Variant report

Variant	rs61930640
Chromosome Location	chr12:86173333-86173334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86166924..86169171-chr12:86172853..86175025,2	K562	blood:
2	chr12:86166852..86169171-chr12:86172826..86175025,3	K562	blood:

Extended variants
information (count: 286 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:279)

rs_ID	r²[population]
rs10506918	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10506920	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10506921	0.93[ASN][1000 genomes]
rs10506922	0.86[ASN][1000 genomes]
rs10506923	0.86[ASN][1000 genomes]
rs10735486	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10746353	0.86[ASN][1000 genomes]
rs10779201	0.86[ASN][1000 genomes]
rs10779202	0.86[ASN][1000 genomes]
rs10779203	0.86[ASN][1000 genomes]
rs10779204	0.86[ASN][1000 genomes]
rs10779206	0.86[ASN][1000 genomes]
rs10779207	0.86[ASN][1000 genomes]
rs10779208	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10779210	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10779216	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10863069	0.86[ASN][1000 genomes]
rs10863070	0.86[ASN][1000 genomes]
rs10863071	0.86[ASN][1000 genomes]
rs10863073	0.86[ASN][1000 genomes]
rs10863075	0.86[ASN][1000 genomes]
rs10863076	0.86[ASN][1000 genomes]
rs10863077	0.86[ASN][1000 genomes]
rs10863078	0.86[ASN][1000 genomes]
rs10863079	0.86[ASN][1000 genomes]
rs10863080	0.86[ASN][1000 genomes]
rs10863083	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10863085	0.91[EUR][1000 genomes]
rs10863086	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11117016	0.86[ASN][1000 genomes]
rs11117017	0.86[ASN][1000 genomes]
rs11117019	0.83[ASN][1000 genomes]
rs11117020	0.86[ASN][1000 genomes]
rs11117021	0.86[ASN][1000 genomes]
rs11117023	0.86[ASN][1000 genomes]
rs11117042	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11117050	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11117051	0.82[ASN][1000 genomes]
rs11117052	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11117053	0.82[ASN][1000 genomes]
rs11117057	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11117065	0.84[EUR][1000 genomes]
rs11503595	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11608717	1.00[ASN][1000 genomes]
rs11608719	1.00[ASN][1000 genomes]
rs11609351	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11610120	1.00[ASN][1000 genomes]
rs11610371	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11610627	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610763	1.00[ASN][1000 genomes]
rs11610789	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610846	0.86[ASN][1000 genomes]
rs11611664	0.82[ASN][1000 genomes]
rs11611968	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612432	1.00[ASN][1000 genomes]
rs11612928	1.00[ASN][1000 genomes]
rs11612938	1.00[ASN][1000 genomes]
rs11613070	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613243	0.82[ASN][1000 genomes]
rs11614033	0.82[ASN][1000 genomes]
rs11614513	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614830	0.82[ASN][1000 genomes]
rs11614924	0.82[ASN][1000 genomes]
rs11615116	0.86[ASN][1000 genomes]
rs11830132	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11830880	0.93[ASN][1000 genomes]
rs11831336	0.87[ASN][1000 genomes]
rs11831936	0.93[ASN][1000 genomes]
rs11832503	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11832948	0.86[EUR][1000 genomes]
rs11832992	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11837152	0.82[ASN][1000 genomes]
rs12297441	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12300728	0.82[ASN][1000 genomes]
rs12305828	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12308839	0.82[ASN][1000 genomes]
rs12308898	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12309130	0.86[ASN][1000 genomes]
rs12309296	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12309878	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12313775	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12314274	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12314318	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12426417	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12829972	1.00[ASN][1000 genomes]
rs1349060	0.82[ASN][1000 genomes]
rs1349061	0.82[ASN][1000 genomes]
rs1349063	0.82[EUR][1000 genomes]
rs1448096	0.82[ASN][1000 genomes]
rs1448097	0.82[ASN][1000 genomes]
rs1448098	0.82[ASN][1000 genomes]
rs1584368	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1584369	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17279133	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17279205	0.93[ASN][1000 genomes]
rs17279240	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17279261	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17279289	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17279338	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17279464	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17279916	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17280216	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17280483	0.82[ASN][1000 genomes]
rs17280643	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17280790	0.82[ASN][1000 genomes]
rs17344633	0.86[ASN][1000 genomes]
rs17344834	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17345028	0.93[ASN][1000 genomes]
rs17345272	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17345299	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17345522	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17345975	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17346231	0.82[ASN][1000 genomes]
rs1900700	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1900701	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2061686	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197769	0.82[ASN][1000 genomes]
rs2199519	0.86[ASN][1000 genomes]
rs2199520	0.86[ASN][1000 genomes]
rs2219715	0.86[ASN][1000 genomes]
rs2405613	0.83[ASN][1000 genomes]
rs2405614	0.86[ASN][1000 genomes]
rs2405615	0.86[ASN][1000 genomes]
rs2405621	0.86[ASN][1000 genomes]
rs2405623	0.82[EUR][1000 genomes]
rs34555363	1.00[ASN][1000 genomes]
rs34656916	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34885805	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35034633	1.00[ASN][1000 genomes]
rs35648674	1.00[ASN][1000 genomes]
rs36046732	1.00[ASN][1000 genomes]
rs4131243	0.96[ASN][1000 genomes]
rs4274268	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4278581	0.86[ASN][1000 genomes]
rs4278582	0.86[ASN][1000 genomes]
rs4341613	0.86[ASN][1000 genomes]
rs4362214	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4393398	0.86[ASN][1000 genomes]
rs4436622	0.82[ASN][1000 genomes]
rs4462416	0.86[ASN][1000 genomes]
rs4488288	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4540904	0.86[EUR][1000 genomes]
rs4559760	0.86[ASN][1000 genomes]
rs4897818	0.86[ASN][1000 genomes]
rs4897823	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4897827	0.86[ASN][1000 genomes]
rs4897828	0.86[ASN][1000 genomes]
rs4897829	0.93[ASN][1000 genomes]
rs4897830	1.00[ASN][1000 genomes]
rs4897831	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897834	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897844	0.86[ASN][1000 genomes]
