Variant report

Variant	esv1849974
Chromosome Location	chr2:189796272-189837995
allele	n/a
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	ATF1	chr2:189807452-189807586	K562	blood:	n/a	n/a
2	CCNT2	chr2:189814185-189814456	K562	blood:	n/a	n/a
3	CEBPB	chr2:189837555-189837665	K562	blood:	n/a	n/a
4	CEBPB	chr2:189810547-189810723	A549	lung:	n/a	chr2:189810636-189810647
5	CEBPB	chr2:189822393-189822712	A549	lung:	n/a	chr2:189822561-189822572
6	CEBPB	chr2:189834976-189835579	IMR90	lung:	n/a	chr2:189835050-189835063
7	CEBPB	chr2:189802116-189802333	HepG2	liver:	n/a	chr2:189802178-189802189
8	CEBPB	chr2:189817691-189817963	IMR90	lung:	n/a	n/a
9	CEBPB	chr2:189810524-189810725	IMR90	lung:	n/a	chr2:189810636-189810647
10	CEBPB	chr2:189822399-189822740	HepG2	liver:	n/a	chr2:189822561-189822572
11	CEBPB	chr2:189837469-189837706	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr2:189827410-189827675	HepG2	liver:	n/a	chr2:189827520-189827531
13	CEBPB	chr2:189822384-189822731	IMR90	lung:	n/a	chr2:189822561-189822572
14	CEBPB	chr2:189834071-189834731	IMR90	lung:	n/a	n/a
15	CEBPB	chr2:189801990-189802401	IMR90	lung:	n/a	chr2:189802178-189802189
16	CEBPB	chr2:189810513-189810759	HepG2	liver:	n/a	chr2:189810636-189810647
17	CTCF	chr2:189801960-189802110	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr2:189802120-189802270	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr2:189812121-189812144	Lung_OC	lung:	n/a	n/a
20	CTCF	chr2:189801940-189802090	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr2:189814600-189814750	GM12873	blood:	n/a	n/a
22	CTCF	chr2:189814620-189814770	GM12868	blood:	n/a	n/a
23	CTCF	chr2:189808636-189808662	Lung_OC	lung:	n/a	n/a
24	CTCF	chr2:189814730-189814779	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F4	chr2:189798154-189798354	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr2:189833978-189834379	SK-N-SH_RA	brain:	n/a	chr2:189834165-189834174
27	EP300	chr2:189836295-189836685	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr2:189833987-189834366	SK-N-SH_RA	brain:	n/a	chr2:189834165-189834174
29	EP300	chr2:189833896-189834476	SK-N-SH	brain:	n/a	chr2:189834165-189834174
30	EP300	chr2:189833786-189834628	SK-N-SH	brain:	n/a	chr2:189834165-189834174
31	EP300	chr2:189836124-189836700	SK-N-SH	brain:	n/a	n/a
32	EP300	chr2:189836296-189836688	SK-N-SH_RA	brain:	n/a	n/a
33	FOS	chr2:189802060-189802335	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr2:189796237-189796313	MCF10A-Er-Src	breast:	n/a	chr2:189796293-189796304
35	FOS	chr2:189822391-189822701	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr2:189822504-189822704	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr2:189822400-189822707	MCF10A-Er-Src	breast:	n/a	n/a
38	FOSL2	chr2:189833898-189834531	SK-N-SH	brain:	n/a	chr2:189834164-189834174 chr2:189834165-189834172 chr2:189834303-189834313 chr2:189834164-189834174 chr2:189834165-189834173 chr2:189834163-189834175 chr2:189834164-189834174 chr2:189834165-189834173 chr2:189834164-189834174
39	FOSL2	chr2:189833837-189834414	A549	lung:	n/a	chr2:189834164-189834174 chr2:189834165-189834172 chr2:189834303-189834313 chr2:189834164-189834174 chr2:189834165-189834173 chr2:189834163-189834175 chr2:189834164-189834174 chr2:189834165-189834173 chr2:189834164-189834174
40	FOSL2	chr2:189833925-189834379	SK-N-SH	brain:	n/a	chr2:189834164-189834174 chr2:189834165-189834172 chr2:189834303-189834313 chr2:189834164-189834174 chr2:189834165-189834173 chr2:189834163-189834175 chr2:189834164-189834174 chr2:189834165-189834173 chr2:189834164-189834174
41	GATA3	chr2:189836332-189836438	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr2:189833680-189834659	SK-N-SH	brain:	n/a	chr2:189834085-189834096
43	GATA3	chr2:189836136-189836734	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr2:189833843-189834571	SK-N-SH	brain:	n/a	chr2:189834085-189834096
45	GATA3	chr2:189836028-189836866	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr2:189834820-189835361	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr2:189837699-189839505	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr2:189837736-189839665	SK-N-SH	brain:	n/a	chr2:189839506-189839513 chr2:189839506-189839513 chr2:189839506-189839513
49	JUN	chr2:189806011-189806133	K562	blood:	n/a	n/a
50	JUND	chr2:189837192-189837497	HepG2	liver:	n/a	chr2:189837358-189837367

