Variant report

Variant	nsv562358
Chromosome Location	chr13:76210085-76210742
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	chr13:76210544-76210937	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr13:76209632-76210184	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr13:76210410-76210755	GM12878	blood:	n/a	chr13:76210665-76210678
4	BHLHE40	chr13:76210644-76210946	K562	blood:	n/a	n/a
5	BHLHE40	chr13:76209695-76210786	GM12878	blood:	n/a	chr13:76210232-76210248 chr13:76209876-76209885 chr13:76209876-76209885
6	BHLHE40	chr13:76209286-76211225	HepG2	liver:	n/a	chr13:76210232-76210248 chr13:76209876-76209885 chr13:76209876-76209885
7	CCNT2	chr13:76210212-76210580	K562	blood:	n/a	n/a
8	CEBPB	chr13:76209805-76210195	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr13:76210513-76210553	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr13:76209769-76213065	IMR90	lung:	n/a	chr13:76211314-76211324 chr13:76210708-76210718
11	CHD2	chr13:76210611-76210825	H1-hESC	embryonic stem cell:	n/a	chr13:76210708-76210718
12	CHD2	chr13:76209977-76210177	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr13:76209851-76210949	Hela-S3	cervix:	n/a	chr13:76210708-76210718
14	CHD2	chr13:76210130-76210396	HepG2	liver:	n/a	n/a
15	CHD2	chr13:76210523-76210961	GM12878	blood:	n/a	chr13:76210708-76210718
16	CHD2	chr13:76210660-76211179	HepG2	liver:	n/a	chr13:76210708-76210718
17	CTBP2	chr13:76209655-76210231	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr13:76210449-76211292	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr13:76210440-76210590	GM12870	blood:	n/a	n/a
20	CTCF	chr13:76210180-76210330	HMEC	breast:	n/a	n/a
21	CTCF	chr13:76210000-76210150	GM12868	blood:	n/a	n/a
22	CTCF	chr13:76210160-76210310	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr13:76210580-76210730	GM12871	blood:	n/a	n/a
24	CTCF	chr13:76210020-76210170	AG04449	skin:	n/a	n/a
25	CTCF	chr13:76210060-76210210	GM12875	blood:	n/a	n/a
26	CTCF	chr13:76210080-76210230	GM12874	blood:	n/a	n/a
27	CTCF	chr13:76210680-76210830	GM12869	blood:	n/a	n/a
28	CTCF	chr13:76210200-76210350	AG09309	skin:	n/a	n/a
29	CTCF	chr13:76210160-76210310	GM12869	blood:	n/a	n/a
30	CTCF	chr13:76210000-76210150	GM12873	blood:	n/a	n/a
31	CTCF	chr13:76210280-76210430	GM12864	blood:	n/a	n/a
32	CTCF	chr13:76209940-76210090	GM12864	blood:	n/a	n/a
33	CTCF	chr13:76209980-76210130	GM12867	blood:	n/a	n/a
34	CTCF	chr13:76210200-76210350	GM12866	blood:	n/a	n/a
35	CTCF	chr13:76210180-76210330	GM12871	blood:	n/a	n/a
36	CTCF	chr13:76210560-76210710	GM06990	blood:	n/a	n/a
37	CTCF	chr13:76210260-76210410	GM12875	blood:	n/a	n/a
38	CTCF	chr13:76210640-76210790	GM12873	blood:	n/a	n/a
39	E2F4	chr13:76210485-76210776	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F6	chr13:76210403-76210720	A549	lung:	n/a	n/a
41	E2F6	chr13:76209388-76211970	H1-hESC	embryonic stem cell:	n/a	chr13:76211315-76211324 chr13:76209728-76209740 chr13:76209983-76209995 chr13:76209839-76209848 chr13:76210032-76210041 chr13:76209560-76209572 chr13:76209568-76209577 chr13:76211075-76211084 chr13:76209408-76209415
42	E2F6	chr13:76210397-76210894	A549	lung:	n/a	n/a
43	E2F6	chr13:76210373-76210811	K562	blood:	n/a	n/a
44	E2F6	chr13:76209429-76210204	H1-hESC	embryonic stem cell:	n/a	chr13:76209728-76209740 chr13:76209983-76209995 chr13:76209839-76209848 chr13:76210032-76210041 chr13:76209560-76209572 chr13:76209568-76209577
45	E2F6	chr13:76210327-76211112	H1-hESC	embryonic stem cell:	n/a	chr13:76211075-76211084
46	EBF1	chr13:76210062-76210368	GM12878	blood:	n/a	n/a
47	EBF1	chr13:76210639-76210831	GM12878	blood:	n/a	n/a
48	EBF1	chr13:76210209-76210371	GM12878	blood:	n/a	n/a
49	EGR1	chr13:76209721-76210361	ECC-1	luminal epithelium:	n/a	chr13:76210011-76210021 chr13:76210025-76210039 chr13:76210338-76210348 chr13:76209941-76209951 chr13:76210051-76210065
50	EGR1	chr13:76209643-76210272	ECC-1	luminal epithelium:	n/a	chr13:76210011-76210021 chr13:76210025-76210039 chr13:76209941-76209951 chr13:76210051-76210065

