Variant report

Variant	rs6889995
Chromosome Location	chr5:108210304-108210305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:108210158..108213191-chr5:108222074..108225118,3	K562	blood:

Extended variants
information (count: 162 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs10035944	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10036583	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10037675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10039951	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10040085	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041657	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041659	0.89[EUR][1000 genomes]
rs10042152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050490	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050547	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10052208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052531	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053476	0.87[ASN][1000 genomes]
rs10054086	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10058035	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061362	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062211	0.89[EUR][1000 genomes]
rs10064960	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10067117	0.86[EUR][1000 genomes]
rs10070327	0.91[EUR][1000 genomes]
rs10073473	0.87[ASN][1000 genomes]
rs10075620	0.83[EUR][1000 genomes]
rs10077177	0.87[ASN][1000 genomes]
rs10077917	0.87[ASN][1000 genomes]
rs10078143	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477428	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10477429	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10477430	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10477432	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10477931	0.80[ASN][1000 genomes]
rs10477932	0.86[EUR][1000 genomes]
rs10477933	0.87[EUR][1000 genomes]
rs10477934	0.91[EUR][1000 genomes]
rs10477935	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11958426	1.00[ASN][1000 genomes]
rs12719099	0.87[ASN][1000 genomes]
rs13354622	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13355571	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13358881	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359423	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360253	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13360598	0.87[ASN][1000 genomes]
rs13361128	0.87[ASN][1000 genomes]
rs1396444	0.89[EUR][1000 genomes]
rs1423459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161505	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17161540	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961616	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2009646	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2081127	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2081128	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2113001	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2229085	0.87[ASN][1000 genomes]
rs28396658	0.87[ASN][1000 genomes]
rs28415902	0.87[ASN][1000 genomes]
rs28460265	0.87[ASN][1000 genomes]
rs28521452	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536717	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28611371	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28612304	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28631256	0.87[ASN][1000 genomes]
rs28633642	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28651469	0.93[ASN][1000 genomes]
rs28765243	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28862652	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2900036	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2900037	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35141056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35464106	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3805598	0.89[EUR][1000 genomes]
rs3805599	0.89[EUR][1000 genomes]
rs41508849	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4358573	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4361568	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4448048	0.89[EUR][1000 genomes]
rs4479887	0.88[EUR][1000 genomes]
rs4537096	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4560594	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560595	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5019041	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56985651	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57561676	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57703314	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57719993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57885979	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57908514	0.87[EUR][1000 genomes]
rs57928004	0.89[EUR][1000 genomes]
rs58193244	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58304901	0.87[EUR][1000 genomes]
rs58530168	0.87[EUR][1000 genomes]
rs59229445	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59297048	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59821709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60126805	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60618804	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61170909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360774	1.00[ASN][1000 genomes]
rs62360777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360778	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360790	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360793	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360824	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360827	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361335	0.87[EUR][1000 genomes]
rs62361336	0.87[EUR][1000 genomes]
rs62361337	0.87[EUR][1000 genomes]
rs62361338	0.86[EUR][1000 genomes]
rs62361341	0.90[EUR][1000 genomes]
rs62361342	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62361343	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62361344	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62361345	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62363276	0.87[ASN][1000 genomes]
rs62363277	0.87[ASN][1000 genomes]
rs62363280	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62363281	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62363283	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62363284	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62363285	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62363287	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62363289	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62363290	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594341	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594342	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863046	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872127	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6873130	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6873917	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6874497	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6874773	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6874968	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6875158	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6876542	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6876606	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6881932	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888173	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6890301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890309	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894386	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6897096	0.87[ASN][1000 genomes]
rs6897329	0.87[ASN][1000 genomes]
rs6897572	0.87[ASN][1000 genomes]
rs7709144	0.93[ASN][1000 genomes]
rs7715658	0.89[EUR][1000 genomes]
rs7716358	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719821	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724385	0.91[EUR][1000 genomes]
rs7728920	0.89[EUR][1000 genomes]
rs889269	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9326749	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9326750	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326752	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885265	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9885428	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv471039	chr5:108133967-108245089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108166600-108217000	Weak transcription	Left Ventricle	heart
2	chr5:108167200-108220400	Weak transcription	Fetal Lung	lung
3	chr5:108169400-108229200	Weak transcription	Fetal Stomach	stomach
4	chr5:108173400-108239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:108182000-108217000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:108183800-108260400	Weak transcription	Ovary	ovary
7	chr5:108187200-108211800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:108194000-108217000	Weak transcription	Esophagus	oesophagus
9	chr5:108194600-108260000	Weak transcription	Fetal Intestine Large	intestine
10	chr5:108194800-108236200	Weak transcription	Hela-S3	cervix
11	chr5:108195000-108211800	Weak transcription	NHDF-Ad	bronchial
12	chr5:108195200-108211000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:108195200-108231600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:108195200-108231600	Weak transcription	Psoas Muscle	Psoas
15	chr5:108195200-108234400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:108196800-108230000	Weak transcription	Lung	lung
17	chr5:108197000-108268200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:108197400-108219800	Weak transcription	Placenta	Placenta
19	chr5:108198600-108229800	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:108198600-108235000	Weak transcription	Fetal Kidney	kidney
21	chr5:108198800-108217000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:108199200-108271400	Weak transcription	Aorta	Aorta
23	chr5:108200200-108232600	Weak transcription	Brain Angular Gyrus	brain
24	chr5:108200200-108246400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:108200400-108211400	Weak transcription	Right Ventricle	heart
26	chr5:108202000-108229200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:108202200-108217200	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:108202400-108212200	Weak transcription	Brain Germinal Matrix	brain
29	chr5:108203000-108212200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:108203600-108220400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
32	chr5:108204400-108216800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:108204400-108237800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:108204600-108217000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:108204800-108219400	Weak transcription	HSMMtube	muscle
36	chr5:108205000-108211400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:108205000-108219800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:108205200-108214400	Weak transcription	GM12878-XiMat	blood
39	chr5:108205200-108220200	Weak transcription	NH-A	brain
40	chr5:108205400-108230200	Weak transcription	Adipose Nuclei	Adipose
41	chr5:108205400-108241400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:108208000-108218800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:108208200-108268800	Weak transcription	Primary T cells from cord blood	blood
44	chr5:108209200-108211600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:108209400-108230000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:108209600-108211400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:108209600-108212800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:108209600-108213600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:108209600-108220200	Weak transcription	Osteobl	bone
50	chr5:108209800-108211400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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