Variant report

Variant	rs1659458
Chromosome Location	chr7:149470055-149470056
allele	C/G
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	HDAC2	chr7:149470039-149470472	K562	blood:	n/a	n/a
2	YY1	chr7:149470054-149470410	K562	blood:	n/a	chr7:149470156-149470170 chr7:149470159-149470173
3	ZEB1	chr7:149470053-149470279	GM12878	blood:	n/a	n/a
4	THAP1	chr7:149470043-149470471	K562	blood:	n/a	n/a
5	YY1	chr7:149470033-149470521	K562	blood:	n/a	chr7:149470156-149470170 chr7:149470159-149470173
6	POLR2A	chr7:149470041-149471169	K562	blood:	n/a	n/a
7	ZBTB7A	chr7:149469944-149471323	K562	blood:	n/a	n/a
8	TAF1	chr7:149470030-149470525	ECC-1	luminal epithelium:	n/a	n/a
9	ZBTB7A	chr7:149468795-149470727	ECC-1	luminal epithelium:	n/a	chr7:149469629-149469638
10	ZBTB7A	chr7:149469935-149470593	K562	blood:	n/a	n/a
11	SIN3A	chr7:149468225-149470580	H1-hESC	embryonic stem cell:	n/a	chr7:149469495-149469504
12	MAZ	chr7:149467973-149472216	K562	blood:	n/a	chr7:149469385-149469395 chr7:149471984-149471994 chr7:149470414-149470424 chr7:149469471-149469481 chr7:149470453-149470463
13	ZBTB7A	chr7:149469353-149471361	ECC-1	luminal epithelium:	n/a	chr7:149469629-149469638
14	POLR2A	chr7:149470053-149470177	A549	lung:	n/a	n/a
15	MAX	chr7:149470044-149470470	K562	blood:	n/a	chr7:149470414-149470424 chr7:149470453-149470463
16	MAX	chr7:149470054-149470613	ECC-1	luminal epithelium:	n/a	chr7:149470414-149470424 chr7:149470453-149470463
17	UBTF	chr7:149470001-149470552	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:149158020..149159528-chr7:149468647..149470369,2	K562	blood:
2	chr7:149425054..149427794-chr7:149470002..149471582,2	MCF-7	breast:
3	chr7:149470006..149471576-chr7:149569800..149572611,2	MCF-7	breast:
4	chr7:149468811..149471165-chr7:149492241..149495834,3	K562	blood:
5	chr7:149468652..149471157-chr7:150776207..150778297,2	MCF-7	breast:
6	chr7:149469665..149471242-chr7:149492952..149494694,2	K562	blood:
7	chr7:149468983..149471079-chr7:149493148..149495214,3	MCF-7	breast:
8	chr7:149469487..149472454-chr7:149520687..149524368,4	MCF-7	breast:
9	chr7:149467684..149471867-chr7:149482733..149487472,6	K562	blood:
10	chr7:149466134..149470595-chr7:149532425..149537706,5	MCF-7	breast:

Variant related genes	Relation type
SSPO	TF binding region
ENSG00000197558	Chromatin interaction
ENSG00000204934	Chromatin interaction
ENSG00000133619	Chromatin interaction
ENSG00000171130	Chromatin interaction
ENSG00000196453	Chromatin interaction
ENSG00000164896	Chromatin interaction
ENSG00000106479	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1635798	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking 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 target site	40 gene(s)	inside rSNPs	diseases
5	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv831184	chr7:149424835-149600093	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2758139	chr7:149441590-149956415	Strong transcription Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	esv2759571	chr7:149441590-149956415	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv465200	chr7:149445585-149483373	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv608980	chr7:149445585-149483373	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv608981	chr7:149446246-149513152	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv608982	chr7:149450584-149483373	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv465201	chr7:149450584-149485059	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv608983	chr7:149450584-149485059	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv465202	chr7:149450584-149499412	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv608984	chr7:149450584-149499412	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv465203	chr7:149456359-149483373	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv608985	chr7:149456359-149483373	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv889403	chr7:149456359-149509981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv517242	chr7:149456359-149536214	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	nsv465204	chr7:149458128-149485059	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
24	nsv608986	chr7:149458128-149485059	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv889404	chr7:149458623-149500992	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv889405	chr7:149458623-149500992	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	nsv889406	chr7:149458623-149522366	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
28	nsv889407	chr7:149458623-149536214	Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
29	nsv889408	chr7:149458623-149539138	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv521861	chr7:149458623-149582906	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
31	nsv889409	chr7:149458623-149585379	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
32	esv1820919	chr7:149459787-149532882	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
33	nsv889410	chr7:149460447-149500992	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
34	esv1816660	chr7:149462712-149529460	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
35	nsv889411	chr7:149465674-149539138	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
36	nsv970603	chr7:149466120-149478339	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
37	esv1791871	chr7:149466725-149516442	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
38	esv3357102	chr7:149467319-149472417	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
39	esv3399863	chr7:149468069-149471792	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
40	esv3397814	chr7:149468844-149471392	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149468200-149471000	Active TSS	Duodenum Mucosa	Duodenum
2	chr7:149468200-149471200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:149468200-149471600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr7:149468400-149470200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:149468400-149470600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:149468400-149470600	Active TSS	Fetal Kidney	kidney
7	chr7:149468400-149470600	Active TSS	HSMM	muscle
8	chr7:149468400-149471200	Active TSS	Colon Smooth Muscle	Colon
9	chr7:149468400-149471200	Active TSS	Psoas Muscle	Psoas
10	chr7:149468400-149471200	Active TSS	Right Ventricle	heart
11	chr7:149468400-149471400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:149468400-149471400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:149468400-149471400	Active TSS	Rectal Smooth Muscle	rectum
14	chr7:149468400-149471600	Active TSS	Left Ventricle	heart
15	chr7:149468400-149471800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chr7:149468600-149470200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:149468600-149470200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr7:149468600-149470200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:149468600-149470200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:149468600-149470200	Active TSS	Liver	Liver
21	chr7:149468600-149470200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
22	chr7:149468600-149470200	Active TSS	Stomach Smooth Muscle	stomach
23	chr7:149468600-149470200	Active TSS	GM12878-XiMat	blood
24	chr7:149468600-149470400	Bivalent/Poised TSS	HSMMtube	muscle
25	chr7:149468600-149470600	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr7:149468600-149470600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:149468600-149470600	Active TSS	Brain Angular Gyrus	brain
28	chr7:149468600-149470600	Active TSS	Fetal Lung	lung
29	chr7:149468600-149470600	Active TSS	Hela-S3	cervix
30	chr7:149468600-149470800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:149468600-149470800	Active TSS	Primary hematopoietic stem cells	blood
32	chr7:149468600-149470800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:149468600-149470800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:149468600-149471000	Active TSS	Brain Cingulate Gyrus	brain
35	chr7:149468600-149471000	Active TSS	Brain Hippocampus Middle	brain
36	chr7:149468600-149471000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr7:149468600-149471000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:149468600-149471000	Active TSS	Brain Substantia Nigra	brain
39	chr7:149468600-149471000	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr7:149468600-149471000	Active TSS	Right Atrium	heart
41	chr7:149468600-149471000	Active TSS	A549	lung
42	chr7:149468600-149471200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:149468600-149471200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:149468600-149471200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:149468600-149471200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:149468600-149471200	Active TSS	Aorta	Aorta
47	chr7:149468600-149471200	Active TSS	Esophagus	oesophagus
48	chr7:149468600-149471200	Active TSS	Lung	lung
49	chr7:149468600-149471200	Active TSS	Ovary	ovary
50	chr7:149468600-149471200	Active TSS	Pancreas	Pancrea

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