rs4919770	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4919771	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4919779	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56082822	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56135828	1.00[ASN][1000 genomes]
rs56291271	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56330110	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57278040	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57614821	0.91[EUR][1000 genomes]
rs58742237	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59445394	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59668915	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59858864	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60000164	0.96[ASN][1000 genomes]
rs60539006	1.00[ASN][1000 genomes]
rs60947649	1.00[ASN][1000 genomes]
rs60986162	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61928899	1.00[ASN][1000 genomes]
rs61928905	0.93[ASN][1000 genomes]
rs61928906	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61928907	0.93[ASN][1000 genomes]
rs61928910	0.87[ASN][1000 genomes]
rs61928911	0.87[ASN][1000 genomes]
rs61928912	0.87[ASN][1000 genomes]
rs61928914	0.87[ASN][1000 genomes]
rs61928916	0.87[ASN][1000 genomes]
rs61930029	0.93[ASN][1000 genomes]
rs61930035	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930036	0.93[ASN][1000 genomes]
rs61930037	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930064	0.82[ASN][1000 genomes]
rs61930066	0.82[ASN][1000 genomes]
rs61930067	0.82[ASN][1000 genomes]
rs61930068	0.82[ASN][1000 genomes]
rs61930074	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930076	0.82[ASN][1000 genomes]
rs61930078	0.82[ASN][1000 genomes]
rs61930132	0.82[ASN][1000 genomes]
rs61930137	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930139	0.82[ASN][1000 genomes]
rs61930140	0.82[ASN][1000 genomes]
rs61930575	0.86[ASN][1000 genomes]
rs61930577	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61930579	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930580	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930581	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930582	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930585	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930586	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930587	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930588	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930589	0.86[ASN][1000 genomes]
rs61930590	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930591	0.86[ASN][1000 genomes]
rs61930624	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930625	1.00[ASN][1000 genomes]
rs61930626	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930629	1.00[ASN][1000 genomes]
rs61930631	1.00[ASN][1000 genomes]
rs61930632	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930633	1.00[ASN][1000 genomes]
rs61930637	1.00[ASN][1000 genomes]
rs61930639	1.00[ASN][1000 genomes]
rs61930641	1.00[ASN][1000 genomes]
rs61930644	1.00[ASN][1000 genomes]
rs61930862	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930864	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930865	0.82[ASN][1000 genomes]
rs61930873	0.82[ASN][1000 genomes]
rs6539919	0.80[ASN][1000 genomes]
rs6539921	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6539923	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6539924	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6539925	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6539926	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6539927	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6539928	0.84[EUR][1000 genomes]
rs6539929	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6539931	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6539932	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6539933	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66656505	1.00[ASN][1000 genomes]
rs67914794	1.00[ASN][1000 genomes]
rs7133591	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7134732	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7136905	0.86[ASN][1000 genomes]
rs7137041	0.86[ASN][1000 genomes]
rs7137596	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7297996	0.91[EUR][1000 genomes]
rs7299285	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7302741	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7303330	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7304873	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307617	0.86[ASN][1000 genomes]
rs7307626	0.86[ASN][1000 genomes]
rs7308229	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7309500	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311532	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7314668	0.86[ASN][1000 genomes]
rs7316772	0.82[ASN][1000 genomes]
rs73174576	1.00[ASN][1000 genomes]
rs73176549	1.00[ASN][1000 genomes]
rs73176583	0.82[ASN][1000 genomes]
rs7397266	0.87[ASN][1000 genomes]
rs7399276	1.00[ASN][1000 genomes]
rs7399277	1.00[ASN][1000 genomes]
rs7953318	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7953353	0.82[ASN][1000 genomes]
rs7954472	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7957170	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7959372	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7960130	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7967183	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7968059	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7968248	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7970081	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7970732	0.82[ASN][1000 genomes]
rs7970842	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7974167	0.82[ASN][1000 genomes]
rs7976647	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7979156	1.00[ASN][1000 genomes]
rs974816	0.86[ASN][1000 genomes]
rs974817	0.86[ASN][1000 genomes]
rs974818	0.86[ASN][1000 genomes]
rs9788152	0.89[ASN][1000 genomes]
rs9788214	1.00[ASN][1000 genomes]
rs9788252	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1054475	chr12:85985510-86175711	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541561	chr12:85985510-86175711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86170200-86179200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:86171800-86177000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:86172400-86174600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:86172600-86173600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:86172600-86173800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:86172600-86173800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:86172600-86174000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:86172600-86174200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:86172600-86174600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:86172800-86173800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr12:86172800-86174000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:86173000-86173800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:86173000-86174600	Weak transcription	Fetal Lung	lung
14	chr12:86173000-86176400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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