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:76210054-76210104	ovcar-3	ovarian:	n/a
2	chr13:76210054-76210104	RPTEC	kidney:	n/a
3	chr13:76210054-76210104	MCF10A-Er-Src	breast:	n/a
4	chr13:76210054-76210104	AG09309	skin:	n/a
5	chr13:76210054-76210104	IMR90	lung:	fetal
6	chr13:76210054-76210104	AG04450	lung:	fetal
7	chr13:76210054-76210104	HAEpiC	amniotic membrane:	n/a
8	chr13:76210054-76210104	GM12878	blood:	n/a
9	chr13:76210054-76210104	HCT-116	colon:	n/a
10	chr13:76210054-76210104	HIPEpiC	eye:	n/a
11	chr13:76210054-76210104	SKMC	muscle:	n/a
12	chr13:76210054-76210104	HEK293	kidney:	embryo
13	chr13:76210054-76210104	CMK	blood:	n/a
14	chr13:76210054-76210104	BJ	skin:	n/a
15	chr13:76210054-76210104	ProgFib	skin:	n/a
16	chr13:76210054-76210104	HPAEpiC	pulmonary alveolar:	n/a
17	chr13:76210054-76210104	HRCEpiC	kidney:	n/a
18	chr13:76210054-76210104	HRE	kidney:	n/a
19	chr13:76210054-76210104	AoSMC	blood vessel:	n/a
20	chr13:76210054-76210104	HCPEpiC	choroid plexus:	n/a
21	chr13:76210054-76210104	U87	brain:	n/a
22	chr13:76210054-76210104	NHDF-neo	bronchial:	n/a
23	chr13:76210054-76210104	Caco-2	colon:	n/a
24	chr13:76210054-76210104	Jurkat	blood:	n/a
25	chr13:76210054-76210104	NHBE	bronchial:	n/a
26	chr13:76210054-76210104	HCF	heart:	n/a
27	chr13:76210054-76210104	SK-N-SH	brain:	n/a
28	chr13:76210054-76210104	GM19239	blood:	n/a
29	chr13:76210054-76210104	HEEpiC	esophagus:	n/a
30	chr13:76210054-76210104	HCM	heart:	n/a
31	chr13:76210054-76210104	Hela-S3	cervix:	n/a
32	chr13:76210054-76210104	HepG2	liver:	n/a
33	chr13:76210054-76210104	H1-hESC	embryonic stem cell:	embryo
34	chr13:76210054-76210104	AG09319	gingival:	n/a
35	chr13:76210054-76210104	HL-60	blood:	n/a
36	chr13:76210054-76210104	GM12892	blood:	n/a
37	chr13:76210054-76210104	SAEC	small airway:	n/a
38	chr13:76210054-76210104	AG04449	skin:	fetal
39	chr13:76210054-76210104	K562	blood:	n/a
40	chr13:76210054-76210104	NH-A	brain:	n/a
41	chr13:76210054-76210104	PFSK-1	brain:	n/a
42	chr13:76210054-76210104	HNPCEpiC	eye:	n/a
43	chr13:76210054-76210104	MCF-7	breast:	n/a
44	chr13:76210054-76210104	Hepatocyte	liver:	n/a
45	chr13:76210054-76210104	HRPEpiC	eye:	n/a
46	chr13:76210054-76210104	A549	lung:	n/a
47	chr13:76210054-76210104	GM06990	blood:	n/a
48	chr13:76210054-76210104	PrEC	prostate:	n/a
49	chr13:76210054-76210104	NB4	blood:	n/a
50	chr13:76210054-76210104	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76194856..76197534-chr13:76208958..76210482,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD6-2	chr13:76209965-76210130	ENSG00000261105.1
2	lnc-COMMD6-2	chr13:76209965-76210130	ENSG00000261105.1

Variant related genes	Relation type
ENSG00000261105	TF binding region
LMO7	TF binding region
ENSG00000261105	CpG island
LMO7	CpG island
ENSG00000136153	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76973625	chr13:76210114-76210115	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs576941774	chr13:76210145-76210146	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540999924	chr13:76210170-76210171	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs559301757	chr13:76210192-76210193	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs2281764	chr13:76210233-76210234	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548856804	chr13:76210261-76210262	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2281765	chr13:76210324-76210325	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs531090760	chr13:76210342-76210343	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs552817557	chr13:76210525-76210526	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs570532409	chr13:76210569-76210570	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534683311	chr13:76210580-76210581	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546750242	chr13:76210597-76210598	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs568037853	chr13:76210706-76210707	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs535109251	chr13:76210708-76210709	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs557219243	chr13:76210717-76210718	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575489744	chr13:76210726-76210727	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563847255	chr13:76210734-76210735	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111914364	chr13:76210742-76210743	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76208000-76211600	Active TSS	Osteobl	bone
