Variant report

Variant	rs1042695
Chromosome Location	chr8:11421955-11421956
allele	G/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	RUNX3	chr8:11421928-11422464	GM12878	blood:	n/a	n/a
2	E2F6	chr8:11421833-11422586	A549	lung:	n/a	chr8:11422166-11422175 chr8:11422284-11422299
3	CTCF	chr8:11421840-11421990	WERI-Rb-1	eye:	n/a	n/a
4	ATF2	chr8:11421419-11423115	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:11420963-11422504	GM12878	blood:	n/a	n/a
6	CTCF	chr8:11421790-11422375	MCF-7	breast:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
7	MTA3	chr8:11421576-11422484	GM12878	blood:	n/a	n/a
8	BCLAF1	chr8:11421849-11422547	GM12878	blood:	n/a	chr8:11422235-11422243
9	STAT5A	chr8:11421220-11423792	GM12878	blood:	n/a	chr8:11422161-11422172 chr8:11423050-11423058 chr8:11423608-11423620
10	POU2F2	chr8:11421939-11422456	GM12891	blood:	n/a	n/a
11	POLR2A	chr8:11420138-11422456	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:11421105-11423866	GM12892	blood:	n/a	n/a
13	BCL3	chr8:11421891-11422340	A549	lung:	n/a	chr8:11422235-11422243
14	POLR2A	chr8:11420282-11423813	GM19193	blood:	n/a	n/a
15	CTCF	chr8:11421840-11421990	AG09309	skin:	n/a	n/a
16	RAD21	chr8:11421712-11422558	IMR90	lung:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
17	CTCF	chr8:11421805-11421968	Gliobla	brain:	n/a	n/a
18	POLR2A	chr8:11420541-11423799	GM12878	blood:	n/a	n/a
19	MAX	chr8:11421381-11422522	A549	lung:	n/a	n/a
20	RAD21	chr8:11421465-11422487	SK-N-SH_RA	brain:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
21	RAD21	chr8:11421359-11422484	H1-hESC	embryonic stem cell:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
22	RAD21	chr8:11421815-11422699	HCT-116	colon:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
23	CTCF	chr8:11421487-11422352	H1-hESC	embryonic stem cell:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
24	PAX5	chr8:11421913-11422461	GM12878	blood:	n/a	n/a
25	CTCF	chr8:11421880-11422030	AG04449	skin:	n/a	n/a
26	RAD21	chr8:11421410-11422523	H1-hESC	embryonic stem cell:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
27	ELF1	chr8:11421373-11422466	GM12878	blood:	n/a	chr8:11422221-11422233
28	CTCF	chr8:11421860-11422010	HPF	lung:	n/a	n/a
29	POLR2A	chr8:11420200-11423844	GM12878	blood:	n/a	n/a
30	NFATC1	chr8:11421788-11423211	GM12878	blood:	n/a	n/a
31	CTCF	chr8:11421557-11422720	A549	lung:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
32	CTBP2	chr8:11421254-11422371	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr8:11421799-11422481	HepG2	liver:	n/a	n/a
34	STAT5A	chr8:11421930-11422376	GM12878	blood:	n/a	chr8:11422161-11422172
35	CTCF	chr8:11421799-11422378	ProgFib	skin:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
36	CTCF	chr8:11421903-11422026	GM20000	blood:	n/a	n/a
37	RAD21	chr8:11421696-11421975	GM12878	blood:	n/a	n/a
38	RAD21	chr8:11421756-11422523	A549	lung:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
39	CTCF	chr8:11421688-11422447	GM12878	blood:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
40	CTCF	chr8:11421860-11422010	GM12874	blood:	n/a	n/a
41	NFATC1	chr8:11421248-11422846	GM12878	blood:	n/a	n/a
42	FOXM1	chr8:11421795-11422527	GM12878	blood:	n/a	n/a
43	CTCF	chr8:11421820-11421970	HMEC	breast:	n/a	n/a
44	SIN3A	chr8:11421514-11422429	H1-hESC	embryonic stem cell:	n/a	n/a
45	BCLAF1	chr8:11421273-11422842	GM12878	blood:	n/a	chr8:11422235-11422243
46	RAD21	chr8:11421215-11423188	SK-N-SH	brain:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
47	POLR2A	chr8:11419462-11423966	GM12878	blood:	n/a	n/a
48	BCL3	chr8:11421867-11422432	GM12878	blood:	n/a	chr8:11422235-11422243
49	SMC3	chr8:11421823-11422424	GM12878	blood:	n/a	chr8:11422226-11422240 chr8:11422230-11422240
50	CTCF	chr8:11421791-11421955	LNCaP	prostate:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11421934-11421984	AG10803	skin:	n/a
2	chr8:11421934-11421984	PrEC	prostate:	n/a
3	chr8:11421934-11421984	HIPEpiC	eye:	n/a
4	chr8:11421934-11421984	GM19239	blood:	n/a
5	chr8:11421934-11421984	GM12892	blood:	n/a
6	chr8:11421934-11421984	NHBE	bronchial:	n/a
7	chr8:11421934-11421984	HepG2	liver:	n/a
8	chr8:11421934-11421984	NT2-D1	testis:	n/a
9	chr8:11421934-11421984	AoSMC	blood vessel:	n/a
10	chr8:11421934-11421984	ECC-1	luminal epithelium:	n/a
11	chr8:11421934-11421984	Hela-S3	cervix:	n/a
12	chr8:11421934-11421984	SKMC	muscle:	n/a
13	chr8:11421934-11421984	HRPEpiC	eye:	n/a
14	chr8:11421934-11421984	Jurkat	blood:	n/a
15	chr8:11421934-11421984	HRCEpiC	kidney:	n/a
16	chr8:11421934-11421984	HL-60	blood:	n/a
17	chr8:11421934-11421984	U87	brain:	n/a
18	chr8:11421934-11421984	SAEC	small airway:	n/a
19	chr8:11421934-11421984	HEEpiC	esophagus:	n/a
20	chr8:11421934-11421984	Hepatocyte	liver:	n/a
21	chr8:11421934-11421984	MCF-7	breast:	n/a
22	chr8:11421934-11421984	SK-N-MC	brain:	n/a
23	chr8:11421934-11421984	HCT-116	colon:	n/a
24	chr8:11421934-11421984	HEK293	kidney:	embryo
25	chr8:11421934-11421984	Caco-2	colon:	n/a
26	chr8:11421934-11421984	HCF	heart:	n/a
27	chr8:11421934-11421984	GM12891	blood:	n/a
28	chr8:11421934-11421984	RPTEC	kidney:	n/a
29	chr8:11421934-11421984	MCF10A-Er-Src	breast:	n/a
30	chr8:11421934-11421984	NH-A	brain:	n/a
31	chr8:11421934-11421984	PFSK-1	brain:	n/a
32	chr8:11421934-11421984	IMR90	lung:	fetal
33	chr8:11421934-11421984	A549	lung:	n/a
34	chr8:11421934-11421984	ovcar-3	ovarian:	n/a
35	chr8:11421934-11421984	AG09319	gingival:	n/a
36	chr8:11421934-11421984	ProgFib	skin:	n/a
37	chr8:11421934-11421984	HMEC	breast:	n/a
38	chr8:11421934-11421984	K562	blood:	n/a
39	chr8:11421934-11421984	GM12878	blood:	n/a
40	chr8:11421934-11421984	AG04449	skin:	fetal
41	chr8:11421934-11421984	HCPEpiC	choroid plexus:	n/a
42	chr8:11421934-11421984	BE2_C	brain:	n/a
43	chr8:11421934-11421984	NB4	blood:	n/a
44	chr8:11421934-11421984	H1-hESC	embryonic stem cell:	embryo
45	chr8:11421934-11421984	BJ	skin:	n/a
46	chr8:11421934-11421984	T-47D	breast:	n/a
47	chr8:11421934-11421984	NHDF-neo	bronchial:	n/a
48	chr8:11421934-11421984	GM06990	blood:	n/a
49	chr8:11421934-11421984	CMK	blood:	n/a
50	chr8:11421934-11421984	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11270794..11271511-chr8:11421638..11422402,4	MCF-7	breast:
2	chr8:11379820..11382247-chr8:11420170..11422972,2	MCF-7	breast:
3	chr8:11420542..11422083-chr8:11608840..11610442,2	MCF-7	breast:
4	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
5	chr8:11266732..11267234-chr8:11421696..11422273,2	K562	blood:
6	chr8:11421685..11422256-chr8:11800840..11801381,2	K562	blood:
7	chr8:11421781..11422781-chr8:11603539..11604516,9	K562	blood:
8	chr8:11421778..11422656-chr8:11816114..11817045,3	MCF-7	breast:
9	chr8:11421707..11422824-chr8:11816126..11817083,9	K562	blood:
10	chr8:11421842..11422772-chr8:11603355..11604431,7	MCF-7	breast:
11	chr8:11421719..11422643-chr8:11446645..11447610,4	K562	blood:

