Variant report

Variant	rs1744926
Chromosome Location	chr6:163891894-163891895
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163890293..163893385-chr6:163894823..163897543,3	K562	blood:
2	chr6:163833418..163836921-chr6:163889565..163892236,3	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs1003528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1016501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016502	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040514	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047944	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs11752044	1.00[ASN][1000 genomes]
rs12194023	1.00[ASN][1000 genomes]
rs1230321	1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234603	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234976	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1614795	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619076	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619863	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629251	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737317	1.00[CHB][hapmap]
rs1737323	1.00[CHB][hapmap]
rs1737329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737333	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737600	1.00[CHB][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];1.00[ASN][1000 genomes]
rs1737601	1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737603	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737604	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737606	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737607	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737609	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737611	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737612	1.00[ASN][1000 genomes]
rs1744924	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744925	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744928	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744933	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1745094	1.00[ASN][1000 genomes]
rs1764008	1.00[CHB][hapmap]
rs2038146	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038147	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038148	0.83[CEU][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs2057003	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092406	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092407	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103671	0.86[EUR][1000 genomes]
rs2179523	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179524	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321698	1.00[ASN][1000 genomes]
rs2321700	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321701	1.00[ASN][1000 genomes]
rs2321702	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484877	1.00[ASN][1000 genomes]
rs2744420	1.00[ASN][1000 genomes]
rs2744421	1.00[ASN][1000 genomes]
rs2745364	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745365	1.00[ASN][1000 genomes]
rs2757579	1.00[ASN][1000 genomes]
rs2757580	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757581	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757582	1.00[ASN][1000 genomes]
rs2757583	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757586	0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757587	0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757588	1.00[CHB][hapmap]
rs2757589	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759381	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759382	0.85[EUR][1000 genomes]
rs2759383	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759384	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759385	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs2759387	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759388	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs2759389	0.82[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759390	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759391	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs2759392	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759393	0.83[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759395	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759398	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759399	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784865	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2784867	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2784873	1.00[ASN][1000 genomes]
rs2784874	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs2874602	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708996	1.00[ASN][1000 genomes]
rs4708997	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56721804	1.00[ASN][1000 genomes]
rs6455900	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455901	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6455902	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455903	0.86[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455904	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905852	0.85[EUR][1000 genomes]
rs6906008	0.85[EUR][1000 genomes]
rs6909364	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913113	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914387	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915247	0.83[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924130	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926584	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927417	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931049	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721190	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721191	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746116	1.00[ASN][1000 genomes]
rs7749189	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751784	0.82[EUR][1000 genomes]
rs7752945	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7761088	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768051	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769145	1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775850	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776279	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783136	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783138	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783140	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs803613	1.00[ASN][1000 genomes]
rs809155	1.00[ASN][1000 genomes]
rs813640	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs814143	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295222	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295223	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295224	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs9347754	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347755	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347756	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347759	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347763	1.00[ASN][1000 genomes]
rs9355427	1.00[CHB][hapmap]
rs9356117	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356119	1.00[CHB][hapmap]
rs9356120	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356121	1.00[ASN][1000 genomes]
rs9365572	0.85[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365573	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365574	0.83[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365577	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9456866	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456869	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1797109	chr6:163834147-163908115	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv523664	chr6:163858237-163907885	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1744926	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163878800-163910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:163880600-163896600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:163880600-163897600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:163880600-163903200	Weak transcription	Pancreas	Pancrea
5	chr6:163880600-163906600	Weak transcription	Gastric	stomach
6	chr6:163881800-163897600	Weak transcription	Ovary	ovary
7	chr6:163881800-163901000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:163881800-163910800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:163882000-163899800	Weak transcription	Placenta	Placenta
10	chr6:163882000-163900000	Weak transcription	Fetal Thymus	thymus
11	chr6:163882000-163906600	Weak transcription	Thymus	Thymus
12	chr6:163883000-163895800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:163883000-163900800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:163883000-163900800	Weak transcription	NH-A	brain
15	chr6:163883000-163906800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:163883800-163897000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:163884000-163895800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:163885200-163893000	Weak transcription	Right Ventricle	heart
19	chr6:163887200-163893000	Weak transcription	Psoas Muscle	Psoas
20	chr6:163887200-163900000	Weak transcription	Fetal Stomach	stomach
21	chr6:163888400-163892200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:163888400-163893200	Weak transcription	Left Ventricle	heart
23	chr6:163888400-163902800	Weak transcription	Right Atrium	heart
24	chr6:163888400-163908200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:163889400-163897400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:163890000-163892600	ZNF genes & repeats	GM12878-XiMat	blood
27	chr6:163890000-163893200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:163890000-163893400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:163890000-163900200	Weak transcription	Liver	Liver
30	chr6:163890000-163906200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:163890200-163892400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:163890200-163892600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr6:163890200-163892800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr6:163890200-163892800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr6:163890400-163892200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:163890400-163892400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr6:163890400-163892600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:163890600-163892000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr6:163890600-163892400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr6:163890600-163892400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:163890600-163892400	ZNF genes & repeats	HepG2	liver
42	chr6:163890600-163892800	ZNF genes & repeats	A549	lung
43	chr6:163890600-163893000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:163890600-163893200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr6:163890800-163892000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:163890800-163892000	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr6:163890800-163892400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:163890800-163893200	Weak transcription	HSMMtube	muscle
49	chr6:163890800-163893600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:163890800-163911400	Weak transcription	Osteobl	bone

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