Variant report

Variant	rs16919288
Chromosome Location	chr11:93474688-93474689
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:93473822-93475239	MCF-7	breast:	n/a	n/a
2	PML	chr11:93474374-93475003	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:93473051-93475354	GM12892	blood:	n/a	n/a
4	POU2F2	chr11:93474236-93474771	GM12878	blood:	n/a	n/a
5	HDAC2	chr11:93474563-93475079	H1-hESC	embryonic stem cell:	n/a	n/a
6	MTA3	chr11:93472992-93475442	GM12878	blood:	n/a	n/a
7	KAP1	chr11:93474191-93475254	U2OS	brain:	n/a	n/a
8	EGR1	chr11:93473811-93475346	HCT-116	colon:	n/a	chr11:93474438-93474451 chr11:93474798-93474809 chr11:93474799-93474809 chr11:93474800-93474809 chr11:93474443-93474453 chr11:93474797-93474811
9	POLR2A	chr11:93469329-93475448	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:93473658-93475376	K562	blood:	n/a	n/a
11	CREB1	chr11:93473989-93475279	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:93473630-93475350	GM12891	blood:	n/a	n/a
13	YY1	chr11:93474571-93474841	K562	blood:	n/a	chr11:93474762-93474774 chr11:93474763-93474785
14	MAFK	chr11:93473636-93475381	Hela-S3	cervix:	n/a	n/a
15	MEF2A	chr11:93474487-93475073	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr11:93473713-93475354	GM12878	blood:	n/a	n/a
17	MAX	chr11:93473942-93474915	H1-hESC	embryonic stem cell:	n/a	chr11:93474081-93474091 chr11:93474082-93474091 chr11:93474080-93474093 chr11:93474442-93474452 chr11:93474082-93474091 chr11:93474215-93474223 chr11:93474081-93474092 chr11:93474082-93474091 chr11:93474081-93474092 chr11:93474324-93474333 chr11:93474082-93474092 chr11:93474755-93474764
18	IRF4	chr11:93474469-93475226	GM12878	blood:	n/a	n/a
19	MXI1	chr11:93473866-93475438	HepG2	liver:	n/a	chr11:93474081-93474090 chr11:93474081-93474090 chr11:93474083-93474092
20	YY1	chr11:93474230-93475369	GM12878	blood:	n/a	chr11:93475353-93475364 chr11:93474762-93474774 chr11:93474763-93474785 chr11:93474438-93474452
21	POLR2A	chr11:93470883-93475415	HCT-116	colon:	n/a	n/a
22	ETS1	chr11:93474189-93474866	A549	lung:	n/a	chr11:93474702-93474711 chr11:93474699-93474708 chr11:93474608-93474621 chr11:93474437-93474448
23	ETS1	chr11:93474442-93474890	GM12878	blood:	n/a	chr11:93474702-93474711 chr11:93474699-93474708 chr11:93474608-93474621
24	MAX	chr11:93473882-93475352	K562	blood:	n/a	chr11:93474081-93474091 chr11:93474082-93474091 chr11:93474080-93474093 chr11:93474442-93474452 chr11:93474082-93474091 chr11:93474215-93474223 chr11:93474081-93474092 chr11:93474082-93474091 chr11:93474081-93474092 chr11:93474324-93474333 chr11:93474082-93474092 chr11:93474755-93474764
25	MAX	chr11:93473919-93475149	H1-hESC	embryonic stem cell:	n/a	chr11:93474081-93474091 chr11:93474082-93474091 chr11:93474080-93474093 chr11:93474442-93474452 chr11:93474082-93474091 chr11:93474215-93474223 chr11:93474081-93474092 chr11:93474082-93474091 chr11:93474081-93474092 chr11:93474324-93474333 chr11:93474082-93474092 chr11:93474755-93474764
26	SIN3AK20	chr11:93474488-93474941	HepG2	liver:	n/a	n/a
27	GATA3	chr11:93474269-93475116	A549	lung:	n/a	n/a
28	POLR2A	chr11:93473949-93475135	HUVEC	blood vessel:	n/a	n/a
29	FOSL2	chr11:93474371-93475431	HepG2	liver:	n/a	chr11:93474444-93474453
30	MXI1	chr11:93472666-93475366	GM12878	blood:	n/a	chr11:93474081-93474090 chr11:93474081-93474090 chr11:93474083-93474092
31	GATA3	chr11:93474372-93474845	T-47D	breast:	n/a	n/a
32	POLR2A	chr11:93473178-93475385	NB4	blood:	n/a	n/a
33	POLR2A	chr11:93473895-93475103	SK-N-MC	brain:	n/a	n/a
34	ZEB1	chr11:93474233-93474779	GM12878	blood:	n/a	n/a
35	SIN3AK20	chr11:93473821-93475439	HCT-116	colon:	n/a	n/a
36	SIN3AK20	chr11:93474470-93475063	HepG2	liver:	n/a	n/a
37	POLR2A	chr11:93471623-93475375	GM19099	blood:	n/a	n/a
38	KAT2A	chr11:93474182-93474843	Hela-S3	cervix:	n/a	n/a
39	REST	chr11:93473854-93475111	HL-60	blood:	n/a	n/a
40	CEBPD	chr11:93474101-93474985	K562	blood:	n/a	n/a
41	POLR2A	chr11:93473590-93475384	K562	blood:	n/a	n/a
42	TCF7L2	chr11:93473917-93475370	Hela-S3	cervix:	n/a	n/a