Variant related genes	Relation type
ENSG00000255354	TF binding region
ENSG00000255354	CpG island
ENSG00000269954	Chromatin interaction
ENSG00000254774	Chromatin interaction
ENSG00000255518	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs14053	0.86[EUR][1000 genomes]
rs1871295	0.86[EUR][1000 genomes]
rs6990322	0.86[EUR][1000 genomes]
rs73545895	0.86[EUR][1000 genomes]
rs73549622	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription 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
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1032195	chr8:11420541-11480692	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11420800-11422400	Weak transcription	Dnd41	blood
2	chr8:11421000-11422200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11421000-11422600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:11421200-11422200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:11421200-11422400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:11421200-11422600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr8:11421200-11422600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:11421200-11422600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:11421200-11422800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:11421200-11422800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:11421400-11422000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:11421400-11422000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:11421400-11422000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:11421400-11422200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:11421400-11422200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:11421400-11422200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:11421400-11422200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:11421400-11422200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr8:11421400-11422200	Flanking Bivalent TSS/Enh	Thymus	Thymus
20	chr8:11421400-11422400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr8:11421400-11422400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:11421400-11422400	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr8:11421400-11422400	Flanking Active TSS	Pancreas	Pancrea
24	chr8:11421400-11422400	Bivalent/Poised TSS	HepG2	liver
25	chr8:11421400-11422400	Flanking Bivalent TSS/Enh	NHEK	skin
26	chr8:11421400-11422600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:11421400-11422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:11421400-11422600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr8:11421400-11422600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:11421400-11422600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:11421400-11422600	Bivalent Enhancer	Fetal Brain Male	brain
32	chr8:11421400-11422600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr8:11421400-11422600	Active TSS	Right Atrium	heart
34	chr8:11421400-11422800	Bivalent Enhancer	Liver	Liver
35	chr8:11421400-11422800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
36	chr8:11421400-11423000	Bivalent Enhancer	Esophagus	oesophagus
37	chr8:11421400-11423000	Enhancers	Fetal Heart	heart
38	chr8:11421600-11422000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr8:11421600-11422000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
40	chr8:11421600-11422000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:11421600-11422000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
42	chr8:11421600-11422000	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr8:11421600-11422000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
44	chr8:11421600-11422000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
45	chr8:11421600-11422200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:11421600-11422200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
48	chr8:11421600-11422200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--

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