Variant report

Variant	rs535477487
Chromosome Location	chr11:67188994-67188995
allele	C/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	TBP	chr11:67188762-67189009	GM12878	blood:	n/a	n/a
2	MAFK	chr11:67188450-67188997	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:67188367-67189104	HCT-116	colon:	n/a	n/a
4	CTCF	chr11:67188940-67189090	HMEC	breast:	n/a	n/a
5	POLR2A	chr11:67188226-67189047	K562	blood:	n/a	n/a
6	POLR2A	chr11:67188127-67189019	GM18951	blood:	n/a	n/a
7	POLR2A	chr11:67188079-67189037	GM15510	blood:	n/a	n/a
8	RFX5	chr11:67188562-67189146	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:67188179-67189102	MCF10A-Er-Src	breast:	n/a	n/a
10	MAZ	chr11:67187838-67189126	IMR90	lung:	n/a	n/a
11	SP1	chr11:67188451-67189163	A549	lung:	n/a	chr11:67188817-67188827 chr11:67188740-67188751 chr11:67188818-67188827 chr11:67188786-67188795 chr11:67188753-67188765 chr11:67188784-67188795 chr11:67188755-67188764 chr11:67188753-67188765 chr11:67188753-67188764 chr11:67188754-67188763 chr11:67188750-67188763 chr11:67188737-67188751 chr11:67188755-67188764 chr11:67188772-67188779 chr11:67188702-67188713
12	TCF7L2	chr11:67188821-67189256	Hela-S3	cervix:	n/a	chr11:67189059-67189073
13	IRF1	chr11:67188464-67188997	K562	blood:	n/a	chr11:67188753-67188767 chr11:67188784-67188798 chr11:67188740-67188754
14	CHD2	chr11:67188418-67189043	Hela-S3	cervix:	n/a	n/a
15	HEY1	chr11:67188380-67189041	K562	blood:	n/a	chr11:67188812-67188827
16	ZKSCAN1	chr11:67188097-67188995	Hela-S3	cervix:	n/a	n/a
17	MXI1	chr11:67187726-67189337	SK-N-SH	brain:	n/a	n/a
18	MAX	chr11:67187884-67189089	HepG2	liver:	n/a	n/a
19	CTCF	chr11:67188980-67189130	NHEK	skin:	n/a	n/a
20	RAD21	chr11:67188940-67189289	Hela-S3	cervix:	n/a	n/a
21	SIN3A	chr11:67188046-67189135	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:67187992-67189070	K562	blood:	n/a	n/a
23	MXI1	chr11:67188019-67189023	Hela-S3	cervix:	n/a	n/a
24	MAZ	chr11:67188065-67189139	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:67187899-67189007	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:67188179-67189050	ProgFib	skin:	n/a	n/a
27	NR2F2	chr11:67188558-67189023	K562	blood:	n/a	n/a
28	RAD21	chr11:67188063-67189293	H1-hESC	embryonic stem cell:	n/a	chr11:67188351-67188365
29	TCF7L2	chr11:67188249-67189264	HCT-116	colon:	n/a	chr11:67189059-67189073
30	POLR2A	chr11:67188371-67189018	MCF-7	breast:	n/a	n/a
31	HCFC1	chr11:67187834-67189352	Hela-S3	cervix:	n/a	n/a
32	ZNF143	chr11:67188857-67189061	H1-hESC	embryonic stem cell:	n/a	chr11:67188870-67188880
33	POLR2A	chr11:67188111-67189040	GM18526	blood:	n/a	n/a
34	POLR2A	chr11:67188402-67189132	PANC-1	pancreas:	n/a	n/a
35	MXI1	chr11:67187768-67189325	IMR90	lung:	n/a	n/a
36	RAD21	chr11:67188788-67189406	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:67188334-67189156	HEK293	kidney:	n/a	n/a
38	RAD21	chr11:67188946-67189241	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:67188770-67189007	HepG2	liver:	n/a	n/a
40	RCOR1	chr11:67188415-67189088	Hela-S3	cervix:	n/a	n/a
41	SP1	chr11:67188423-67189081	H1-hESC	embryonic stem cell:	n/a	chr11:67188784-67188795 chr11:67188753-67188764 chr11:67188740-67188751 chr11:67188755-67188764 chr11:67188702-67188713 chr11:67188753-67188765 chr11:67188817-67188827 chr11:67188737-67188751 chr11:67188772-67188779 chr11:67188753-67188765 chr11:67188818-67188827 chr11:67188755-67188764 chr11:67188754-67188763 chr11:67188750-67188763 chr11:67188786-67188795
42	HMGN3	chr11:67187775-67189010	K562	blood:	n/a	n/a
43	POLR2A	chr11:67188065-67189168	Hela-S3	cervix:	n/a	n/a
44	TBP	chr11:67188382-67189148	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:67188771-67189038	HepG2	liver:	n/a	n/a
46	RCOR1	chr11:67187823-67189285	IMR90	lung:	n/a	n/a
47	POLR2A	chr11:67188302-67189079	K562	blood:	n/a	n/a
48	POLR2A	chr11:67187950-67189092	ECC-1	luminal epithelium:	n/a	n/a
49	JUND	chr11:67188255-67188998	A549	lung:	n/a	n/a
50	RAD21	chr11:67188980-67189171	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67117328..67119147-chr11:67188918..67191824,2	K562	blood:
2	chr11:67187290..67189722-chr11:67250373..67251986,2	K562	blood:
3	chr11:67186666..67191064-chr11:67273296..67275634,4	K562	blood:
4	chr11:67168977..67169771-chr11:67188130..67189217,5	K562	blood:
5	chr11:67188329..67190078-chr11:67395497..67397471,2	K562	blood:
6	chr11:67140365..67142235-chr11:67187974..67189991,2	K562	blood:
7	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
8	chr11:67187544..67192614-chr11:67201349..67205044,6	K562	blood:
9	chr11:67186666..67189529-chr11:67272076..67275550,4	K562	blood:
10	chr11:67185549..67189385-chr11:67208691..67212904,6	K562	blood:
11	chr11:67187592..67190127-chr11:67230614..67234165,3	K562	blood:
12	chr11:67119033..67122416-chr11:67186034..67189246,4	K562	blood:
13	chr11:67187671..67190437-chr11:67260669..67262502,2	MCF-7	breast:
14	chr11:67123845..67125865-chr11:67186294..67189193,2	K562	blood:

