Variant report

Variant	rs9467740
Chromosome Location	chr6:26383250-26383251
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr6:26383089-26383553	GM19099	blood:	n/a	n/a
2	RCOR1	chr6:26383245-26383549	K562	blood:	n/a	n/a
3	RUNX3	chr6:26383250-26383834	GM12878	blood:	n/a	n/a
4	RFX5	chr6:26382422-26383954	HepG2	liver:	n/a	n/a
5	SIN3AK20	chr6:26383250-26383614	SK-N-SH	brain:	n/a	n/a
6	MAZ	chr6:26383144-26383859	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:26383242-26384084	K562	blood:	n/a	n/a
8	NFYB	chr6:26383117-26383568	K562	blood:	n/a	chr6:26383272-26383287
9	RFX5	chr6:26382275-26384235	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:26383219-26383621	HUVEC	blood vessel:	n/a	n/a
11	CREB1	chr6:26383137-26383493	ECC-1	luminal epithelium:	n/a	n/a
12	ZNF143	chr6:26383200-26383416	Hela-S3	cervix:	n/a	n/a
13	WRNIP1	chr6:26383222-26383582	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:26383164-26384265	GM12878	blood:	n/a	n/a
15	NFYA	chr6:26383146-26383445	GM12878	blood:	n/a	n/a
16	CREB1	chr6:26382847-26383718	K562	blood:	n/a	n/a
17	RFX5	chr6:26382119-26384806	IMR90	lung:	n/a	n/a
18	RFX5	chr6:26383001-26383604	Hela-S3	cervix:	n/a	n/a
19	SP1	chr6:26383078-26383410	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:26383160-26383638	K562	blood:	n/a	n/a
21	CREB1	chr6:26383166-26383441	A549	lung:	n/a	n/a
22	GTF2F1	chr6:26383073-26383490	K562	blood:	n/a	n/a
23	EP300	chr6:26383045-26383354	GM12878	blood:	n/a	chr6:26383158-26383172 chr6:26383159-26383168
24	TEAD4	chr6:26383166-26384660	K562	blood:	n/a	chr6:26383850-26383859
25	POLR2A	chr6:26383185-26383514	GM12891	blood:	n/a	n/a
26	MAZ	chr6:26383189-26384083	K562	blood:	n/a	n/a
27	POLR2A	chr6:26383223-26383632	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr6:26383234-26383623	GM12878	blood:	n/a	n/a
29	CREB1	chr6:26383016-26383600	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr6:26383160-26383790	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr6:26383014-26383637	GM12878	blood:	n/a	n/a
32	NFYA	chr6:26383145-26383459	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr6:26383053-26383725	GM12878	blood:	n/a	n/a
34	CREB1	chr6:26382961-26383624	HepG2	liver:	n/a	n/a
35	ZNF143	chr6:26383102-26383494	K562	blood:	n/a	n/a
36	POLR2A	chr6:26383221-26383559	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr6:26383168-26383457	A549	lung:	n/a	n/a
38	POLR2A	chr6:26383194-26383634	HepG2	liver:	n/a	n/a
39	HEY1	chr6:26383199-26383536	K562	blood:	n/a	n/a
40	BRCA1	chr6:26383245-26383595	H1-hESC	embryonic stem cell:	n/a	n/a
41	RFX5	chr6:26382993-26383785	GM12878	blood:	n/a	n/a
42	NFYB	chr6:26383133-26383456	Hela-S3	cervix:	n/a	chr6:26383272-26383287
43	POLR2A	chr6:26383243-26383593	HCT-116	colon:	n/a	n/a
44	USF2	chr6:26383130-26383396	Hela-S3	cervix:	n/a	n/a
45	RFX5	chr6:26382319-26384073	K562	blood:	n/a	n/a
46	POLR2A	chr6:26383229-26383669	HepG2	liver:	n/a	n/a
47	BRCA1	chr6:26383197-26383433	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:26383201-26383810	K562	blood:	n/a	n/a
49	NRF1	chr6:26383248-26383448	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:26383189-26383827	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26363140..26366680-chr6:26382117..26385194,3	MCF-7	breast:
2	chr6:26378930..26384775-chr6:26385231..26390850,8	MCF-7	breast:
3	chr6:26381677..26383433-chr6:26537712..26539518,2	K562	blood:
4	chr6:26382632..26385246-chr6:26444412..26446084,2	K562	blood:
5	chr6:26376258..26380187-chr6:26381333..26383262,3	K562	blood:
6	chr6:26188276..26190980-chr6:26381179..26383865,2	K562	blood:
7	chr6:26056232..26057928-chr6:26382432..26384674,2	K562	blood:

