Variant report

Variant	rs10255779
Chromosome Location	chr7:104939098-104939099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr7:104938532-104939551	HEK293	kidney:	n/a	n/a
2	SIN3A	chr7:104939082-104939405	H1-hESC	embryonic stem cell:	n/a	n/a
3	GATA3	chr7:104938881-104939115	MCF-7	breast:	n/a	n/a
4	EP300	chr7:104938558-104939118	GM12878	blood:	n/a	chr7:104939070-104939080
5	GATA3	chr7:104938745-104939335	MCF-7	breast:	n/a	n/a
6	ZNF384	chr7:104938674-104939107	GM12878	blood:	n/a	n/a
7	GATA3	chr7:104938704-104939399	MCF-7	breast:	n/a	n/a
8	RUNX3	chr7:104938390-104939106	GM12878	blood:	n/a	n/a
9	RAD21	chr7:104938940-104939449	H1-hESC	embryonic stem cell:	n/a	n/a
10	WRNIP1	chr7:104939066-104939246	GM12878	blood:	n/a	n/a
11	RAD21	chr7:104939068-104939351	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF263	chr7:104938937-104939563	HEK293-T-REx	kidney:	n/a	n/a
13	EBF1	chr7:104938557-104939112	GM12878	blood:	n/a	n/a
14	RAD21	chr7:104939078-104939364	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104771792..104774094-chr7:104937728..104939504,2	K562	blood:
2	chr7:104937663..104939344-chr7:105026759..105029557,2	MCF-7	breast:
3	chr7:104924587..104925130-chr7:104938642..104939172,2	MCF-7	breast:

No data

Variant related genes	Relation type
RWDD4P1	TF binding region
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10224564	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10228503	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10230128	0.93[EUR][1000 genomes]
rs10230449	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10233695	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10235252	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10240574	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10248422	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10248954	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10249170	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10252295	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10253496	0.84[ASN][1000 genomes]
rs10258841	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10259721	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10261613	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261738	0.94[ASN][1000 genomes]
rs10261782	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10267633	0.84[ASN][1000 genomes]
rs10272634	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276153	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10280336	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10953473	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11769318	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11769936	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11973742	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11973780	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12537761	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12666949	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12669532	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12705305	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13223001	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13237370	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13246886	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17721991	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778396	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1917047	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1978201	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2040913	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2237611	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237615	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237616	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237618	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237619	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237620	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2286124	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299312	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299313	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299314	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299316	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2299320	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2299325	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299326	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385542	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385556	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28461911	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28823350	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34003298	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34154773	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34717863	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34789097	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35442357	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35973577	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35993922	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735372	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779208	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3779209	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3801283	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4610671	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4727622	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4730078	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55796396	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60446665	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62488069	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6971241	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs717352	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs725506	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73186027	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73188303	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73188305	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73188321	0.80[ASN][1000 genomes]
rs7808168	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8180735	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8180737	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9641343	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9641347	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9641348	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv888928	chr7:104897964-104944847	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv2753646	chr7:104905588-104972800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv1803707	chr7:104928335-104948317	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104910800-104946000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:104912200-104939200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:104917200-104944600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:104919800-104939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:104920400-104939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:104920600-104959600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:104923200-104944200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:104924800-104939200	Weak transcription	Left Ventricle	heart
9	chr7:104925000-104944200	Weak transcription	A549	lung
10	chr7:104926400-104944600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:104929000-104939200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:104929400-104944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:104929800-104944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:104934600-104939200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:104934600-104939200	Weak transcription	Brain Substantia Nigra	brain
16	chr7:104934800-104939200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:104934800-104939200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:104934800-104944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:104935000-104939200	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:104935000-104939400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:104935000-104942200	Weak transcription	Brain Anterior Caudate	brain
22	chr7:104935000-104944200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:104935200-104942400	Weak transcription	Brain Angular Gyrus	brain
24	chr7:104936000-104942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:104936600-104940400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:104937400-104939200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:104937600-104939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:104937600-104939400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:104937600-104941800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:104937800-104939200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:104937800-104944000	Weak transcription	HepG2	liver
32	chr7:104938000-104939200	Weak transcription	Ovary	ovary
33	chr7:104938200-104939200	Weak transcription	K562	blood
34	chr7:104938200-104941000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:104938400-104940000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr7:104938400-104940800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:104938400-104941000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr7:104938400-104942400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr7:104938600-104939200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr7:104938600-104939400	Enhancers	Duodenum Mucosa	Duodenum
41	chr7:104938600-104939400	Flanking Active TSS	GM12878-XiMat	blood
42	chr7:104938600-104939600	Enhancers	Primary T cells from cord blood	blood
43	chr7:104938600-104940200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:104938600-104940200	Flanking Active TSS	Dnd41	blood
45	chr7:104938600-104940400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:104938600-104941200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr7:104938800-104939200	Enhancers	Stomach Mucosa	stomach
48	chr7:104938800-104939800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr7:104938800-104942600	Enhancers	Fetal Thymus	thymus
50	chr7:104939000-104939400	Enhancers	Psoas Muscle	Psoas

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