Variant report

Variant	rs2270421
Chromosome Location	chr14:77787088-77787089
allele	C/T
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	ESR1	chr14:77787065-77787872	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr14:77786625-77788016	K562	blood:	n/a	n/a
3	MAX	chr14:77786491-77788014	SK-N-SH	brain:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
4	POLR2A	chr14:77786605-77788038	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr14:77786511-77788562	Hela-S3	cervix:	n/a	n/a
6	HCFC1	chr14:77786637-77787937	K562	blood:	n/a	n/a
7	YY1	chr14:77787055-77787470	HCT-116	colon:	n/a	chr14:77787147-77787161
8	RCOR1	chr14:77786527-77787926	Hela-S3	cervix:	n/a	n/a
9	ETS1	chr14:77786658-77787911	K562	blood:	n/a	chr14:77787300-77787313 chr14:77787299-77787312 chr14:77787605-77787616
10	POLR2A	chr14:77786559-77788023	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr14:77786499-77788042	MCF-7	breast:	n/a	n/a
12	POLR2A	chr14:77786623-77788254	GM18526	blood:	n/a	n/a
13	RFX5	chr14:77786579-77787659	HepG2	liver:	n/a	chr14:77786736-77786750 chr14:77786738-77786753 chr14:77786735-77786750 chr14:77786738-77786753 chr14:77786739-77786748 chr14:77786710-77786719 chr14:77786737-77786754 chr14:77786738-77786753
14	MAX	chr14:77786602-77787871	GM12878	blood:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
15	SP1	chr14:77787070-77787650	H1-hESC	embryonic stem cell:	n/a	chr14:77787580-77787592 chr14:77787481-77787495 chr14:77787484-77787495 chr14:77787581-77787591 chr14:77787581-77787591 chr14:77787328-77787338 chr14:77787582-77787591 chr14:77787580-77787592 chr14:77787540-77787553 chr14:77787581-77787590 chr14:77787577-77787591 chr14:77787582-77787591
16	GTF2F1	chr14:77787003-77787500	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr14:77787060-77787210	GM12867	blood:	n/a	n/a
18	POLR2A	chr14:77786461-77788955	GM12891	blood:	n/a	n/a
19	MAX	chr14:77786537-77788021	ECC-1	luminal epithelium:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
20	ELF1	chr14:77787044-77787838	HepG2	liver:	n/a	chr14:77787147-77787159
21	ETS1	chr14:77787024-77787423	K562	blood:	n/a	chr14:77787300-77787313 chr14:77787299-77787312
22	SP1	chr14:77786419-77788004	A549	lung:	n/a	chr14:77787580-77787592 chr14:77787816-77787828 chr14:77787481-77787495 chr14:77786670-77786681 chr14:77786686-77786697 chr14:77787484-77787495 chr14:77787581-77787591 chr14:77787581-77787591 chr14:77786687-77786701 chr14:77786686-77786698 chr14:77787328-77787338 chr14:77787582-77787591 chr14:77787580-77787592 chr14:77787540-77787553 chr14:77787581-77787590 chr14:77787577-77787591 chr14:77786688-77786697 chr14:77786686-77786698 chr14:77786708-77786729 chr14:77787582-77787591
23	SIN3AK20	chr14:77786552-77787920	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr14:77787011-77787402	K562	blood:	n/a	n/a
25	ETS1	chr14:77787057-77787870	GM12878	blood:	n/a	chr14:77787300-77787313 chr14:77787299-77787312 chr14:77787605-77787616
26	SP4	chr14:77786962-77787768	H1-hESC	embryonic stem cell:	n/a	chr14:77787484-77787495 chr14:77787576-77787592 chr14:77787578-77787594
27	E2F4	chr14:77786569-77787820	K562	blood:	n/a	chr14:77786709-77786718 chr14:77787666-77787675 chr14:77787334-77787345 chr14:77787075-77787085 chr14:77787581-77787590 chr14:77787333-77787345
28	CTCFL	chr14:77787037-77787344	K562	blood:	n/a	n/a
29	POLR2A	chr14:77786595-77787995	U87	brain:	n/a	n/a
30	IRF1	chr14:77786525-77787932	K562	blood:	n/a	chr14:77786684-77786698 chr14:77787580-77787594 chr14:77787327-77787341
31	ELF1	chr14:77786547-77787895	GM12878	blood:	n/a	chr14:77787147-77787159
32	TAF1	chr14:77787028-77787613	K562	blood:	n/a	n/a
33	ZBTB7A	chr14:77786444-77788000	ECC-1	luminal epithelium:	n/a	n/a
34	GABPA	chr14:77787010-77787889	K562	blood:	n/a	chr14:77787662-77787676 chr14:77787665-77787679 chr14:77787665-77787676 chr14:77787581-77787590
35	MAX	chr14:77786681-77787814	A549	lung:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
36	RAD21	chr14:77787086-77787325	K562	blood:	n/a	chr14:77787093-77787112 chr14:77787096-77787109 chr14:77787097-77787106
37	TAF1	chr14:77787061-77787665	GM12878	blood:	n/a	n/a
38	MYC	chr14:77786285-77787855	A549	lung:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
39	CHD2	chr14:77786698-77787963	K562	blood:	n/a	n/a
40	POLR2A	chr14:77786593-77787955	K562	blood:	n/a	n/a
41	YY1	chr14:77786594-77787977	HepG2	liver:	n/a	chr14:77787581-77787590 chr14:77787147-77787161
42	POLR2A	chr14:77786461-77788495	K562	blood:	n/a	n/a
43	TAF1	chr14:77786401-77788031	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr14:77786644-77787985	HCT-116	colon:	n/a	n/a
45	POLR2A	chr14:77786441-77787980	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr14:77786574-77787953	A549	lung:	n/a	n/a
47	CTCF	chr14:77787080-77787230	AG09319	gingival:	n/a	n/a
48	POLR2A	chr14:77786677-77788032	IMR90	lung:	n/a	n/a
49	CTCF	chr14:77787025-77787321	GM12892	blood:	n/a	n/a
50	POLR2A	chr14:77786636-77788016	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:77787055-77787105	BJ	skin:	n/a
