Variant report

Variant	rs72750478
Chromosome Location	chr9:95063425-95063426
allele	A/G
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	MAFK	chr9:95063232-95063604	HepG2	liver:	n/a	chr9:95063408-95063423
2	MAFK	chr9:95063233-95063606	K562	blood:	n/a	chr9:95063408-95063423
3	MAFK	chr9:95063233-95063607	IMR90	lung:	n/a	chr9:95063408-95063423
4	MAFF	chr9:95063232-95063605	K562	blood:	n/a	chr9:95063406-95063424
5	MAFK	chr9:95063243-95063593	Hela-S3	cervix:	n/a	chr9:95063408-95063423
6	MAFK	chr9:95063184-95063801	GM12878	blood:	n/a	chr9:95063408-95063423
7	MAFK	chr9:95063233-95063593	HepG2	liver:	n/a	chr9:95063408-95063423
8	MAFK	chr9:95063263-95063585	H1-hESC	embryonic stem cell:	n/a	chr9:95063408-95063423
9	MAFF	chr9:95063237-95063619	HepG2	liver:	n/a	chr9:95063406-95063424

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95063177..95065407-chr9:95086745..95088590,2	MCF-7	breast:
2	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:

Variant related genes	Relation type
NOL8	TF binding region
ENSG00000198000	Chromatin interaction
ENSG00000188312	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs15717	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518691	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518754	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519320	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17519397	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17519453	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17519719	1.00[AMR][1000 genomes]
rs17519922	1.00[AMR][1000 genomes]
rs17590748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17591007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17591372	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17591776	1.00[AMR][1000 genomes]
rs17591958	1.00[AMR][1000 genomes]
rs17677599	0.90[ASN][1000 genomes]
rs17678735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2230405	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236343	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2236344	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2273860	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274967	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34758505	0.93[AMR][1000 genomes]
rs34860658	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3736834	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736836	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737147	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758231	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780340	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780341	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780342	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780348	1.00[AMR][1000 genomes]
rs3780349	1.00[AMR][1000 genomes]
rs41276835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277647	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41280223	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41297183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41301527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41307467	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41312230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59083571	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59627747	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61742574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67546506	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750403	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750404	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750405	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750407	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750408	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750409	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750418	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750419	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750420	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750421	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750422	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750426	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750427	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750430	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750431	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750432	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750433	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750434	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750437	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750438	0.83[EUR][1000 genomes]
rs72750441	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750445	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750447	1.00[ASN][1000 genomes]
rs72750448	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750449	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750450	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750451	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750454	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750456	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750457	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750477	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750491	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750496	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752417	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752422	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752435	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752467	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752469	1.00[AMR][1000 genomes]
rs72752471	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752472	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752474	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752475	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752477	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752479	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752482	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752483	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752484	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752485	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752486	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752492	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752493	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752497	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752502	1.00[AMR][1000 genomes]
rs72754403	1.00[AMR][1000 genomes]
rs72754404	1.00[AMR][1000 genomes]
rs72754408	1.00[AMR][1000 genomes]
rs72754410	1.00[AMR][1000 genomes]
rs72754411	1.00[AMR][1000 genomes]
rs72754415	1.00[AMR][1000 genomes]
rs72754418	1.00[AMR][1000 genomes]
rs72754420	1.00[AMR][1000 genomes]
rs72754421	1.00[AMR][1000 genomes]
rs72754423	1.00[AMR][1000 genomes]
rs72754425	1.00[AMR][1000 genomes]
rs72754427	1.00[AMR][1000 genomes]
rs7872423	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs921122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1045165	chr9:95057462-95138564	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95056800-95086800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:95057000-95064800	Weak transcription	Ovary	ovary
3	chr9:95057000-95065000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:95057000-95070400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:95057000-95072600	Weak transcription	Gastric	stomach
6	chr9:95057000-95087000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:95057200-95069000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:95057400-95064600	Weak transcription	Right Ventricle	heart
9	chr9:95057400-95071200	Weak transcription	Small Intestine	intestine
10	chr9:95058000-95086200	Weak transcription	Stomach Mucosa	stomach
11	chr9:95058200-95073600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr9:95058200-95073600	Strong transcription	HUVEC	blood vessel
13	chr9:95058200-95074600	Strong transcription	Fetal Thymus	thymus
14	chr9:95058200-95074800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:95058200-95085800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:95058400-95073400	Strong transcription	Fetal Lung	lung
17	chr9:95058400-95073600	Strong transcription	HMEC	breast
18	chr9:95058400-95074200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr9:95058400-95074800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:95058400-95085600	Strong transcription	Placenta	Placenta
21	chr9:95058400-95085800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:95058400-95085800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:95058400-95086200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:95058600-95071000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:95058600-95071200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:95058600-95073800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:95058600-95085800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:95058600-95085800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:95058800-95067600	Weak transcription	Fetal Heart	heart
30	chr9:95058800-95073600	Strong transcription	NHDF-Ad	bronchial
31	chr9:95058800-95073800	Strong transcription	Dnd41	blood
32	chr9:95059000-95066000	Strong transcription	K562	blood
33	chr9:95059000-95073600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr9:95059000-95073600	Strong transcription	A549	lung
35	chr9:95059000-95074600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:95059200-95064200	Strong transcription	NHEK	skin
37	chr9:95059200-95072800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:95059200-95073400	Strong transcription	NH-A	brain
39	chr9:95059200-95073600	Strong transcription	Osteobl	bone
40	chr9:95059200-95073800	Strong transcription	Brain Cingulate Gyrus	brain
41	chr9:95059200-95074000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:95059200-95074200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:95059200-95074200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:95059200-95074400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr9:95059200-95074400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr9:95059200-95074400	Strong transcription	Liver	Liver
47	chr9:95059200-95074400	Strong transcription	Brain Hippocampus Middle	brain
48	chr9:95059200-95074600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:95059200-95074800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr9:95059200-95074800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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