Variant report

Variant	esv1799839
Chromosome Location	chr10:6655137-6664016
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	ATF3	chr10:6663485-6663746	K562	blood:	n/a	n/a
2	CEBPB	chr10:6657447-6657691	HepG2	liver:	n/a	n/a
3	FOS	chr10:6663485-6663813	MCF10A-Er-Src	breast:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663648-6663656
4	FOS	chr10:6663471-6663830	MCF10A-Er-Src	breast:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663648-6663656
5	FOS	chr10:6661783-6661874	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr10:6663485-6663807	MCF10A-Er-Src	breast:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663648-6663656
7	FOS	chr10:6663466-6663829	MCF10A-Er-Src	breast:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663648-6663656
8	FOSL2	chr10:6663419-6663739	SK-N-SH	brain:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663648-6663656
9	FOSL2	chr10:6661614-6661969	HepG2	liver:	n/a	n/a
10	GATA3	chr10:6663444-6663521	SH-SY5Y	brain:	n/a	chr10:6663459-6663466 chr10:6663508-6663517 chr10:6663504-6663520 chr10:6663508-6663515 chr10:6663504-6663520 chr10:6663459-6663466 chr10:6663459-6663466 chr10:6663508-6663515 chr10:6663507-6663517 chr10:6663508-6663515 chr10:6663452-6663473
11	JUN	chr10:6663612-6663814	HepG2	liver:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663648-6663656
12	JUN	chr10:6663503-6663800	H1-hESC	embryonic stem cell:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663648-6663656
13	JUND	chr10:6663491-6663795	Hela-S3	cervix:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663646-6663657 chr10:6663648-6663656
14	JUND	chr10:6663460-6663825	H1-hESC	embryonic stem cell:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663646-6663657 chr10:6663648-6663656
15	JUND	chr10:6663493-6663843	HepG2	liver:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663646-6663657 chr10:6663648-6663656
16	JUND	chr10:6663404-6664010	SK-N-SH	brain:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663646-6663657 chr10:6663648-6663656
17	JUND	chr10:6663504-6663807	K562	blood:	n/a	chr10:6663647-6663657 chr10:6663647-6663656 chr10:6663649-6663656 chr10:6663648-6663657 chr10:6663646-6663657 chr10:6663648-6663656
18	KAP1	chr10:6663335-6664022	HEK293	kidney:	n/a	chr10:6663649-6663658
19	KAP1	chr10:6663095-6663993	U2OS	brain:	n/a	chr10:6663649-6663658
20	MAFF	chr10:6657616-6657628	HepG2	liver:	n/a	n/a
21	MAFK	chr10:6657451-6657756	HepG2	liver:	n/a	n/a
22	MAFK	chr10:6657422-6657626	HepG2	liver:	n/a	n/a
23	POLR2A	chr10:6656347-6656418	K562	blood:	n/a	n/a
24	POLR2A	chr10:6663804-6664003	K562	blood:	n/a	n/a
25	POLR2A	chr10:6656339-6656382	H1-hESC	embryonic stem cell:	n/a	n/a
26	RCOR1	chr10:6663553-6663753	K562	blood:	n/a	n/a
27	STAT3	chr10:6657958-6658170	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr10:6663564-6663714	MCF10A-Er-Src	breast:	n/a	chr10:6663647-6663656 chr10:6663648-6663657

No.	Distal block	Cell Line	Cell type
1	chr10:6622287..6623956-chr10:6655441..6657087,2	K562	blood:
2	chr10:6657794..6661242-chr10:6661759..6664532,3	K562	blood:
3	chr10:6614415..6616986-chr10:6653036..6655207,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL137145.1-2	chr10:6657388-6657599	XLOC_008370
2	lnc-AL137145.1-3	chr10:6663672-6663911	XLOC_008371
3	lnc-AL137145.1-2	chr10:6657725-6657912	ENSG00000237943.2
4	lnc-AL137145.1-2	chr10:6657481-6657599	ENSG00000237943.2
5	lnc-AL137145.1-2	chr10:6657693-6658742	NONHSAT011239
6	lnc-AL137145.1-3	chr10:6663672-6663911	XLOC_008371
7	lnc-AL137145.1-3	chr10:6662976-6663135	XLOC_008371
8	lnc-AL137145.1-2	chr10:6657968-6658359	ENSG00000237943.2
9	lnc-AL137145.1-2	chr10:6657725-6657921	ENSG00000237943.2
10	lnc-AL137145.1-2	chr10:6657332-6657599	ENSG00000237943.2
11	lnc-AL137145.1-2	chr10:6657190-6657643	NONHSAT011239
12	lnc-AL137145.1-3	chr10:6660678-6660738	XLOC_008371
13	lnc-AL137145.1-3	chr10:6662880-6663135	XLOC_008371
14	lnc-AL137145.1-2	chr10:6657332-6657409	XLOC_008370
15	lnc-AL137145.1-2	chr10:6655593-6655651	ENSG00000237943.2
16	lnc-AL137145.1-2	chr10:6657725-6657810	XLOC_008370
17	lnc-AL137145.1-3	chr10:6660597-6660738	XLOC_008371
18	lnc-AL137145.1-2	chr10:6657693-6657797	FPKM1_group_2866_transcript_7
19	lnc-AL137145.1-2	chr10:6657725-6657886	XLOC_008370
20	lnc-AL137145.1-2	chr10:6657968-6658414	ENSG00000237943.2
21	lnc-AL137145.1-2	chr10:6657725-6657886	ENSG00000237943.2
22	lnc-AL137145.1-3	chr10:6663672-6663824	ENSG00000225948.2
23	lnc-AL137145.1-3	chr10:6662880-6663135	ENSG00000225948.2
24	lnc-AL137145.1-2	chr10:6657190-6657643	FPKM1_group_2866_transcript_7
25	lnc-AL137145.1-2	chr10:6657968-6658273	XLOC_008370
26	lnc-AL137145.1-2	chr10:6657725-6657886	ENSG00000237943.2
27	lnc-AL137145.1-3	chr10:6663672-6663824	XLOC_008371
28	lnc-AL137145.1-3	chr10:6662881-6663135	XLOC_008371
29	lnc-AL137145.1-3	chr10:6660678-6660738	ENSG00000225948.2
30	lnc-AL137145.1-3	chr10:6662507-6662895	ucscGeneNc_uc001ijl_2

