Variant report

Variant	rs537430438
Chromosome Location	chr3:195633681-195633682
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	POLR2A	chr3:195633615-195635701	GM12878	blood:	n/a	n/a
2	FOXM1	chr3:195633436-195634124	GM12878	blood:	n/a	n/a
3	EBF1	chr3:195633572-195635035	GM12878	blood:	n/a	n/a
4	EP300	chr3:195632828-195634146	GM12878	blood:	n/a	chr3:195634113-195634120
5	RELA	chr3:195632909-195634194	GM18526	blood:	n/a	n/a
6	BCL11A	chr3:195633597-195634080	GM12878	blood:	n/a	n/a
7	SPI1	chr3:195633606-195634141	HL-60	blood:	n/a	n/a
8	MAX	chr3:195632889-195635444	GM12878	blood:	n/a	chr3:195634895-195634904
9	POLR2A	chr3:195633042-195635567	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:195633616-195634000	GM12878	blood:	n/a	n/a
11	WRNIP1	chr3:195633616-195635007	GM12878	blood:	n/a	n/a
12	ATF2	chr3:195633581-195634052	GM12878	blood:	n/a	n/a
13	POLR2A	chr3:195632976-195635069	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:195633582-195633908	GM12891	blood:	n/a	n/a
15	POLR2A	chr3:195633549-195635535	GM12892	blood:	n/a	n/a
16	POLR2A	chr3:195633676-195634161	GM12878	blood:	n/a	n/a
17	NFIC	chr3:195633477-195634254	GM12878	blood:	n/a	n/a
18	BHLHE40	chr3:195632762-195635654	GM12878	blood:	n/a	chr3:195634894-195634903 chr3:195634893-195634906 chr3:195634895-195634904 chr3:195634896-195634905 chr3:195634895-195634904 chr3:195634889-195634910
19	POLR2A	chr3:195632833-195635385	GM12878	blood:	n/a	n/a
20	SIN3A	chr3:195633093-195634245	GM12878	blood:	n/a	n/a
21	STAT3	chr3:195632772-195633908	MCF10A-Er-Src	breast:	n/a	chr3:195633739-195633747
22	POLR2A	chr3:195633232-195635540	GM15510	blood:	n/a	n/a
23	STAT5A	chr3:195633584-195635085	GM12878	blood:	n/a	chr3:195633739-195633747 chr3:195634373-195634385
24	PML	chr3:195633309-195634325	GM12878	blood:	n/a	n/a
25	MAZ	chr3:195633612-195635296	GM12878	blood:	n/a	chr3:195634895-195634904
26	RELA	chr3:195632840-195635322	GM19099	blood:	n/a	n/a
27	POLR2A	chr3:195633669-195634100	GM12892	blood:	n/a	n/a
28	RELA	chr3:195632867-195635393	GM18951	blood:	n/a	n/a
29	TBL1XR1	chr3:195633641-195634114	GM12878	blood:	n/a	n/a
30	POLR2A	chr3:195633637-195635749	HL-60	blood:	n/a	n/a
31	TCF12	chr3:195633588-195633860	GM12878	blood:	n/a	n/a
32	RUNX3	chr3:195632736-195634308	GM12878	blood:	n/a	n/a
33	RELA	chr3:195633357-195634336	GM12892	blood:	n/a	n/a
34	POLR2A	chr3:195633119-195637008	GM19193	blood:	n/a	n/a
35	POLR2A	chr3:195632863-195637021	GM19099	blood:	n/a	n/a
36	CHD2	chr3:195633666-195634403	GM12878	blood:	n/a	n/a
37	TCF12	chr3:195633627-195633979	GM12878	blood:	n/a	n/a
38	CHD1	chr3:195633451-195633892	GM12878	blood:	n/a	n/a
39	BCLAF1	chr3:195633477-195634300	GM12878	blood:	n/a	chr3:195634112-195634121
40	SP1	chr3:195633580-195634072	GM12878	blood:	n/a	n/a
41	SIN3AK20	chr3:195633677-195635816	MCF-7	breast:	n/a	n/a
42	GABPA	chr3:195633622-195634875	MCF-7	breast:	n/a	n/a
43	SP1	chr3:195633652-195634257	GM12878	blood:	n/a	n/a
44	MTA3	chr3:195632883-195635530	GM12878	blood:	n/a	n/a
45	POLR2A	chr3:195633177-195635574	GM18505	blood:	n/a	n/a
46	IRF4	chr3:195633557-195634038	GM12878	blood:	n/a	n/a
47	SPI1	chr3:195633629-195634016	GM12891	blood:	n/a	n/a
48	POU2F2	chr3:195633623-195634251	GM12878	blood:	n/a	n/a
49	STAT5A	chr3:195633642-195634180	GM12878	blood:	n/a	chr3:195633739-195633747
50	STAT1	chr3:195633628-195634242	GM12878	blood:	n/a	chr3:195633739-195633747