2	chr14:77787055-77787105	IMR90	lung:	fetal
3	chr14:77787043-77787093	ProgFib	skin:	n/a
4	chr14:77787055-77787105	GM12878	blood:	n/a
5	chr14:77787055-77787105	Hepatocyte	liver:	n/a
6	chr14:77787055-77787105	RPTEC	kidney:	n/a
7	chr14:77787055-77787105	ovcar-3	ovarian:	n/a
8	chr14:77787043-77787093	ovcar-3	ovarian:	n/a
9	chr14:77787055-77787105	Caco-2	colon:	n/a
10	chr14:77787043-77787093	GM12892	blood:	n/a
11	chr14:77787043-77787093	SK-N-SH_RA	brain:	n/a
12	chr14:77787043-77787093	GM12891	blood:	n/a
13	chr14:77787043-77787093	SK-N-SH	brain:	n/a
14	chr14:77787055-77787105	NHBE	bronchial:	n/a
15	chr14:77787055-77787105	GM06990	blood:	n/a
16	chr14:77787055-77787105	HCM	heart:	n/a
17	chr14:77787043-77787093	AG04449	skin:	fetal
18	chr14:77787055-77787105	GM19239	blood:	n/a
19	chr14:77787055-77787105	SK-N-MC	brain:	n/a
20	chr14:77787055-77787105	PFSK-1	brain:	n/a
21	chr14:77787055-77787105	U87	brain:	n/a
22	chr14:77787043-77787093	NT2-D1	testis:	n/a
23	chr14:77787055-77787105	NHDF-neo	bronchial:	n/a
24	chr14:77787055-77787105	HRPEpiC	eye:	n/a
25	chr14:77787043-77787093	HRPEpiC	eye:	n/a
26	chr14:77787043-77787093	PrEC	prostate:	n/a
27	chr14:77787055-77787105	SK-N-SH	brain:	n/a
28	chr14:77787043-77787093	HCT-116	colon:	n/a
29	chr14:77787043-77787093	AG10803	skin:	n/a
30	chr14:77787043-77787093	HNPCEpiC	eye:	n/a
31	chr14:77787043-77787093	MCF-7	breast:	n/a
32	chr14:77787055-77787105	PANC-1	pancreas:	n/a
33	chr14:77787055-77787105	HCT-116	colon:	n/a
34	chr14:77787055-77787105	NH-A	brain:	n/a
35	chr14:77787043-77787093	GM19239	blood:	n/a
36	chr14:77787043-77787093	NHDF-neo	bronchial:	n/a
37	chr14:77787043-77787093	HMEC	breast:	n/a
38	chr14:77787055-77787105	Jurkat	blood:	n/a
39	chr14:77787055-77787105	AG10803	skin:	n/a
40	chr14:77787055-77787105	MCF10A-Er-Src	breast:	n/a
41	chr14:77787043-77787093	CMK	blood:	n/a
42	chr14:77787043-77787093	LNCaP	prostate:	n/a
43	chr14:77787043-77787093	PANC-1	pancreas:	n/a
44	chr14:77787055-77787105	K562	blood:	n/a
45	chr14:77787055-77787105	HCPEpiC	choroid plexus:	n/a
46	chr14:77787043-77787093	BJ	skin:	n/a
47	chr14:77787043-77787093	Jurkat	blood:	n/a
48	chr14:77787043-77787093	HepG2	liver:	n/a
49	chr14:77787043-77787093	HRE	kidney:	n/a
50	chr14:77787055-77787105	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77647339..77650955-chr14:77785389..77788358,5	MCF-7	breast:
2	chr14:77782973..77788435-chr14:78081530..78084931,5	MCF-7	breast:
3	chr14:77563716..77565986-chr14:77785813..77787789,2	MCF-7	breast:
4	chr14:77785598..77789538-chr14:77924091..77927637,5	MCF-7	breast:
5	chr14:77748044..77750512-chr14:77785605..77787632,2	MCF-7	breast:
6	chr14:77751328..77755884-chr14:77785355..77788655,4	MCF-7	breast:
7	chr14:77605681..77608147-chr14:77785721..77788952,4	MCF-7	breast:
8	chr14:77786606..77788826-chr14:78082183..78084255,2	K562	blood:
9	chr14:77785518..77787393-chr14:77882110..77884811,2	K562	blood:
10	chr14:77646577..77649681-chr14:77786771..77790034,4	MCF-7	breast:
11	chr11:47429863..47430413-chr14:77786891..77787619,2	HCT-116	colon:
12	chr14:77765577..77770355-chr14:77785292..77788769,6	K562	blood:
13	chr14:77767197..77768126-chr14:77786720..77787641,3	MCF-7	breast:
14	chr14:77786062..77789367-chr14:77922502..77925939,5	K562	blood:
15	chr14:77559718..77567556-chr14:77781210..77790475,16	MCF-7	breast:
16	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:
17	chr14:77604510..77610221-chr14:77785583..77789070,6	MCF-7	breast:
18	chr14:77561613..77565836-chr14:77785735..77788648,4	K562	blood:
19	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
20	chr14:77786728..77789222-chr14:77922439..77925921,5	MCF-7	breast:
21	chr11:206146..209118-chr14:77786233..77788296,2	MCF-7	breast:
22	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:

Variant related genes	Relation type
POMT2	TF binding region
GSTZ1	TF binding region
GSTZ1	CpG island
POMT2	CpG island
ENSG00000177963	Chromatin interaction
ENSG00000268156	Chromatin interaction
ENSG00000165555	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000177108	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000177951	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000269883	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11624564	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11624859	0.94[ASN][1000 genomes]
rs11626281	0.92[ASN][1000 genomes]
rs11627257	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12431465	0.84[ASN][1000 genomes]
rs17105672	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2042045	0.95[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2111699	0.91[CHB][hapmap];0.90[CHD][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2193594	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216089	0.81[CHB][hapmap]
rs2270423	0.82[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287387	0.91[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2287395	0.85[CHB][hapmap];0.81[CHD][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2363641	0.95[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363642	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363643	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2885854	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759733	0.90[CHD][hapmap]
