Variant report

Variant	rs6954777
Chromosome Location	chr7:104925921-104925922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1010340	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10224539	0.91[EUR][1000 genomes]
rs10267939	0.85[EUR][1000 genomes]
rs10953475	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1135958	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1204061	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12154942	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12155184	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12155351	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530690	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12532134	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532188	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532201	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12532268	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12533264	0.91[EUR][1000 genomes]
rs12533348	0.92[EUR][1000 genomes]
rs12534381	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12535043	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12535338	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12536794	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12537196	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12537307	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12538590	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1468359	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1558048	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17270450	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17342493	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17640508	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17640599	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17640644	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17640711	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707802	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17707878	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17708070	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2040915	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2079340	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2079341	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299309	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2299327	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2299328	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2385557	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3087867	0.92[EUR][1000 genomes]
rs35787127	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801279	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4406343	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4580973	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4605996	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55671517	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55712418	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55949446	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56132497	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56251298	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56269269	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56281713	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56338352	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57423264	0.89[EUR][1000 genomes]
rs57599523	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60358227	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6466048	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466049	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6466050	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466051	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466061	0.92[EUR][1000 genomes]
rs66469172	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66482905	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66638610	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66790006	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66912872	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67154126	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67162771	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67180946	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67421818	0.88[EUR][1000 genomes]
rs67505443	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67529088	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67620169	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67780803	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67909511	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68113831	0.88[EUR][1000 genomes]
rs6942483	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6945585	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6949073	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6949830	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6950104	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6952458	0.87[EUR][1000 genomes]
rs6954293	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6954421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954830	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6954844	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955133	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6955753	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6958609	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963624	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6963661	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6966539	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6968238	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6968335	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6972563	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6973338	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6973708	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6974780	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974874	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6974890	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977994	0.85[EUR][1000 genomes]
rs6978954	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6979284	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73186041	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73186054	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776832	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7780006	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782673	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7782827	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7790653	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794036	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7794285	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7796274	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796945	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7797988	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7801685	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7802168	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802568	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7802653	0.91[EUR][1000 genomes]
rs7805639	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7805928	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808226	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7809329	0.87[EUR][1000 genomes]
rs7809464	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription 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 target site	38 gene(s)	inside rSNPs	diseases
10	nsv888928	chr7:104897964-104944847	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv2753646	chr7:104905588-104972800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104910200-104935000	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:104910800-104926000	Weak transcription	Right Atrium	heart
3	chr7:104910800-104929000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr7:104910800-104934400	Weak transcription	Primary T cells from cord blood	blood
5	chr7:104910800-104946000	Weak transcription	Primary B cells from cord blood	blood
6	chr7:104911400-104934800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:104912000-104929800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:104912200-104939200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:104913200-104936200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:104917200-104944600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:104917400-104926400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:104918200-104939000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:104919200-104939000	Weak transcription	Pancreas	Pancrea
14	chr7:104919800-104939000	Weak transcription	Thymus	Thymus
15	chr7:104919800-104939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:104920000-104926200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:104920000-104927000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:104920000-104929400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:104920400-104926000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:104920400-104926000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:104920400-104926200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:104920400-104939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:104920600-104937200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:104920600-104959600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:104920800-104926200	Weak transcription	Brain Substantia Nigra	brain
26	chr7:104923200-104944200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:104923800-104926400	Weak transcription	Fetal Heart	heart
28	chr7:104924800-104926200	Enhancers	K562	blood
29	chr7:104924800-104939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:104924800-104939200	Weak transcription	Left Ventricle	heart
31	chr7:104925000-104926000	Weak transcription	Brain Angular Gyrus	brain
32	chr7:104925000-104926400	Weak transcription	Small Intestine	intestine
33	chr7:104925000-104926600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:104925000-104936200	Weak transcription	HepG2	liver
35	chr7:104925000-104944200	Weak transcription	A549	lung
36	chr7:104925200-104927400	Enhancers	Brain Hippocampus Middle	brain
37	chr7:104925400-104926200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:104925400-104926200	Weak transcription	Dnd41	blood
39	chr7:104925600-104926000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:104925600-104926000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:104925800-104926400	Enhancers	Fetal Thymus	thymus

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