Variant report

Variant	rs7320759
Chromosome Location	chr13:48538428-48538429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs1041070	0.83[ASN][1000 genomes]
rs1098354	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11148099	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11148100	0.88[ASN][1000 genomes]
rs11618397	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11839719	0.85[ASN][1000 genomes]
rs1185727	0.82[ASN][1000 genomes]
rs12429137	0.80[ASN][1000 genomes]
rs12430773	0.85[ASN][1000 genomes]
rs12431098	0.85[ASN][1000 genomes]
rs12431108	0.85[ASN][1000 genomes]
rs1326135	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1326136	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1326138	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1326139	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1326140	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1536301	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1544078	0.89[ASN][1000 genomes]
rs17071168	0.88[ASN][1000 genomes]
rs1853929	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886975	0.92[ASN][1000 genomes]
rs1886976	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1926089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972347	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2031590	0.86[ASN][1000 genomes]
rs2094194	0.82[ASN][1000 genomes]
rs2148243	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2148244	0.91[ASN][1000 genomes]
rs2148245	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182376	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296574	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2406693	0.92[ASN][1000 genomes]
rs2406697	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2406698	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2406699	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4245347	0.91[ASN][1000 genomes]
rs4447314	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4522322	0.86[ASN][1000 genomes]
rs4941619	0.84[ASN][1000 genomes]
rs4941621	0.86[ASN][1000 genomes]
rs4942725	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942726	0.84[ASN][1000 genomes]
rs4942727	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942728	0.88[ASN][1000 genomes]
rs4942729	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942730	0.81[ASN][1000 genomes]
rs4942733	0.81[ASN][1000 genomes]
rs4942735	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6561417	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561419	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6561420	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6561424	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6561427	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6561429	0.81[ASN][1000 genomes]
rs6561430	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6561431	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6561432	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs718010	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318770	0.86[ASN][1000 genomes]
rs7319245	0.86[ASN][1000 genomes]
rs7320366	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7320461	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322515	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7324541	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7325189	0.84[ASN][1000 genomes]
rs7325437	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7326889	0.92[ASN][1000 genomes]
rs7326984	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7327260	0.81[EUR][1000 genomes]
rs7327265	0.80[ASN][1000 genomes]
rs7327730	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7328525	0.86[ASN][1000 genomes]
rs7328537	0.86[ASN][1000 genomes]
rs7328549	0.81[EUR][1000 genomes]
rs7329419	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7330130	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7330913	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7331285	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7332304	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7333659	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7333821	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334207	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335788	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336972	0.86[ASN][1000 genomes]
rs7337004	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7337744	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7338125	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338373	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7338894	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73477056	0.81[ASN][1000 genomes]
rs73477058	0.81[ASN][1000 genomes]
rs73487297	0.81[ASN][1000 genomes]
rs73489242	0.85[ASN][1000 genomes]
rs73493339	0.85[ASN][1000 genomes]
rs73493351	0.85[ASN][1000 genomes]
rs73495307	0.81[ASN][1000 genomes]
rs73495326	0.81[ASN][1000 genomes]
rs765809	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7982426	0.81[ASN][1000 genomes]
rs7985357	0.91[ASN][1000 genomes]
rs7989231	0.86[ASN][1000 genomes]
rs7990244	0.86[ASN][1000 genomes]
rs7990266	0.86[ASN][1000 genomes]
rs7990505	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7991049	0.83[ASN][1000 genomes]
rs7994359	0.88[ASN][1000 genomes]
rs7997802	0.86[ASN][1000 genomes]
rs7998116	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7998260	0.86[ASN][1000 genomes]
rs7998497	0.86[ASN][1000 genomes]
rs7998998	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7999360	0.80[ASN][1000 genomes]
rs7999505	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8000164	0.86[ASN][1000 genomes]
rs8001432	0.86[ASN][1000 genomes]
rs9316339	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9316343	0.86[ASN][1000 genomes]
rs9316344	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526417	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526422	0.91[ASN][1000 genomes]
rs9526423	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526424	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526426	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526429	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526430	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526433	0.86[ASN][1000 genomes]
rs9526434	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9534876	0.89[ASN][1000 genomes]
rs9534877	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534878	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534879	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534880	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534882	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534885	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534889	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9534892	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534896	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9534897	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9534898	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534901	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534903	0.86[ASN][1000 genomes]
rs9534904	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534905	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534906	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534907	0.86[ASN][1000 genomes]
rs9534908	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534909	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9534912	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534913	0.86[ASN][1000 genomes]
rs9534914	0.80[ASN][1000 genomes]
rs9534922	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9534923	0.84[ASN][1000 genomes]
rs9534926	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534929	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562787	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567954	0.83[ASN][1000 genomes]
rs9567955	0.83[ASN][1000 genomes]
rs9567958	0.92[ASN][1000 genomes]
rs9567959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567960	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567963	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567964	0.91[ASN][1000 genomes]
rs9567972	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9567976	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9595815	0.82[ASN][1000 genomes]
rs9595825	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7320759	SUCLA2	Cis_1M	lymphoblastoid	RTeQTL
rs7320759	MED4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48507200-48548800	Weak transcription	Stomach Mucosa	stomach
2	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr13:48523000-48541600	Weak transcription	Psoas Muscle	Psoas
4	chr13:48523000-48542600	Weak transcription	K562	blood
5	chr13:48528000-48545800	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:48528600-48541000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:48529400-48540200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr13:48530000-48541000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:48530000-48541200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr13:48530600-48538800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr13:48530600-48540200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:48530600-48540400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr13:48532000-48540800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:48532000-48551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:48532200-48565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:48532400-48539800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:48532400-48540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr13:48532400-48546000	Weak transcription	Aorta	Aorta
19	chr13:48532400-48559400	Weak transcription	Gastric	stomach
20	chr13:48532400-48565200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:48532600-48545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:48532800-48545800	Weak transcription	Brain Substantia Nigra	brain
23	chr13:48533200-48540600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr13:48533600-48539400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:48533600-48540200	Strong transcription	Placenta	Placenta
26	chr13:48533800-48548000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr13:48534000-48540400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr13:48534000-48541200	Strong transcription	Fetal Thymus	thymus
29	chr13:48534000-48543000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:48534000-48560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr13:48534200-48538600	Strong transcription	Fetal Kidney	kidney
32	chr13:48534200-48540400	Strong transcription	Primary T cells from cord blood	blood
33	chr13:48534200-48540600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:48534200-48540600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:48534200-48540600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr13:48534200-48541400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:48534200-48541600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:48534200-48542800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:48534200-48542800	Strong transcription	Adipose Nuclei	Adipose
40	chr13:48534200-48543000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:48534200-48545200	Weak transcription	Spleen	Spleen
42	chr13:48534200-48545800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
44	chr13:48534400-48539200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr13:48534400-48539800	Weak transcription	Brain Anterior Caudate	brain
46	chr13:48534400-48540400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:48534400-48540400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr13:48534400-48540800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:48534400-48541000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr13:48534400-48541400	Strong transcription	Fetal Muscle Leg	muscle

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