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:189837928-189837978	AG09309	skin:	n/a
2	chr2:189837928-189837978	IMR90	lung:	fetal
3	chr2:189834269-189834319	AG09309	skin:	n/a
4	chr2:189834269-189834319	HRPEpiC	eye:	n/a
5	chr2:189837928-189837978	GM12891	blood:	n/a
6	chr2:189837928-189837978	PANC-1	pancreas:	n/a
7	chr2:189837928-189837978	HNPCEpiC	eye:	n/a
8	chr2:189837928-189837978	Jurkat	blood:	n/a
9	chr2:189834269-189834319	NHBE	bronchial:	n/a
10	chr2:189837928-189837978	ECC-1	luminal epithelium:	n/a
11	chr2:189837928-189837978	K562	blood:	n/a
12	chr2:189837928-189837978	ProgFib	skin:	n/a
13	chr2:189834269-189834319	HCPEpiC	choroid plexus:	n/a
14	chr2:189837928-189837978	SK-N-MC	brain:	n/a
15	chr2:189834269-189834319	SK-N-SH_RA	brain:	n/a
16	chr2:189834269-189834319	AG10803	skin:	n/a
17	chr2:189837928-189837978	SKMC	muscle:	n/a
18	chr2:189837928-189837978	HepG2	liver:	n/a
19	chr2:189834269-189834319	U87	brain:	n/a
20	chr2:189834269-189834319	HCM	heart:	n/a
21	chr2:189837928-189837978	HL-60	blood:	n/a
22	chr2:189834269-189834319	Hepatocyte	liver:	n/a
23	chr2:189837928-189837978	A549	lung:	n/a
24	chr2:189837928-189837978	GM12878	blood:	n/a
25	chr2:189834269-189834319	HEK293	kidney:	embryo
26	chr2:189837928-189837978	U87	brain:	n/a
27	chr2:189834269-189834319	SK-N-MC	brain:	n/a
28	chr2:189834269-189834319	HRE	kidney:	n/a
29	chr2:189837928-189837978	HCM	heart:	n/a
30	chr2:189837928-189837978	NB4	blood:	n/a
31	chr2:189834269-189834319	GM19239	blood:	n/a
32	chr2:189837928-189837978	SK-N-SH_RA	brain:	n/a
33	chr2:189834269-189834319	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:189834269-189834319	HEEpiC	esophagus:	n/a
35	chr2:189837928-189837978	NHDF-neo	bronchial:	n/a
36	chr2:189834269-189834319	HAEpiC	amniotic membrane:	n/a
37	chr2:189837928-189837978	H1-hESC	embryonic stem cell:	embryo
38	chr2:189834269-189834319	ovcar-3	ovarian:	n/a
39	chr2:189834269-189834319	GM12892	blood:	n/a
40	chr2:189834269-189834319	BJ	skin:	n/a
41	chr2:189834269-189834319	NT2-D1	testis:	n/a
42	chr2:189837928-189837978	HRE	kidney:	n/a
43	chr2:189837928-189837978	GM19239	blood:	n/a
44	chr2:189834269-189834319	SK-N-SH	brain:	n/a
45	chr2:189837928-189837978	NHBE	bronchial:	n/a
46	chr2:189834269-189834319	LNCaP	prostate:	n/a
47	chr2:189834269-189834319	NH-A	brain:	n/a
48	chr2:189837928-189837978	Caco-2	colon:	n/a
49	chr2:189834269-189834319	T-47D	breast:	n/a
50	chr2:189834269-189834319	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189822907..189823896-chr8:96619389..96620128,2	MCF-7	breast:
2	chr2:189652355..189655667-chr2:189836980..189839231,3	MCF-7	breast:

Variant related genes	Relation type
MIR1245A	TF binding region
COL3A1	TF binding region
MIR1245A	CpG island
COL3A1	CpG island
ENSG00000174325	chromatin interactions

Extended variants
information (count: 1453 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1453 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16830840	chr2:189796272-189796273	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559365055	chr2:189796377-189796378	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529717470	chr2:189796388-189796389	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4614862	chr2:189796410-189796411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369427726	chr2:189796413-189796414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373235523	chr2:189796441-189796442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191434664	chr2:189796505-189796506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552118046	chr2:189796525-189796526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570638807	chr2:189796530-189796531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138674167	chr2:189796531-189796532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547486927	chr2:189796542-189796543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10931388	chr2:189796577-189796578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145463709	chr2:189796612-189796613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554839964	chr2:189796620-189796621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576692048	chr2:189796632-189796633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537636852	chr2:189796761-189796762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369951460	chr2:189796769-189796770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577391258	chr2:189796799-189796800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148354114	chr2:189796805-189796806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564577569	chr2:189796808-189796809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140437063	chr2:189796821-189796822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78952896	chr2:189796828-189796829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76639434	chr2:189796829-189796830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61106321	chr2:189796831-189796832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541081985	chr2:189796904-189796905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4308073	chr2:189796924-189796925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574477135	chr2:189796931-189796932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546923440	chr2:189796990-189796991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571624552	chr2:189797062-189797063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538829974	chr2:189797163-189797164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183217747	chr2:189797229-189797230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533413118	chr2:189797256-189797257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530679176	chr2:189797273-189797274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546097862	chr2:189797379-189797380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564077194	chr2:189797465-189797466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528277556	chr2:189797473-189797474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547476472	chr2:189797498-189797499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565880940	chr2:189797564-189797565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557536252	chr2:189797599-189797600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376913680	chr2:189797600-189797601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16830842	chr2:189797627-189797628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548326678	chr2:189797637-189797638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566701115	chr2:189797650-189797651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537193289	chr2:189797657-189797658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555067958	chr2:189797695-189797696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187127869	chr2:189797698-189797699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573711381	chr2:189797716-189797717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535276679	chr2:189797790-189797791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35835997	chr2:189797806-189797807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35489288	chr2:189797813-189797814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189794400-189802000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:189795600-189796600	Enhancers	NHDF-Ad	bronchial
3	chr2:189795800-189796400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:189795800-189796400	Enhancers	Osteobl	bone
5	chr2:189796200-189796600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:189796400-189796600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:189796400-189801600	Weak transcription	Osteobl	bone
8	chr2:189796600-189801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:189796600-189801600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:189796600-189802000	Weak transcription	NHDF-Ad	bronchial
11	chr2:189799400-189802400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:189801400-189802400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:189801600-189802200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:189801600-189802400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:189801600-189802400	Enhancers	Osteobl	bone
16	chr2:189802000-189802200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:189802000-189802400	Enhancers	Adipose Nuclei	Adipose
18	chr2:189802000-189802800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:189802000-189803000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:189802000-189803200	Enhancers	Colon Smooth Muscle	Colon
21	chr2:189802000-189803200	Enhancers	NHDF-Ad	bronchial
22	chr2:189802200-189802800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:189802200-189803200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:189802200-189805000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:189802400-189803200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr2:189802400-189803200	Enhancers	Aorta	Aorta
27	chr2:189802400-189803200	Flanking Active TSS	Osteobl	bone
28	chr2:189802400-189803400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:189802400-189803400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:189802400-189803800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:189802600-189803200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:189802800-189803200	Enhancers	Right Atrium	heart
33	chr2:189802800-189805000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:189803000-189805000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:189803200-189804800	Weak transcription	Adipose Nuclei	Adipose
36	chr2:189803200-189804800	Weak transcription	NHDF-Ad	bronchial
37	chr2:189803200-189805200	Enhancers	Osteobl	bone
38	chr2:189803200-189805600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:189803200-189807200	Weak transcription	Aorta	Aorta
40	chr2:189803400-189804200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:189803400-189804800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:189803800-189804400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:189804200-189804600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:189804400-189805200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:189804600-189804800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:189804800-189805200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:189804800-189805200	Enhancers	Adipose Nuclei	Adipose
48	chr2:189804800-189805200	Active TSS	Fetal Lung	lung
49	chr2:189804800-189805200	Flanking Active TSS	NHDF-Ad	bronchial
50	chr2:189804800-189805400	Enhancers	HUVEC	blood vessel

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