Variant related genes	Relation type
ENSG00000225948	TF binding region
ENSG00000225948	chromatin interactions
ENSG00000237943	chromatin interactions
TOMM70A	miRNA target sites
DDX6	miRNA target sites
EPHA4	miRNA target sites
RNF145	miRNA target sites

Extended variants
information (count: 383 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543533071	chr10:6655165-6655166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12783519	chr10:6655173-6655174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113502539	chr10:6655253-6655254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186188921	chr10:6655269-6655270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577184083	chr10:6655278-6655279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12267025	chr10:6655293-6655294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs57477141	chr10:6655302-6655303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1409875	chr10:6655306-6655307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557733263	chr10:6655330-6655331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149967298	chr10:6655339-6655340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7907836	chr10:6655350-6655351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561780830	chr10:6655376-6655377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147643233	chr10:6655390-6655391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544396511	chr10:6655431-6655432	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs542051430	chr10:6655488-6655489	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527593607	chr10:6655490-6655491	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562575577	chr10:6655530-6655531	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74868109	chr10:6655549-6655550	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114659563	chr10:6655554-6655555	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142119007	chr10:6655584-6655585	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191055929	chr10:6655585-6655586	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546664040	chr10:6655607-6655608	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs568197160	chr10:6655634-6655635	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs75574604	chr10:6655662-6655663	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551146812	chr10:6655713-6655714	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113807250	chr10:6655723-6655724	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183219337	chr10:6655732-6655733	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2023400	chr10:6655733-6655734	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566442236	chr10:6655783-6655784	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7919398	chr10:6655841-6655842	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571277147	chr10:6655848-6655849	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555430739	chr10:6655857-6655858	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532012308	chr10:6655862-6655863	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs116603680	chr10:6655885-6655886	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114056842	chr10:6655886-6655887	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs147684277	chr10:6655932-6655933	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4748205	chr10:6655944-6655945	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201371175	chr10:6655986-6655987	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73606249	chr10:6655988-6655989	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560029716	chr10:6656007-6656008	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527611226	chr10:6656015-6656016	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534246651	chr10:6656016-6656017	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4748206	chr10:6656079-6656080	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs17138780	chr10:6656100-6656101	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529345529	chr10:6656128-6656129	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143226266	chr10:6656183-6656184	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569394549	chr10:6656193-6656194	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148311228	chr10:6656206-6656207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552022508	chr10:6656228-6656229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs5782920	chr10:6656341-6656342	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6651000-6656400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:6651200-6661600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr10:6651800-6655400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:6651800-6663200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:6652200-6655200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:6652200-6655200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr10:6652400-6655200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:6652400-6655400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr10:6652400-6655400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr10:6654000-6655200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:6654600-6660200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:6654800-6655600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr10:6654800-6663600	Weak transcription	Primary T cells from cord blood	blood
14	chr10:6654800-6665600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr10:6655000-6663000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:6655000-6677600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr10:6655200-6657400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:6655200-6663000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:6655400-6656200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:6655400-6663000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr10:6655400-6667400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:6655600-6656000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
23	chr10:6656000-6663000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr10:6656200-6656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:6656600-6658200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr10:6658200-6659400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:6658800-6674200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr10:6659400-6660000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:6660000-6677400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr10:6660200-6660600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr10:6660200-6660600	Enhancers	Pancreas	Pancrea
32	chr10:6660400-6660600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr10:6660600-6661800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:6660600-6666000	Weak transcription	Pancreas	Pancrea
35	chr10:6661200-6684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:6661600-6662000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr10:6661600-6662200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr10:6661600-6667400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr10:6661800-6662400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr10:6662000-6663600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:6662200-6663200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr10:6662400-6663600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr10:6662400-6665800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr10:6663000-6664000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr10:6663000-6664400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:6663000-6664600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:6663000-6665400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr10:6663200-6663800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr10:6663200-6664000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr10:6663200-6665600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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