Variant report

Variant	rs17593568
Chromosome Location	chr1:169734937-169734938
allele	A/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	POLR2A	chr1:169734570-169735278	K562	blood:	n/a	n/a
2	NR2F2	chr1:169734917-169735561	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:169734204..169737079-chr1:169739015..169740772,2	K562	blood:
2	chr1:169733934..169735704-chr1:169737869..169740772,2	K562	blood:
3	chr1:169720296..169723016-chr1:169734414..169737287,4	K562	blood:

Variant related genes	Relation type
SELE	TF binding region
ENSG00000230704	TF binding region

Extended variants
information (count: 207 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:206)

rs_ID	r²[population]
rs1046058	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10489173	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10489174	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10489176	0.83[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10919253	0.81[EUR][1000 genomes]
rs12116524	0.81[EUR][1000 genomes]
rs12116650	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12118431	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12118559	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12119368	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12119386	0.81[EUR][1000 genomes]
rs12119635	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12120114	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12120647	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120727	0.81[EUR][1000 genomes]
rs12121045	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12121113	0.87[ASN][1000 genomes]
rs12121313	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121443	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12121606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121614	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12121681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122419	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12122582	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12122776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123432	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12123483	0.81[EUR][1000 genomes]
rs12123942	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124032	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12124561	0.82[CEU][hapmap]
rs12124775	0.81[EUR][1000 genomes]
rs12125023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125595	0.82[CEU][hapmap]
rs12125679	0.82[CEU][hapmap]
rs12126591	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12127211	0.83[CEU][hapmap]
rs12127500	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12128308	0.82[CEU][hapmap]
rs12128695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128929	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12129443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130372	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12130784	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131192	0.82[CEU][hapmap]
rs12131357	1.00[CHB][hapmap]
rs12131444	0.81[EUR][1000 genomes]
rs12132222	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12132384	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12132633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132692	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133074	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12133642	0.82[AMR][1000 genomes]
rs12133666	0.82[AMR][1000 genomes]
rs12133892	0.82[AMR][1000 genomes]
rs12134837	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12134886	0.83[CEU][hapmap]
rs12135057	0.81[EUR][1000 genomes]
rs12135214	0.82[AMR][1000 genomes]
rs12135361	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12135559	0.81[EUR][1000 genomes]
rs12135642	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12135726	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12135973	0.82[AMR][1000 genomes]
rs12136425	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12137905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs12138861	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12140656	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12141317	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12141572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12142093	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12142511	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12142956	0.82[AMR][1000 genomes]
rs12142988	0.82[AMR][1000 genomes]
rs12143057	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12143161	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12143301	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12144204	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12144207	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12144683	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12145417	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12145458	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12145504	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145574	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1496	0.81[EUR][1000 genomes]
rs1569457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs16828222	0.82[CEU][hapmap]
rs16862751	0.82[CEU][hapmap]
rs17527744	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17529304	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17529791	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17543370	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17543611	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17543730	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17544586	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17544823	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17593862	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17601414	0.81[EUR][1000 genomes]
rs17601582	0.81[EUR][1000 genomes]
rs17601631	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17602051	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs17602072	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17602701	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17603570	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17603666	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs1800015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800016	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2272919	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2272920	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2272921	0.80[EUR][1000 genomes]
rs2750018	0.83[CEU][hapmap]
rs2750019	0.83[CEU][hapmap]
rs2806384	0.83[CEU][hapmap]
rs2806385	0.88[CEU][hapmap]
rs2806387	0.83[CEU][hapmap]
rs2806389	0.83[CEU][hapmap]
rs2806392	0.82[CEU][hapmap]
rs3766135	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3766141	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs3766143	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs3917388	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917396	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3917410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3917411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917424	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3917448	0.82[AMR][1000 genomes]
rs3917452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917453	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41272481	0.81[EUR][1000 genomes]
rs41304562	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4519	0.82[CEU][hapmap]
rs478116	0.90[CEU][hapmap]
rs486431	0.90[CEU][hapmap]
rs490469	0.83[CEU][hapmap]
rs495092	0.83[CEU][hapmap]
rs4987267	0.82[AMR][1000 genomes]
rs4987271	0.82[AMR][1000 genomes]
rs4987299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4987302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4987304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4987307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4987308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4987317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4987323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4987324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4987325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4987340	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs4987343	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs4987345	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs4987363	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs4987395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs517649	0.88[CEU][hapmap]
rs522017	0.81[CEU][hapmap]
rs5357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536358	0.83[CEU][hapmap]
rs5367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541711	0.83[CEU][hapmap]
rs544008	0.82[CEU][hapmap]
rs549537	0.83[CEU][hapmap]
rs554060	0.83[CEU][hapmap]
rs560414	0.83[CEU][hapmap]
rs56230202	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562837	0.83[CEU][hapmap]
rs565397	0.82[CEU][hapmap]
rs565626	0.83[CEU][hapmap]
rs57357201	1.00[ASN][1000 genomes]
rs575147	0.82[CEU][hapmap]
rs579553	0.83[CEU][hapmap]
rs582900	0.83[CEU][hapmap]
rs590181	0.82[CEU][hapmap]
rs593406	0.83[CEU][hapmap]
rs601355	0.82[CEU][hapmap]
rs602556	0.83[CEU][hapmap]
rs612548	0.83[CEU][hapmap]
rs618149	0.83[CEU][hapmap]
rs644834	0.83[CEU][hapmap]
rs647113	0.83[CEU][hapmap]
rs655133	0.83[CEU][hapmap]
rs656334	0.83[CEU][hapmap]
rs656848	0.90[CEU][hapmap]
rs657254	0.83[CEU][hapmap]
rs664598	0.83[CEU][hapmap]
rs664962	0.82[CEU][hapmap]
rs671921	0.89[CEU][hapmap]
rs672843	0.88[CEU][hapmap]
rs673789	0.82[CEU][hapmap]
rs674896	0.83[CEU][hapmap]
rs675394	0.83[CEU][hapmap]
rs676020	0.83[CEU][hapmap]
rs685155	0.83[CEU][hapmap]
rs686519	0.83[CEU][hapmap]
rs909628	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs9645328	0.81[EUR][1000 genomes]
rs9645329	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs17593568	C1orf156	cis	uninvolved skin	skin_eQTL
rs17593568	METTL18	cis	lung	GTEx
rs17593568	METTL18	cis	Artery Aorta	GTEx
rs17593568	METTL18	cis	Nerve Tibial	GTEx
rs17593568	METTL18	cis	Adipose Subcutaneous	GTEx
rs17593568	C1orf156	cis	lesional skin	skin_eQTL
rs17593568	METTL18	cis	Esophagus Mucosa	GTEx
rs17593568	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs17593568	METTL18	cis	Muscle Skeletal	GTEx
rs17593568	METTL18	cis	Heart Left Ventricle	GTEx
rs17593568	METTL18	cis	Stomach	GTEx
rs17593568	METTL18	cis	Esophagus Muscularis	GTEx
rs17593568	METTL18	cis	Artery Tibial	GTEx
rs17593568	METTL18	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169732600-169735000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:169734000-169735200	Active TSS	Liver	Liver
3	chr1:169734600-169735000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:169734800-169736200	Enhancers	HepG2	liver

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