Variant report

Variant	rs11983822
Chromosome Location	chr7:13101058-13101059
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13100363..13102009-chr7:13102221..13104284,2	K562	blood:
2	chr7:13099163..13101911-chr7:13106498..13108964,2	K562	blood:
3	chr7:12776917..12778957-chr7:13100732..13103715,2	MCF-7	breast:
4	chr7:13093779..13096148-chr7:13099334..13101239,2	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs10429149	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10488243	0.88[CEU][hapmap];0.86[CHB][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10488246	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10950428	0.80[AMR][1000 genomes]
rs10950431	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10950432	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10950433	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10950434	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10950437	0.81[ASN][1000 genomes]
rs10950438	0.81[ASN][1000 genomes]
rs10950439	0.81[ASN][1000 genomes]
rs10950440	0.81[ASN][1000 genomes]
rs11975327	0.93[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11983268	0.81[ASN][1000 genomes]
rs12056050	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12056168	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12056220	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12112570	0.81[ASN][1000 genomes]
rs12112648	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12113090	0.93[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12530565	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12530643	0.81[AMR][1000 genomes]
rs12530651	0.81[AMR][1000 genomes]
rs12531362	0.93[CEU][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12531363	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12532331	0.82[ASN][1000 genomes]
rs12533128	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12534513	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12534546	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12536140	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12536193	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12537114	0.81[ASN][1000 genomes]
rs12537378	0.91[EUR][1000 genomes]
rs12537712	0.80[AMR][1000 genomes]
rs12539699	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12540259	0.81[ASN][1000 genomes]
rs12669843	0.82[ASN][1000 genomes]
rs12671645	0.82[ASN][1000 genomes]
rs12672647	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12674018	0.81[ASN][1000 genomes]
rs16877655	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17166605	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17166608	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17166610	0.82[AMR][1000 genomes]
rs17166612	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17166626	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17166643	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17166651	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17166653	0.87[CEU][hapmap];0.88[GIH][hapmap];0.80[TSI][hapmap];0.86[EUR][1000 genomes]
rs17166655	0.88[CEU][hapmap];0.88[GIH][hapmap];0.82[EUR][1000 genomes]
rs17166658	1.00[CEU][hapmap];0.88[GIH][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs17166671	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17166673	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17166674	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17166683	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17166689	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17166711	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17166712	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17166738	0.84[ASN][1000 genomes]
rs17166756	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1861237	0.84[EUR][1000 genomes]
rs1981639	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2005878	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2006291	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2058152	0.82[ASN][1000 genomes]
rs2058153	0.82[ASN][1000 genomes]
rs2058154	0.82[ASN][1000 genomes]
rs2110650	0.82[AMR][1000 genomes]
rs2160193	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2191043	0.93[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs2215221	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2215222	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2357197	0.81[ASN][1000 genomes]
rs2357198	0.81[ASN][1000 genomes]
rs28639785	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2884118	0.81[ASN][1000 genomes]
rs34125302	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34404228	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34932308	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35023832	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35432593	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4236278	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4636097	0.80[EUR][1000 genomes]
rs4719347	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4721177	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55957561	0.84[AMR][1000 genomes]
rs57459966	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59239360	0.81[ASN][1000 genomes]
rs59601961	0.81[ASN][1000 genomes]
rs59675898	0.85[AMR][1000 genomes]
rs60007632	0.81[ASN][1000 genomes]
rs60345281	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60705466	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61232028	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61403192	0.81[ASN][1000 genomes]
rs61639094	0.85[AMR][1000 genomes]
rs61652670	0.82[ASN][1000 genomes]
rs6460997	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460999	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6461000	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6461006	0.82[ASN][1000 genomes]
rs6461007	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6942805	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6943435	0.81[ASN][1000 genomes]
rs6949649	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6949871	0.81[ASN][1000 genomes]
rs6949879	0.81[ASN][1000 genomes]
rs6950122	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6950438	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6950752	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6954638	0.82[ASN][1000 genomes]
rs6956549	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6962417	0.81[ASN][1000 genomes]
rs6963167	0.81[EUR][1000 genomes]
rs6964875	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6969380	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6969769	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6971600	0.82[ASN][1000 genomes]
rs6974627	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6977552	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73255876	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73257863	0.82[ASN][1000 genomes]
rs73257875	0.82[ASN][1000 genomes]
rs73257883	0.82[ASN][1000 genomes]
rs73259893	0.81[ASN][1000 genomes]
rs73259902	0.81[ASN][1000 genomes]
rs73259988	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73259991	0.82[AMR][1000 genomes]
rs73261810	0.81[ASN][1000 genomes]
rs73261882	0.81[ASN][1000 genomes]
rs73261884	0.81[ASN][1000 genomes]
rs73261897	0.81[ASN][1000 genomes]
rs73261908	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73261911	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73261913	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73261923	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73261936	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73261949	0.83[EUR][1000 genomes]
rs73261954	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73261964	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73261983	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs736198	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs738052	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs763534	0.82[AMR][1000 genomes]
rs7777806	0.82[ASN][1000 genomes]
rs7777911	0.82[AMR][1000 genomes]
rs7777981	0.81[ASN][1000 genomes]
rs7777989	0.81[ASN][1000 genomes]
rs7778130	0.82[ASN][1000 genomes]
rs7778632	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7778887	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7781945	0.81[ASN][1000 genomes]
rs7782554	0.81[ASN][1000 genomes]
rs7783033	0.82[ASN][1000 genomes]
rs7783710	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7784807	0.82[ASN][1000 genomes]
rs7784901	0.82[ASN][1000 genomes]
rs7786577	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7787776	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7787998	0.80[AMR][1000 genomes]
rs7788257	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7788484	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7788862	0.82[ASN][1000 genomes]
rs7789174	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7789528	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7789970	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7790328	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7790665	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7790770	0.92[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7790911	0.81[ASN][1000 genomes]
rs7793289	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7793405	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7793573	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7797104	0.82[AMR][1000 genomes]
rs7799356	0.93[CEU][hapmap];0.82[ASN][1000 genomes]
rs7799376	0.82[ASN][1000 genomes]
rs7799629	0.82[ASN][1000 genomes]
rs7802485	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7802872	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7803001	0.81[ASN][1000 genomes]
rs7805331	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7808618	0.86[EUR][1000 genomes]
rs9639142	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1019173	chr7:13063854-13585360	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538737	chr7:13063854-13585360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv887643	chr7:13086613-13211263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1027572	chr7:13093204-13130069	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029105	chr7:13093939-13123408	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1026055	chr7:13093939-13130069	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1016921	chr7:13093939-13130645	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1026551	chr7:13093939-13130746	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv437536	chr7:13100035-13152162	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11983822	ARL4A	cis	parietal	SCAN
rs11983822	TSPAN13	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13090200-13102600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:13095000-13103800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:13100400-13104000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:13100600-13101400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:13101000-13101600	Enhancers	HUES48 Cell Line	embryonic stem cell

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