Variant report

Variant	rs9436882
Chromosome Location	chr1:47801904-47801905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47801557..47803991-chr1:47820386..47821955,2	K562	blood:
2	chr1:47772551..47781833-chr1:47797933..47806586,42	K562	blood:
3	chr1:47800841..47802489-chr1:47901658..47903187,2	K562	blood:
4	chr1:47696136..47700063-chr1:47798634..47802913,8	K562	blood:
5	chr1:47758513..47761488-chr1:47799880..47802069,3	K562	blood:
6	chr1:47765608..47767476-chr1:47799795..47801980,2	K562	blood:

Variant related genes	Relation type
ENSG00000186564	Chromatin interaction
ENSG00000123473	Chromatin interaction
ENSG00000162367	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10157883	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1028646	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1028647	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10399673	0.81[JPT][hapmap]
rs1044457	0.82[CEU][hapmap]
rs10789507	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10890475	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10890476	0.87[ASN][1000 genomes]
rs10890478	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11211504	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11211508	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11211510	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211511	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211513	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11211517	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211520	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11211522	0.82[ASN][1000 genomes]
rs11211523	0.81[ASN][1000 genomes]
rs11211524	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs11578038	0.91[ASN][1000 genomes]
rs11582877	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12024163	0.89[ASN][1000 genomes]
rs12039726	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12040451	0.89[ASN][1000 genomes]
rs12042624	0.87[ASN][1000 genomes]
rs12047319	0.87[ASN][1000 genomes]
rs12118514	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12121831	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12125261	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12126139	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12127982	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12132928	0.81[AMR][1000 genomes]
rs12138072	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12141060	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12409549	0.88[ASN][1000 genomes]
rs12562561	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12730819	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12732050	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12732410	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12743877	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17452995	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246707	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2306470	0.81[ASN][1000 genomes]
rs2472725	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2472730	0.83[ASN][1000 genomes]
rs2472731	0.81[ASN][1000 genomes]
rs2494247	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2622901	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2622905	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2622907	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2622908	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2622925	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2742081	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742099	0.83[ASN][1000 genomes]
rs2742103	0.85[ASN][1000 genomes]
rs2742104	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2758735	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2758736	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2758737	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2758744	0.85[ASN][1000 genomes]
rs2820987	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2820988	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2820989	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2821087	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2821088	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2821089	0.84[ASN][1000 genomes]
rs2821090	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2821093	0.93[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2821094	0.81[AMR][1000 genomes]
rs2821096	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2897237	0.82[ASN][1000 genomes]
rs3088062	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3122607	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3122610	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3122611	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3122615	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3122616	0.87[ASN][1000 genomes]
rs3122619	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3122620	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3122623	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3125624	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3125625	0.81[EUR][1000 genomes]
rs3125628	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3125630	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3125631	0.87[ASN][1000 genomes]
rs3125632	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3125633	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3125635	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3125636	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3125638	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3125639	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3125640	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3125641	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3125644	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs34400183	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34952704	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35711761	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35774681	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35880845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3925058	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147192	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4492666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4603175	0.81[JPT][hapmap]
rs4926824	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4926836	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4926839	0.81[ASN][1000 genomes]
rs55737131	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56987466	0.87[ASN][1000 genomes]
rs58688029	0.85[ASN][1000 genomes]
rs59492977	0.85[ASN][1000 genomes]
rs61782706	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61782712	0.85[ASN][1000 genomes]
rs61782733	0.87[ASN][1000 genomes]
rs6588348	0.93[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6588365	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6659946	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6660321	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6671254	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6673882	0.81[JPT][hapmap]
rs6681868	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6689687	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6692734	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6697248	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6703956	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6795	0.89[CEU][hapmap]
rs71645861	0.82[EUR][1000 genomes]
rs7511699	0.87[ASN][1000 genomes]
rs7525650	0.93[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7532148	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7541522	0.81[ASN][1000 genomes]
rs7541748	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543016	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7545281	0.88[ASN][1000 genomes]
rs9436394	0.87[ASN][1000 genomes]
rs9436429	0.87[ASN][1000 genomes]
rs9436430	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs9436749	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9436838	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][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	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9436882	CMPK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47799200-47802400	Active TSS	GM12878-XiMat	blood
2	chr1:47800400-47834600	Weak transcription	Spleen	Spleen
3	chr1:47800600-47806000	Weak transcription	Ovary	ovary
4	chr1:47800600-47808800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:47800600-47816000	Weak transcription	Lung	lung
6	chr1:47800600-47834400	Weak transcription	Gastric	stomach
7	chr1:47800600-47854600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:47800800-47802400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:47800800-47802400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:47800800-47802400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr1:47800800-47802400	Enhancers	Colonic Mucosa	Colon
12	chr1:47800800-47802400	Enhancers	Pancreas	Pancrea
13	chr1:47800800-47802600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:47800800-47802600	Enhancers	Left Ventricle	heart
15	chr1:47800800-47814200	Weak transcription	Aorta	Aorta
16	chr1:47800800-47819600	Weak transcription	Esophagus	oesophagus
17	chr1:47801000-47802000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:47801000-47802000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:47801000-47802000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:47801000-47802000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:47801000-47802000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:47801000-47802000	Weak transcription	Fetal Heart	heart
23	chr1:47801000-47802000	Enhancers	Fetal Stomach	stomach
24	chr1:47801000-47802200	Weak transcription	Small Intestine	intestine
25	chr1:47801000-47802200	Enhancers	HUVEC	blood vessel
26	chr1:47801000-47802400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:47801000-47802600	Enhancers	Fetal Intestine Large	intestine
28	chr1:47801000-47802600	Enhancers	Fetal Thymus	thymus
29	chr1:47801000-47803400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:47801000-47803600	Enhancers	Fetal Brain Male	brain
31	chr1:47801000-47803800	Weak transcription	A549	lung
32	chr1:47801000-47805000	Weak transcription	Brain Substantia Nigra	brain
33	chr1:47801000-47808200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:47801000-47813800	Weak transcription	Primary T cells from cord blood	blood
35	chr1:47801000-47814600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:47801000-47815800	Weak transcription	Osteobl	bone
37	chr1:47801000-47816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:47801000-47816800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:47801000-47819800	Weak transcription	Brain Angular Gyrus	brain
40	chr1:47801000-47834000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:47801000-47834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:47801000-47834200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:47801000-47834200	Weak transcription	Thymus	Thymus
44	chr1:47801000-47838200	Weak transcription	NHDF-Ad	bronchial
45	chr1:47801000-47850800	Weak transcription	NHEK	skin
46	chr1:47801200-47802000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:47801200-47802000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:47801200-47802200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:47801200-47802200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:47801200-47802200	Weak transcription	Rectal Mucosa Donor 29	rectum

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