2	chr13:76208600-76210600	Active TSS	Placenta	Placenta
3	chr13:76208600-76211400	Active TSS	Muscle Satellite Cultured Cells	--
4	chr13:76208600-76211800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:76208600-76215000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:76209000-76212000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr13:76209000-76212200	Active TSS	HSMM	muscle
8	chr13:76209000-76214400	Active TSS	NHDF-Ad	bronchial
9	chr13:76209200-76210600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr13:76209200-76211400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr13:76209200-76211600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr13:76209200-76211800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr13:76209200-76212000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:76209200-76212200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr13:76209200-76212200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr13:76209200-76213600	Active TSS	NHLF	lung
17	chr13:76209200-76214800	Active TSS	HSMMtube	muscle
18	chr13:76209400-76210200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:76209400-76210600	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr13:76209400-76210600	Active TSS	NHEK	skin
21	chr13:76209400-76210800	Active TSS	Primary T cells from cord blood	blood
22	chr13:76209400-76210800	Active TSS	Fetal Kidney	kidney
23	chr13:76209400-76210800	Active TSS	Pancreas	Pancrea
24	chr13:76209400-76211000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr13:76209400-76211400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr13:76209400-76211400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:76209400-76211600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr13:76209400-76211600	Active TSS	Ovary	ovary
29	chr13:76209400-76211800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:76209400-76211800	Active TSS	Fetal Lung	lung
31	chr13:76209400-76212000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:76209400-76212200	Active TSS	Aorta	Aorta
33	chr13:76209600-76210200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:76209600-76210200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:76209600-76210200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr13:76209600-76210200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:76209600-76210200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr13:76209600-76210200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr13:76209600-76210200	Flanking Active TSS	Right Ventricle	heart
40	chr13:76209600-76210200	Flanking Active TSS	HMEC	breast
41	chr13:76209600-76210200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
42	chr13:76209600-76210600	Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr13:76209600-76210600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:76209600-76210600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr13:76209600-76210600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:76209600-76210600	Active TSS	Duodenum Mucosa	Duodenum
47	chr13:76209600-76210600	Bivalent Enhancer	Fetal Brain Male	brain
48	chr13:76209600-76210600	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr13:76209600-76210600	Active TSS	Hela-S3	cervix
50	chr13:76209600-76210600	Active TSS	HUVEC	blood vessel

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