43	E2F4	chr11:93473748-93475296	MCF10A-Er-Src	breast:	n/a	chr11:93474443-93474452 chr11:93474832-93474841 chr11:93474759-93474773 chr11:93474329-93474344
44	PML	chr11:93473630-93475433	K562	blood:	n/a	chr11:93473730-93473739
45	TEAD4	chr11:93474426-93474816	A549	lung:	n/a	n/a
46	CHD1	chr11:93472376-93475351	GM12878	blood:	n/a	chr11:93474702-93474711 chr11:93474437-93474447
47	REST	chr11:93473826-93475482	H1-neurons	neurons:	n/a	n/a
48	CEBPB	chr11:93473951-93475452	HepG2	liver:	n/a	n/a
49	GABPA	chr11:93474441-93475076	Hela-S3	cervix:	n/a	chr11:93474443-93474452
50	POLR2A	chr11:93458130-93475423	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:93474646-93474696	NB4	blood:	n/a
2	chr11:93474646-93474696	GM12891	blood:	n/a
3	chr11:93474646-93474696	RPTEC	kidney:	n/a
4	chr11:93474646-93474696	NHDF-neo	bronchial:	n/a
5	chr11:93474646-93474696	PrEC	prostate:	n/a
6	chr11:93474646-93474696	HCF	heart:	n/a
7	chr11:93474646-93474696	HRCEpiC	kidney:	n/a
8	chr11:93474646-93474696	PFSK-1	brain:	n/a
9	chr11:93474646-93474696	AG09309	skin:	n/a
10	chr11:93474646-93474696	NT2-D1	testis:	n/a
11	chr11:93474646-93474696	LNCaP	prostate:	n/a
12	chr11:93474646-93474696	SK-N-SH_RA	brain:	n/a
13	chr11:93474646-93474696	MCF-7	breast:	n/a
14	chr11:93474646-93474696	BJ	skin:	n/a
15	chr11:93474646-93474696	HEK293	kidney:	embryo
16	chr11:93474646-93474696	T-47D	breast:	n/a
17	chr11:93474646-93474696	AG04449	skin:	fetal
18	chr11:93474646-93474696	U87	brain:	n/a
19	chr11:93474646-93474696	HepG2	liver:	n/a
20	chr11:93474646-93474696	HEEpiC	esophagus:	n/a
21	chr11:93474646-93474696	SK-N-MC	brain:	n/a
22	chr11:93474646-93474696	HUVEC	blood vessel:	n/a
23	chr11:93474646-93474696	HMEC	breast:	n/a
24	chr11:93474646-93474696	SAEC	small airway:	n/a
25	chr11:93474646-93474696	BE2_C	brain:	n/a
26	chr11:93474646-93474696	H1-hESC	embryonic stem cell:	embryo
27	chr11:93474646-93474696	HAEpiC	amniotic membrane:	n/a
28	chr11:93474646-93474696	GM12892	blood:	n/a
29	chr11:93474646-93474696	AG04450	lung:	fetal
30	chr11:93474646-93474696	GM19239	blood:	n/a
31	chr11:93474646-93474696	NH-A	brain:	n/a
32	chr11:93474646-93474696	GM06990	blood:	n/a
33	chr11:93474646-93474696	HL-60	blood:	n/a
34	chr11:93474646-93474696	SK-N-SH	brain:	n/a
35	chr11:93474646-93474696	ProgFib	skin:	n/a
36	chr11:93474646-93474696	ECC-1	luminal epithelium:	n/a
37	chr11:93474646-93474696	Caco-2	colon:	n/a
38	chr11:93474646-93474696	MCF10A-Er-Src	breast:	n/a
39	chr11:93474646-93474696	HIPEpiC	eye:	n/a
40	chr11:93474646-93474696	GM12878	blood:	n/a
41	chr11:93474646-93474696	HCT-116	colon:	n/a
42	chr11:93474646-93474696	NHBE	bronchial:	n/a
43	chr11:93474646-93474696	AoSMC	blood vessel:	n/a
44	chr11:93474646-93474696	AG10803	skin:	n/a
45	chr11:93474646-93474696	SKMC	muscle:	n/a
46	chr11:93474646-93474696	A549	lung:	n/a
47	chr11:93474646-93474696	K562	blood:	n/a
48	chr11:93474646-93474696	AG09319	gingival:	n/a
49	chr11:93474646-93474696	HCPEpiC	choroid plexus:	n/a
50	chr11:93474646-93474696	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93474380..93475062-chr9:88897266..88898042,2	Hela-S3	cervix:
2	chr11:93472800..93476056-chr11:93515203..93522725,16	MCF-7	breast:
3	chr11:93472896..93475000-chr11:93521473..93523956,3	K562	blood:
4	chr11:93474471..93475047-chr21:45719657..45720548,2	Hela-S3	cervix:
5	chr11:93474325..93475060-chr3:53163950..53164468,2	Hela-S3	cervix:
6	chr11:93474211..93474723-chr6:26156278..26157120,2	NB4	blood:
7	chr11:93472782..93475284-chr12:120730109..120732929,2	MCF-7	breast:
8	chr11:93274349..93277500-chr11:93472599..93475364,3	K562	blood:
9	chr11:93474405..93474909-chrX:56589618..56590518,2	Hela-S3	cervix:
10	chr1:86046206..86046941-chr11:93473961..93474726,2	Hela-S3	cervix:
11	chr11:93474197..93474755-chr6:27114263..27115250,2	Hela-S3	cervix:
12	chr11:93473689..93475609-chr11:94224502..94227416,2	K562	blood:
13	chr11:65430462..65431216-chr11:93474282..93474939,2	Hela-S3	cervix:
14	chr11:82867958..82870523-chr11:93473268..93475069,2	K562	blood:
15	chr11:93473849..93474761-chr20:57267926..57268596,2	Hela-S3	cervix:
16	chr1:171750001..171750811-chr11:93474122..93474719,2	NB4	blood:
17	chr11:93474050..93474838-chr15:66796920..66797574,2	Hela-S3	cervix:
18	chr11:93393391..93395168-chr11:93473052..93476024,2	K562	blood:
19	chr11:93471347..93475237-chr11:93486063..93491649,6	K562	blood:
20	chr11:93474174..93474797-chr21:44299276..44300231,2	Hela-S3	cervix:
21	chr11:93472589..93476859-chr11:93528988..93534877,8	K562	blood:
22	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
23	chr11:93474068..93474969-chr14:103523198..103523834,2	Hela-S3	cervix:
24	chr11:93474203..93474838-chr17:73775374..73776015,2	Hela-S3	cervix:
25	chr11:93472413..93474850-chr11:93477709..93480682,4	MCF-7	breast:
26	chr11:93473309..93475727-chr11:93520593..93523450,3	MCF-7	breast:
27	chr11:93474275..93475209-chr14:70233722..70234456,2	Hela-S3	cervix:
28	chr11:93393652..93395603-chr11:93473209..93475607,2	MCF-7	breast:
29	chr11:93474166..93474722-chr19:797099..797918,2	Hela-S3	cervix:
30	chr11:93474194..93474880-chr17:41465994..41466724,2	Hela-S3	cervix:
31	chr11:93474306..93474948-chr19:54704281..54705030,2	Hela-S3	cervix:
32	chr11:93468490..93476714-chr11:93515963..93520210,25	MCF-7	breast:
33	chr11:93474223..93474838-chr7:139025487..139026014,2	Hela-S3	cervix:
34	chr11:93474178..93474921-chr19:49375243..49376221,3	Hela-S3	cervix:
35	chr11:93474235..93474782-chr7:25164031..25164939,2	Hela-S3	cervix:
36	chr11:93474382..93475235-chr14:23235618..23236556,2	NB4	blood:
37	chr11:93474223..93474807-chr15:75493674..75494425,2	Hela-S3	cervix:
38	chr11:93474282..93475110-chr13:111367147..111367893,2	Hela-S3	cervix:
39	chr11:93474170..93474768-chr6:15244861..15245523,2	Hela-S3	cervix:
40	chr11:93474252..93474772-chr6:76458412..76459090,2	Hela-S3	cervix:
41	chr11:93393010..93396864-chr11:93472820..93475395,3	K562	blood:
42	chr11:93473294..93475669-chr11:94705977..94707605,2	MCF-7	breast:
43	chr11:93474059..93474706-chr12:112280241..112280922,2	Hela-S3	cervix:
44	chr11:93474385..93475003-chrX:47003631..47004489,2	Hela-S3	cervix:
45	chr11:93474113..93474761-chr14:20937428..20937932,2	Hela-S3	cervix:
46	chr11:93472363..93476142-chr11:93531511..93536193,5	K562	blood:
47	chr11:93472790..93475144-chr7:30540146..30542802,2	MCF-7	breast:
48	chr11:93474044..93474772-chr20:17549949..17550947,2	Hela-S3	cervix:
49	chr11:93474439..93475045-chr12:49524654..49525322,2	Hela-S3	cervix:
50	chr11:93474220..93474835-chr17:39844723..39845336,2	Hela-S3	cervix:

Variant related genes	Relation type
TAF1D	TF binding region
C11orf54	TF binding region
TAF1D	CpG island
C11orf54	CpG island
ENSG00000087074	Chromatin interaction
ENSG00000198752	Chromatin interaction
ENSG00000160193	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000150316	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000163933	Chromatin interaction
ENSG00000271888	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000135070	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000188021	Chromatin interaction
ENSG00000089022	Chromatin interaction
ENSG00000006625	Chromatin interaction
ENSG00000258458	Chromatin interaction
ENSG00000142871	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000010165	Chromatin interaction
ENSG00000215440	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000172115	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000215301	Chromatin interaction
ENSG00000186280	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000011304	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000155463	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000165494	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000125868	Chromatin interaction
ENSG00000160194	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000168876	Chromatin interaction
ENSG00000145623	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000238437	Chromatin interaction
ENSG00000166004	Chromatin interaction