Variant related genes	Relation type
PPP1CA	TF binding region
ENSG00000167797	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
9	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
14	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers 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	148 gene(s)	inside rSNPs	diseases
15	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
16	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
17	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
18	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
19	nsv897812	chr11:67174597-67198887	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
20	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
21	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
22	nsv555255	chr11:67177797-67191449	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	esv1847460	chr11:67182600-67219337	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
24	nsv524096	chr11:67186000-67224988	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
25	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
26	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
27	esv1811233	chr11:67186271-67193108	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
28	esv3403555	chr11:67187476-67189674	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67186400-67189200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr11:67187600-67189000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:67187600-67189000	Enhancers	Fetal Brain Male	brain
4	chr11:67187600-67189200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:67187600-67189200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:67187600-67189200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr11:67187800-67189000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:67187800-67189200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:67187800-67189200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:67188000-67189000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:67188000-67189000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr11:67188000-67189000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr11:67188000-67189000	Active TSS	Esophagus	oesophagus
14	chr11:67188000-67189000	Active TSS	Fetal Brain Female	brain
15	chr11:67188000-67189000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:67188000-67189000	Active TSS	Ovary	ovary
17	chr11:67188000-67189000	Active TSS	Rectal Smooth Muscle	rectum
18	chr11:67188000-67189000	Active TSS	Hela-S3	cervix
19	chr11:67188000-67189000	Active TSS	NHDF-Ad	bronchial
20	chr11:67188000-67189200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:67188000-67189200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:67188000-67189200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:67188000-67189200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr11:67188000-67189200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr11:67188000-67189200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:67188000-67189200	Active TSS	Brain Substantia Nigra	brain
27	chr11:67188000-67189200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:67188000-67189200	Flanking Active TSS	HMEC	breast
29	chr11:67188000-67195200	Weak transcription	Fetal Lung	lung
30	chr11:67188200-67189000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:67188200-67189000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:67188200-67189000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:67188200-67189000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:67188200-67189000	Active TSS	Primary T cells from cord blood	blood
35	chr11:67188200-67189000	Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:67188200-67189000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:67188200-67189000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:67188200-67189000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:67188200-67189000	Active TSS	Brain Anterior Caudate	brain
40	chr11:67188200-67189000	Weak transcription	Fetal Heart	heart
41	chr11:67188200-67189000	Active TSS	HSMM	muscle
42	chr11:67188200-67189000	Active TSS	HUVEC	blood vessel
43	chr11:67188200-67189000	Active TSS	NH-A	brain
44	chr11:67188200-67189200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr11:67188200-67189200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:67188200-67189200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr11:67188200-67189200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:67188200-67189200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:67188200-67189200	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:67188200-67189200	Active TSS	Brain Germinal Matrix	brain

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