Variant report

Variant	rs3848319
Chromosome Location	chr16:48610933-48610934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48604843..48606957-chr16:48609815..48611757,2	K562	blood:

Extended variants
information (count: 161 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1039340	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1039341	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1039342	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1039343	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1039344	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1106386	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11076570	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076571	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076572	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076573	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076578	0.82[EUR][1000 genomes]
rs1115758	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115759	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1120275	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1120276	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11495819	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11640119	0.87[ASN][1000 genomes]
rs11640463	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11641458	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11641510	0.99[ASN][1000 genomes]
rs11643264	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11643272	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11644518	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11645193	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11647046	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11647048	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648101	0.81[EUR][1000 genomes]
rs11649236	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11859909	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1224	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12444902	0.86[ASN][1000 genomes]
rs12446280	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12597928	0.82[EUR][1000 genomes]
rs12598514	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12933948	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12935540	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13330784	0.88[ASN][1000 genomes]
rs13331298	0.86[ASN][1000 genomes]
rs13331902	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13332125	0.88[ASN][1000 genomes]
rs13335847	0.84[EUR][1000 genomes]
rs1386040	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1386042	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477134	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1486411	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1486412	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1564979	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1564980	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16946342	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17826468	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1825683	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1872652	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1872654	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1872655	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1909765	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987061	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2041921	0.82[EUR][1000 genomes]
rs2080507	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2080508	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2101372	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2129243	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2354578	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2354579	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28432694	0.86[ASN][1000 genomes]
rs28481630	0.88[ASN][1000 genomes]
rs28577888	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2883475	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2883641	0.86[ASN][1000 genomes]
rs34813315	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36077931	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3743779	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3743780	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3817029	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826174	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3843724	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848320	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3848321	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3848322	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4277341	0.85[ASN][1000 genomes]
rs4471681	0.86[ASN][1000 genomes]
rs4493038	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4785247	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4785248	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4785528	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55671623	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55782524	0.92[EUR][1000 genomes]
rs57903644	0.85[ASN][1000 genomes]
rs61098261	0.83[ASN][1000 genomes]
rs6500395	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500396	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6500397	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6500398	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6500405	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7184070	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7184144	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7185541	0.86[ASN][1000 genomes]
rs7187513	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7188741	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7191028	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7191225	0.88[ASN][1000 genomes]
rs7192297	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7194570	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7195684	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7196823	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7197732	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7198145	0.86[ASN][1000 genomes]
rs7198773	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7199206	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7199625	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7201196	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7204345	0.86[ASN][1000 genomes]
rs74017013	0.86[ASN][1000 genomes]
rs8044519	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8050844	0.86[ASN][1000 genomes]
rs8052073	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8052640	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053598	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8057165	0.85[EUR][1000 genomes]
rs8057777	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8058362	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8059819	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8059905	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868792	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs871902	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924476	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs989070	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921737	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921741	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9922356	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9922734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9923371	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9923753	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9924078	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9924483	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9925406	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9927888	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9928051	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9930199	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9931123	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9931737	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9933187	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9933329	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9933976	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9934626	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934844	0.84[EUR][1000 genomes]
rs9936004	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9936271	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936445	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936446	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9936454	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9937134	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9937568	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937610	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9937623	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9938126	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9938308	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9938890	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939103	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9941275	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9941336	0.84[AMR][1000 genomes];0.92[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	nsv974813	chr16:48610747-48612080	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3848319	N4BP1	cis	multi-tissue	Pritchard

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48583800-48617800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:48591200-48611400	Weak transcription	Fetal Intestine Small	intestine
3	chr16:48591200-48611600	Weak transcription	Fetal Brain Female	brain
4	chr16:48591400-48617200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:48592600-48613400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:48592800-48611000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:48594000-48617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:48595200-48624000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:48596000-48613600	Weak transcription	Fetal Intestine Large	intestine
10	chr16:48596000-48624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:48596200-48612800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr16:48596200-48612800	Weak transcription	Placenta	Placenta
13	chr16:48596200-48615200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:48596400-48611800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:48596400-48613400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:48596400-48615000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:48596400-48617200	Weak transcription	NH-A	brain
18	chr16:48596600-48612200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:48596800-48624400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr16:48602000-48611600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:48603000-48614200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:48603400-48611000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:48604000-48611400	Weak transcription	Fetal Stomach	stomach
24	chr16:48604400-48611800	Weak transcription	Fetal Muscle Leg	muscle
25	chr16:48604800-48611600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr16:48605000-48613000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr16:48605000-48613200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:48605000-48630200	Weak transcription	Spleen	Spleen
29	chr16:48605200-48612400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr16:48605400-48613400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr16:48606000-48611200	Enhancers	Primary T cells from cord blood	blood
32	chr16:48606200-48611600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr16:48606800-48611600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:48607000-48613400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:48607600-48611000	Enhancers	Liver	Liver
36	chr16:48607800-48611600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:48607800-48613000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:48608000-48611800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr16:48608200-48613000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr16:48608200-48613000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:48608400-48612200	Enhancers	Left Ventricle	heart
42	chr16:48608600-48612200	Enhancers	HMEC	breast
43	chr16:48608600-48613200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:48608600-48613600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr16:48608800-48611000	Enhancers	Ovary	ovary
46	chr16:48608800-48611200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:48608800-48611600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr16:48608800-48611600	Enhancers	Stomach Mucosa	stomach
49	chr16:48609000-48611200	Weak transcription	Osteobl	bone
50	chr16:48609000-48612800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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