ENSG00000196586	Chromatin interaction
ENSG00000170889	Chromatin interaction
ENSG00000137776	Chromatin interaction
ENSG00000234608	Chromatin interaction
ENSG00000166002	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000265292	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000164898	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000249740	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000174442	Chromatin interaction
ENSG00000231916	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16919182	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17650369	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93470800-93475800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:93472000-93475800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:93472200-93475200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr11:93472200-93475400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:93472200-93475400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:93472200-93475600	Active TSS	Ovary	ovary
7	chr11:93472200-93475800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:93472200-93475800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:93472200-93475800	Active TSS	Fetal Intestine Small	intestine
10	chr11:93472400-93475400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:93472600-93475400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:93472600-93475600	Active TSS	Duodenum Mucosa	Duodenum
13	chr11:93472600-93475800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:93472600-93475800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:93472600-93475800	Active TSS	GM12878-XiMat	blood
16	chr11:93472600-93476000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:93472800-93475800	Active TSS	NH-A	brain
18	chr11:93472800-93476000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:93473000-93475400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:93473000-93475600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:93473000-93475600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:93473000-93475600	Active TSS	HMEC	breast
23	chr11:93473000-93475800	Active TSS	Hela-S3	cervix
24	chr11:93473000-93476000	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr11:93473000-93476200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:93473000-93476200	Active TSS	Fetal Kidney	kidney
27	chr11:93473200-93475200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:93473200-93475200	Active TSS	Placenta Amnion	Placenta Amnion
29	chr11:93473200-93475400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:93473200-93475400	Active TSS	Gastric	stomach
31	chr11:93473200-93475600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:93473200-93475600	Active TSS	HUVEC	blood vessel
33	chr11:93473400-93475200	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr11:93473400-93475200	Bivalent/Poised TSS	HepG2	liver
35	chr11:93473400-93475400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:93473400-93475400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:93473400-93475400	Active TSS	Esophagus	oesophagus
38	chr11:93473400-93475400	Active TSS	Fetal Heart	heart
39	chr11:93473400-93475400	Active TSS	Stomach Mucosa	stomach
40	chr11:93473400-93475600	Active TSS	Brain Angular Gyrus	brain
41	chr11:93473400-93475600	Active TSS	Fetal Intestine Large	intestine
42	chr11:93473400-93475600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:93473400-93475600	Active TSS	NHDF-Ad	bronchial
44	chr11:93473400-93475800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:93473400-93475800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:93473400-93475800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:93473400-93475800	Active TSS	Aorta	Aorta
48	chr11:93473400-93475800	Active TSS	Liver	Liver
49	chr11:93473400-93475800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:93473400-93475800	Active TSS	Right Ventricle	heart

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