No data

Variant related genes	Relation type
BTN2A2	TF binding region
ENSG00000182952	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000124508	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000215979	Chromatin interaction
ENSG00000186470	Chromatin interaction
ENSG00000111801	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12189870	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12208220	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237233	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3757140	0.97[ASN][1000 genomes]
rs3757142	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3757144	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3757145	0.97[ASN][1000 genomes]
rs3757146	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3757148	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3757149	0.97[ASN][1000 genomes]
rs4490658	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6912853	0.81[EUR][1000 genomes]
rs7756881	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7757048	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7775720	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9461249	0.98[ASN][1000 genomes]
rs9461250	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9467728	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9467729	0.95[ASN][1000 genomes]
rs9467730	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9467731	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9467732	0.82[AFR][1000 genomes]
rs9467733	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9467734	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9467735	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9467736	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9467738	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9467739	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9467741	0.98[ASN][1000 genomes]
rs9467742	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9467743	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9467745	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9467746	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9467747	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers 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 target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv883491	chr6:26367689-26410800	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic 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	20 gene(s)	inside rSNPs	diseases
7	nsv883492	chr6:26367689-26436592	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv883493	chr6:26367689-26442786	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv883494	chr6:26367833-26442786	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv883495	chr6:26367833-26443853	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3334611	chr6:26367893-26443308	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
13	nsv883496	chr6:26369549-26413088	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
14	nsv883497	chr6:26369549-26442786	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv883498	chr6:26369549-26443853	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1030863	chr6:26371006-26405990	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv883499	chr6:26377591-26454454	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
18	esv3427999	chr6:26378373-26453532	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
19	esv1807546	chr6:26378681-26387546	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
20	nsv462664	chr6:26379537-26451553	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv601184	chr6:26379537-26451553	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26366000-26383400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:26376000-26383400	Weak transcription	Gastric	stomach
3	chr6:26378200-26383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:26380200-26383400	Weak transcription	Small Intestine	intestine
5	chr6:26382600-26383800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:26383000-26383600	Active TSS	Adipose Nuclei	Adipose
7	chr6:26383000-26383800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:26383000-26383800	Active TSS	Primary B cells from cord blood	blood
9	chr6:26383000-26383800	Active TSS	Brain Anterior Caudate	brain
10	chr6:26383000-26383800	Active TSS	NHEK	skin
11	chr6:26383000-26384000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:26383000-26384400	Active TSS	Stomach Smooth Muscle	stomach
13	chr6:26383000-26384600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:26383200-26383400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:26383200-26383400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr6:26383200-26383400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr6:26383200-26383400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr6:26383200-26383400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr6:26383200-26383400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:26383200-26383400	Active TSS	HepG2	liver
21	chr6:26383200-26383600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:26383200-26383600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:26383200-26383600	Active TSS	Primary hematopoietic stem cells	blood
24	chr6:26383200-26383600	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr6:26383200-26383600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:26383200-26383600	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr6:26383200-26383600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr6:26383200-26383600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:26383200-26383600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:26383200-26383600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:26383200-26383600	Active TSS	Muscle Satellite Cultured Cells	--
32	chr6:26383200-26383600	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr6:26383200-26383600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:26383200-26383600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:26383200-26383600	Active TSS	Liver	Liver
36	chr6:26383200-26383600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr6:26383200-26383600	Active TSS	Brain Hippocampus Middle	brain
38	chr6:26383200-26383600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr6:26383200-26383600	Active TSS	Fetal Brain Male	brain
40	chr6:26383200-26383600	Active TSS	Placenta	Placenta
41	chr6:26383200-26383600	Active TSS	Fetal Stomach	stomach
42	chr6:26383200-26383600	Active TSS	Fetal Thymus	thymus
43	chr6:26383200-26383600	Active TSS	Dnd41	blood
44	chr6:26383200-26383600	Active TSS	HSMM	muscle
45	chr6:26383200-26383600	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr6:26383200-26383800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:26383200-26383800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:26383200-26383800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:26383200-26383800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:26383200-26383800	Active TSS	Primary monocytes fromperipheralblood	blood

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