Variant report

Variant	rs7766113
Chromosome Location	chr6:30976647-30976648
allele	C/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	CEBPB	chr6:30976622-30976873	HepG2	liver:	n/a	chr6:30976725-30976736
2	CEBPB	chr6:30976628-30976872	IMR90	lung:	n/a	chr6:30976725-30976736

No.	Distal block	Cell Line	Cell type
1	chr6:26157901..26159583-chr6:30975186..30977903,2	K562	blood:
2	chr6:30976019..30976653-chr6:31010220..31010809,2	MCF-7	breast:
3	chr6:30967966..30971967-chr6:30974378..30977539,3	K562	blood:
4	chr6:30954105..30955673-chr6:30975592..30977694,2	K562	blood:

Variant related genes	Relation type
MUC22	TF binding region
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 180 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs2108775	0.85[AMR][1000 genomes]
rs2248481	0.85[AMR][1000 genomes]
rs2249168	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2252921	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2252925	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2252926	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253417	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255625	0.85[AMR][1000 genomes]
rs2255626	0.85[AMR][1000 genomes]
rs2255719	0.85[AMR][1000 genomes]
rs2256514	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2263302	0.85[AMR][1000 genomes]
rs2263303	0.85[AMR][1000 genomes]
rs2263304	0.85[AMR][1000 genomes]
rs2263305	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2263306	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2394857	0.85[AMR][1000 genomes]
rs2429295	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2508016	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2508019	0.85[AMR][1000 genomes]
rs2508020	0.85[AMR][1000 genomes]
rs2517400	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517401	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517402	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517404	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2517406	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2517408	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2517409	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2517411	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2517412	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2517415	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2517416	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2517418	0.85[AMR][1000 genomes]
rs2517419	0.85[AMR][1000 genomes]
rs2517420	0.85[AMR][1000 genomes]
rs2517421	0.85[AMR][1000 genomes]
rs2517422	0.85[AMR][1000 genomes]
rs2517424	0.85[AMR][1000 genomes]
rs2517426	0.85[AMR][1000 genomes]
rs2517428	0.85[AMR][1000 genomes]
rs2517430	0.85[AMR][1000 genomes]
rs2517432	0.83[AMR][1000 genomes]
rs2517434	0.85[AMR][1000 genomes]
rs2517435	0.85[AMR][1000 genomes]
rs2517436	0.85[AMR][1000 genomes]
rs2517437	0.85[AMR][1000 genomes]
rs2517439	0.85[AMR][1000 genomes]
rs2517441	0.85[AMR][1000 genomes]
rs2517442	0.85[AMR][1000 genomes]
rs2517444	0.85[AMR][1000 genomes]
rs2517445	0.85[AMR][1000 genomes]
rs2517446	0.85[AMR][1000 genomes]
rs2517447	0.85[AMR][1000 genomes]
rs2523907	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523908	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523909	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2523910	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2523911	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523912	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523913	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523915	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523916	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523919	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523920	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523921	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523923	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2523924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523926	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523927	0.85[AMR][1000 genomes]
rs2523928	0.85[AMR][1000 genomes]
rs2523929	0.85[AMR][1000 genomes]
rs2523930	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2530687	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2530688	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2530689	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2530690	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2530691	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2530694	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2530695	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2530697	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2530698	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2530699	0.85[AMR][1000 genomes]
rs2530700	0.85[AMR][1000 genomes]
rs2530701	0.85[AMR][1000 genomes]
rs2530702	0.85[AMR][1000 genomes]
rs2530703	0.85[AMR][1000 genomes]
rs2530705	0.85[AMR][1000 genomes]
rs2530706	0.85[AMR][1000 genomes]
rs2530708	0.85[AMR][1000 genomes]
rs2530711	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2530716	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2530717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2530718	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844667	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844671	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844673	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2844675	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844676	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844677	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2844678	0.85[AMR][1000 genomes]
rs2844679	0.85[AMR][1000 genomes]
rs2844682	0.85[AMR][1000 genomes]
rs2844684	0.85[AMR][1000 genomes]
rs2844685	0.85[AMR][1000 genomes]
rs2844686	0.85[AMR][1000 genomes]
rs2844687	0.85[AMR][1000 genomes]
rs2844688	0.85[AMR][1000 genomes]
rs2844689	0.85[AMR][1000 genomes]
rs2844690	0.85[AMR][1000 genomes]
rs2844691	0.84[AMR][1000 genomes]
rs2844692	0.85[AMR][1000 genomes]
rs2844693	0.85[AMR][1000 genomes]
rs2844694	0.85[AMR][1000 genomes]
rs3131928	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3131929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs380808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3873345	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3906267	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3906268	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs436376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713410	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4713413	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4713414	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4713415	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5002840	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6905885	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6910484	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6912926	0.82[AMR][1000 genomes]
rs6914450	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6914559	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7761278	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7765796	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262315	0.85[AMR][1000 genomes]
rs9262431	0.82[AMR][1000 genomes]
rs9262435	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9262436	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9262437	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9262445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9262446	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9262447	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9262450	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9262451	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9262456	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262458	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262460	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9262461	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9262462	0.81[AMR][1000 genomes]
rs9262463	0.81[EUR][1000 genomes]
rs9262468	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9262470	0.82[AMR][1000 genomes]
rs9262471	0.81[AMR][1000 genomes]
rs9262472	0.81[AMR][1000 genomes]
rs9262493	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9262494	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9262495	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9262496	0.82[AMR][1000 genomes]
rs9262527	0.82[AMR][1000 genomes]
rs9262528	0.81[AMR][1000 genomes]
rs9262536	0.81[AMR][1000 genomes]
rs9262541	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9262542	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9262544	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9262545	0.82[AMR][1000 genomes]
rs9262546	0.82[AMR][1000 genomes]
rs9262547	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	esv3358044	chr6:30940552-31000175	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1023108	chr6:30944982-30990490	Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv462745	chr6:30955681-30987176	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv601485	chr6:30955681-30987176	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv601486	chr6:30957618-30980015	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv970676	chr6:30966672-30987268	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv601487	chr6:30972589-30991559	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 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	chr6:30970600-30978000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:30972600-30997600	Weak transcription	Right Atrium	heart
3	chr6:30975000-30979400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:30976200-30977400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:30976200-30978200	Weak transcription	Osteobl	bone
6	chr6:30976200-30978400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:30976200-30978400	Weak transcription	NH-A	brain
8	chr6:30976200-30978400	Weak transcription	NHEK	skin
9	chr6:30976400-30977400	Weak transcription	NHDF-Ad	bronchial
10	chr6:30976400-30977600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:30976400-30977600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:30976400-30978200	Weak transcription	HMEC	breast
13	chr6:30976400-30978400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:30976400-30978400	Weak transcription	HSMM	muscle

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