Variant report

Variant	rs73334154
Chromosome Location	chr14:45410257-45410258
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10083439	0.87[EUR][1000 genomes]
rs10129173	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10131066	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10131615	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10132389	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10132547	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10132949	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10134071	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10134598	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10135085	0.85[AMR][1000 genomes]
rs10135890	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10136008	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10136855	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10136926	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10137510	0.85[AFR][1000 genomes]
rs10138272	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10139998	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10140013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140049	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10140108	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140222	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10140318	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10145092	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10145267	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10146395	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10147499	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149484	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10150646	0.87[EUR][1000 genomes]
rs10152101	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1053667	0.92[EUR][1000 genomes]
rs11157423	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11157424	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11844832	0.86[EUR][1000 genomes]
rs11845088	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11845904	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11845956	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11846656	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11847039	0.87[EUR][1000 genomes]
rs11848334	0.98[EUR][1000 genomes]
rs11848799	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849208	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11849583	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11850363	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11851218	0.87[EUR][1000 genomes]
rs11851357	0.87[EUR][1000 genomes]
rs11851516	0.87[EUR][1000 genomes]
rs11851962	0.98[EUR][1000 genomes]
rs11852210	0.98[EUR][1000 genomes]
rs12100842	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1593279	0.87[EUR][1000 genomes]
rs17115639	0.87[EUR][1000 genomes]
rs17115646	0.87[EUR][1000 genomes]
rs17115648	0.87[EUR][1000 genomes]
rs17115652	0.87[EUR][1000 genomes]
rs17115677	0.87[EUR][1000 genomes]
rs17115688	0.98[EUR][1000 genomes]
rs17115703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115718	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17115787	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2295157	0.87[EUR][1000 genomes]
rs28432035	0.87[EUR][1000 genomes]
rs28448551	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28517769	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28558522	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572336	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28594810	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28622413	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28681969	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28695721	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28703636	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28756151	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2899960	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3736747	0.85[EUR][1000 genomes]
rs3825629	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4141578	0.95[ASN][1000 genomes]
rs56386358	0.84[EUR][1000 genomes]
rs56706956	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56836063	0.86[EUR][1000 genomes]
rs57129780	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57147026	0.82[EUR][1000 genomes]
rs57614513	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57694277	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58013518	0.98[EUR][1000 genomes]
rs58338525	0.87[EUR][1000 genomes]
rs58920861	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59992752	0.87[EUR][1000 genomes]
rs60521816	0.87[EUR][1000 genomes]
rs60595870	0.85[EUR][1000 genomes]
rs60891427	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61707578	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6572290	0.98[EUR][1000 genomes]
rs66488071	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66535982	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66662385	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67643245	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7140739	0.87[EUR][1000 genomes]
rs7145831	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7145870	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7146566	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7147644	0.95[ASN][1000 genomes]
rs7147811	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7151557	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7153451	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7158846	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621070	0.95[ASN][1000 genomes]
rs73334104	0.98[EUR][1000 genomes]
rs73334112	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73334114	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73334131	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73334135	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73334148	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73334157	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73334162	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73334165	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73334172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73334176	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73334913	0.94[EUR][1000 genomes]
rs73346336	0.96[EUR][1000 genomes]
rs73346344	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73346351	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73346360	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73348060	0.94[ASN][1000 genomes]
rs73348062	0.91[ASN][1000 genomes]
rs73348065	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73348069	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73348075	0.95[ASN][1000 genomes]
rs73348076	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73348079	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73348088	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73348095	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73348285	0.95[ASN][1000 genomes]
rs73348939	0.87[EUR][1000 genomes]
rs73348947	0.87[EUR][1000 genomes]
rs73348950	0.87[EUR][1000 genomes]
rs73348953	0.87[EUR][1000 genomes]
rs73348959	0.87[EUR][1000 genomes]
rs73348966	0.94[EUR][1000 genomes]
rs73348975	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73348977	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73348981	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73348987	0.98[EUR][1000 genomes]
rs73349820	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73350007	0.89[ASN][1000 genomes]
rs73350201	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73352233	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73352238	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73352246	0.95[ASN][1000 genomes]
rs73353644	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73353647	0.81[ASN][1000 genomes]
rs73353650	0.81[ASN][1000 genomes]
rs73353657	0.87[EUR][1000 genomes]
rs7493246	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7493823	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8006685	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8015453	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8018380	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8022008	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022608	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323106	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73334154	RP11-398E10.1	cis	Nerve Tibial	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45391200-45411000	Weak transcription	HSMM	muscle
2	chr14:45391200-45413000	Weak transcription	HUVEC	blood vessel
3	chr14:45394200-45413800	Weak transcription	HepG2	liver
4	chr14:45395200-45412400	Weak transcription	Brain Anterior Caudate	brain
5	chr14:45395200-45413800	Weak transcription	Fetal Brain Male	brain
6	chr14:45395400-45414400	Weak transcription	NH-A	brain
7	chr14:45395600-45416200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:45396200-45428400	Weak transcription	HMEC	breast
9	chr14:45396600-45414200	Weak transcription	Ovary	ovary
10	chr14:45396600-45416400	Weak transcription	Psoas Muscle	Psoas
11	chr14:45396800-45413000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:45396800-45414200	Weak transcription	Fetal Heart	heart
13	chr14:45397000-45414200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:45397000-45417000	Weak transcription	Stomach Mucosa	stomach
15	chr14:45397800-45414200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:45398400-45414400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:45401000-45414200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:45401400-45411200	Weak transcription	NHDF-Ad	bronchial
19	chr14:45401800-45411200	Weak transcription	Brain Substantia Nigra	brain
20	chr14:45402000-45430000	Weak transcription	Colonic Mucosa	Colon
21	chr14:45402400-45414400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:45403200-45410600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr14:45403200-45415400	Strong transcription	Dnd41	blood
24	chr14:45403400-45410400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr14:45405000-45414200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:45405200-45414200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:45405400-45416800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:45405600-45410400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr14:45405600-45411400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:45405600-45415200	Strong transcription	Fetal Lung	lung
31	chr14:45405600-45417200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:45405800-45410600	Strong transcription	Fetal Intestine Large	intestine
33	chr14:45405800-45412000	Strong transcription	Liver	Liver
34	chr14:45405800-45416600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:45406000-45410600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr14:45406600-45410400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:45406600-45410600	Strong transcription	Primary B cells from cord blood	blood
38	chr14:45406600-45414200	Weak transcription	NHEK	skin
39	chr14:45406800-45410400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:45406800-45410400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:45406800-45410600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:45406800-45410600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr14:45406800-45410600	Strong transcription	A549	lung
44	chr14:45406800-45410800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:45406800-45410800	Strong transcription	Fetal Stomach	stomach
46	chr14:45406800-45411200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:45407200-45413800	Weak transcription	NHLF	lung
48	chr14:45407200-45414200	Weak transcription	HSMMtube	muscle
49	chr14:45407400-45413200	Weak transcription	Hela-S3	cervix
50	chr14:45407400-45413600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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