rs3783986	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs3815626	0.95[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4147578	0.88[CHB][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4147579	0.83[EUR][1000 genomes]
rs4899650	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs4903567	0.91[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4903568	0.83[ASN][1000 genomes]
rs4903569	0.85[ASN][1000 genomes]
rs59630055	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990299	0.94[ASN][1000 genomes]
rs6574367	0.95[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574368	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67873774	0.94[ASN][1000 genomes]
rs7142812	0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs7158951	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7159558	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs7160188	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160195	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8007615	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8008449	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009261	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs8009733	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs8016187	0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2270421	GSTZ1	cis	Esophagus Mucosa	GTEx
rs2270421	GSTZ1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77785600-77789000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:77785800-77788400	Active TSS	A549	lung
3	chr14:77786000-77788400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:77786200-77788400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:77786200-77788400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:77786200-77788400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr14:77786200-77788400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:77786200-77788400	Active TSS	NHDF-Ad	bronchial
9	chr14:77786200-77788600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:77786400-77787200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr14:77786400-77788000	Active TSS	Gastric	stomach
12	chr14:77786400-77788200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:77786400-77788200	Active TSS	Primary T cells from cord blood	blood
14	chr14:77786400-77788200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr14:77786400-77788200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:77786400-77788200	Active TSS	HMEC	breast
17	chr14:77786400-77788400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:77786400-77788400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:77786400-77788400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:77786400-77788400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:77786400-77788400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr14:77786400-77788400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:77786400-77788400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:77786400-77788400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:77786400-77788400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:77786400-77788400	Active TSS	Brain Hippocampus Middle	brain
27	chr14:77786400-77788400	Active TSS	Fetal Brain Female	brain
28	chr14:77786400-77788400	Active TSS	Fetal Kidney	kidney
29	chr14:77786400-77788400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr14:77786400-77788400	Active TSS	Lung	lung
31	chr14:77786400-77788600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr14:77786400-77788600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr14:77786400-77788600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:77786400-77788600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:77786400-77788600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:77786400-77788600	Active TSS	Aorta	Aorta
37	chr14:77786400-77788600	Active TSS	Esophagus	oesophagus
38	chr14:77786400-77788600	Active TSS	Fetal Muscle Trunk	muscle
39	chr14:77786400-77788600	Active TSS	Left Ventricle	heart
40	chr14:77786400-77788600	Active TSS	Ovary	ovary
41	chr14:77786400-77788600	Active TSS	Psoas Muscle	Psoas
42	chr14:77786400-77788600	Active TSS	Right Atrium	heart
43	chr14:77786400-77789000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr14:77786600-77788000	Active TSS	Spleen	Spleen
45	chr14:77786600-77788200	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr14:77786600-77788200	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr14:77786600-77788200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:77786600-77788200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr14:77786600-77788200	Active TSS	Fetal Muscle Leg	muscle
50	chr14:77786600-77788200	Active TSS	Placenta	Placenta

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