-74350000	Active TSS	NHLF	lung
45	chr5:74347800-74350200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:74347800-74350200	Active TSS	Brain Angular Gyrus	brain
47	chr5:74347800-74350200	Active TSS	Stomach Smooth Muscle	stomach
48	chr5:74347800-74350200	Active TSS	A549	lung
49	chr5:74348000-74349600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:74348000-74349800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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