No.	Distal block	Cell Line	Cell type
1	chr3:195626205..195629975-chr3:195631463..195634034,4	K562	blood:
2	chr3:195622328..195624422-chr3:195631924..195634850,4	K562	blood:
3	chr3:195601233..195610120-chr3:195632410..195638442,11	MCF-7	breast:

Variant related genes	Relation type
TNK2-AS1	TF binding region
ENSG00000061938	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1001387	chr3:195186128-195661538	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
3	nsv428102	chr3:195201080-195829426	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv428430	chr3:195201080-195829426	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv1006217	chr3:195312401-195643229	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
6	nsv536882	chr3:195312401-195643229	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
7	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
8	nsv1006165	chr3:195383130-195777211	Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
9	nsv471621	chr3:195417664-195795474	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	esv2751988	chr3:195433543-195651349	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
11	esv2756651	chr3:195433543-195696720	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
12	nsv432528	chr3:195433543-195696720	Enhancers Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
13	esv2754016	chr3:195433543-195753766	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
14	nsv822410	chr3:195438740-195725565	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
15	nsv878162	chr3:195475989-195641908	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
16	nsv878163	chr3:195477791-195641908	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
17	nsv997893	chr3:195501392-195642192	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
18	nsv1005193	chr3:195526571-195709662	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
19	nsv878167	chr3:195550366-195637439	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
20	nsv878168	chr3:195553259-195644332	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
21	nsv1002591	chr3:195564086-195643229	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	19 gene(s)	inside rSNPs	diseases
22	nsv530397	chr3:195565159-195740416	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
23	nsv593056	chr3:195571024-195656731	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
24	nsv1007235	chr3:195582468-195651911	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
25	nsv1002629	chr3:195582468-195769275	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
26	esv1811906	chr3:195598137-195637469	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
27	nsv1014602	chr3:195606770-195661538	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
28	nsv829827	chr3:195608866-195760829	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
29	nsv469518	chr3:195623722-195795474	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
30	nsv482784	chr3:195623722-195795474	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
31	nsv1011404	chr3:195627654-195656614	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	esv1797272	chr3:195628636-195636469	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
33	esv1803975	chr3:195628636-195636469	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
34	nsv593057	chr3:195633438-195636469	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195624000-195634400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:195624400-195634000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:195624600-195634200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:195625200-195634400	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:195625400-195634200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:195625400-195634200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:195625400-195634600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:195625600-195633800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:195625600-195634200	Weak transcription	Left Ventricle	heart
10	chr3:195627800-195633800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:195628800-195634800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:195629600-195634600	Weak transcription	HUVEC	blood vessel
13	chr3:195631400-195634200	Enhancers	HepG2	liver
14	chr3:195631600-195634200	Active TSS	Psoas Muscle	Psoas
15	chr3:195632000-195635000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr3:195632400-195635400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr3:195632600-195637200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:195632800-195633800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr3:195632800-195633800	Enhancers	Brain Angular Gyrus	brain
20	chr3:195632800-195633800	Enhancers	A549	lung
21	chr3:195632800-195634000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:195632800-195634000	Active TSS	GM12878-XiMat	blood
23	chr3:195632800-195634600	Enhancers	K562	blood
24	chr3:195632800-195635000	Flanking Active TSS	HMEC	breast
25	chr3:195632800-195635400	Flanking Active TSS	NHEK	skin
26	chr3:195632800-195635600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr3:195632800-195635600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:195632800-195635600	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr3:195632800-195635800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr3:195632800-195635800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:195633000-195633800	Enhancers	Brain Substantia Nigra	brain
32	chr3:195633000-195633800	Enhancers	Fetal Stomach	stomach
33	chr3:195633000-195634000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:195633000-195634000	Enhancers	Fetal Brain Female	brain
35	chr3:195633000-195634000	Enhancers	Stomach Mucosa	stomach
36	chr3:195633000-195634200	Enhancers	Small Intestine	intestine
37	chr3:195633000-195634800	Enhancers	NH-A	brain
38	chr3:195633000-195635000	Enhancers	Gastric	stomach
39	chr3:195633000-195635200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:195633000-195635400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:195633000-195635400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr3:195633000-195635600	Flanking Active TSS	Liver	Liver
43	chr3:195633000-195636000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:195633000-195636000	Flanking Active TSS	Dnd41	blood
45	chr3:195633200-195633800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:195633200-195633800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:195633200-195633800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:195633200-195633800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:195633200-195633800	Enhancers	Placenta	Placenta
50	chr3:195633200-195633800	Enhancers	Pancreas	Pancrea

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