Variant report

Variant	rs9620235
Chromosome Location	chr22:23628161-23628162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:23620853-23632783	K562	blood:	n/a	n/a
2	POLR2A	chr22:23625964-23632820	K562	blood:	n/a	n/a
3	POLR2A	chr22:23624635-23630423	K562	blood:	n/a	n/a
4	ELF1	chr22:23627583-23628808	K562	blood:	n/a	n/a
5	POLR2A	chr22:23627092-23628358	K562	blood:	n/a	n/a
6	POLR2A	chr22:23627960-23630046	K562	blood:	n/a	n/a
7	POLR2A	chr22:23621086-23630578	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23627988..23629163-chr9:133607215..133608093,3	K562	blood:
2	chr22:23628099..23629916-chr9:133611230..133613070,2	K562	blood:
3	chr22:23627103..23630736-chr9:133614856..133619063,5	K562	blood:
4	chr22:23622356..23623880-chr22:23626085..23628786,2	MCF-7	breast:
5	chr22:23519278..23524652-chr22:23627855..23631618,5	MCF-7	breast:

No data

Variant related genes	Relation type
BCR	TF binding region
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11090227	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11090228	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11704376	0.87[EUR][1000 genomes]
rs11704598	0.87[EUR][1000 genomes]
rs11704766	0.87[EUR][1000 genomes]
rs11912632	0.87[EUR][1000 genomes]
rs11912657	0.87[EUR][1000 genomes]
rs11912682	0.87[EUR][1000 genomes]
rs11913665	0.86[EUR][1000 genomes]
rs12483810	1.00[ASN][1000 genomes]
rs12484271	1.00[ASN][1000 genomes]
rs12484705	1.00[ASN][1000 genomes]
rs12484731	1.00[ASN][1000 genomes]
rs13054277	0.87[EUR][1000 genomes]
rs13054840	0.87[EUR][1000 genomes]
rs16802	0.81[AMR][1000 genomes]
rs1811017	0.85[AMR][1000 genomes]
rs1811018	0.85[AMR][1000 genomes]
rs2227939	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2330369	0.85[AMR][1000 genomes]
rs35837404	0.87[EUR][1000 genomes]
rs3788358	0.81[AMR][1000 genomes]
rs5751619	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs5759669	0.85[AMR][1000 genomes]
rs5759670	0.83[AMR][1000 genomes]
rs5759675	0.85[AMR][1000 genomes]
rs5759679	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs5759681	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs5759682	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6003593	0.85[AMR][1000 genomes]
rs6003598	0.85[AMR][1000 genomes]
rs6003600	0.85[AMR][1000 genomes]
rs62219795	0.87[EUR][1000 genomes]
rs62219796	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7288846	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289192	0.87[EUR][1000 genomes]
rs7291469	0.87[EUR][1000 genomes]
rs7292656	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs743584	0.86[EUR][1000 genomes]
rs8139664	0.87[EUR][1000 genomes]
rs8141608	0.87[EUR][1000 genomes]
rs8141706	0.87[EUR][1000 genomes]
rs9608094	0.87[EUR][1000 genomes]
rs9608095	0.87[EUR][1000 genomes]
rs9608097	0.85[EUR][1000 genomes]
rs9608100	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9608101	0.85[EUR][1000 genomes]
rs9612268	0.86[EUR][1000 genomes]
rs9612269	0.85[AMR][1000 genomes]
rs9612270	0.85[EUR][1000 genomes]
rs9612272	0.85[EUR][1000 genomes]
rs9612273	0.87[EUR][1000 genomes]
rs9612275	0.87[EUR][1000 genomes]
rs9612276	0.87[EUR][1000 genomes]
rs9612277	0.87[EUR][1000 genomes]
rs9612281	0.86[EUR][1000 genomes]
rs9624074	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]

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	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised 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 miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS 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	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription 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	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong 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	92 gene(s)	inside rSNPs	diseases
16	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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	83 gene(s)	inside rSNPs	diseases
17	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
18	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
19	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
21	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
22	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
23	nsv588598	chr22:23530168-23638025	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
25	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
26	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
27	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer 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 target site	37 gene(s)	inside rSNPs	diseases
28	nsv1063476	chr22:23596683-23989388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
29	nsv544617	chr22:23596683-23989388	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
30	nsv1059951	chr22:23597270-23973060	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS 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
31	nsv1060339	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
32	nsv544618	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
33	nsv1059384	chr22:23614429-23984195	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
34	nsv544619	chr22:23614429-23984195	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23595000-23647000	Strong transcription	Dnd41	blood
2	chr22:23595800-23649600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:23599400-23635000	Weak transcription	Small Intestine	intestine
4	chr22:23600200-23632000	Strong transcription	Fetal Intestine Small	intestine
5	chr22:23601800-23641000	Strong transcription	Primary T cells from cord blood	blood
6	chr22:23603400-23631600	Strong transcription	Fetal Intestine Large	intestine
7	chr22:23608800-23649400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:23612600-23647800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:23613000-23629600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:23613000-23640800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:23616600-23639000	Weak transcription	Fetal Kidney	kidney
12	chr22:23616800-23637200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr22:23618200-23628600	Weak transcription	Fetal Lung	lung
14	chr22:23623400-23631800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:23623600-23630400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:23624000-23647000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:23624000-23649200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:23624200-23632000	Strong transcription	K562	blood
19	chr22:23624200-23640000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:23624200-23644600	Strong transcription	Lung	lung
21	chr22:23624200-23647000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr22:23624200-23647200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:23624400-23636200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr22:23624400-23640800	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr22:23624400-23649400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:23624400-23649400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr22:23624400-23649400	Strong transcription	Thymus	Thymus
28	chr22:23624400-23649600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr22:23624400-23649600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:23624600-23629000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:23624600-23629200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr22:23624600-23631200	Strong transcription	Placenta	Placenta
33	chr22:23624600-23631400	Weak transcription	Fetal Brain Male	brain
34	chr22:23624600-23631800	Strong transcription	Fetal Brain Female	brain
35	chr22:23624600-23632000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr22:23624600-23632000	Strong transcription	Right Atrium	heart
37	chr22:23624600-23632800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr22:23624600-23632800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr22:23624600-23637600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:23624600-23638000	Strong transcription	Right Ventricle	heart
41	chr22:23624600-23641000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:23624600-23646200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:23624600-23647000	Strong transcription	Fetal Thymus	thymus
44	chr22:23624600-23647800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr22:23624600-23648200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr22:23624600-23649000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:23624600-23649400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr22:23624800-23631400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr22:23624800-23631800	Strong transcription	Adipose Nuclei	Adipose
50	chr22:23624800-23632400	Weak transcription	Hela-S3	cervix

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