Variant report

Variant	rs217854
Chromosome Location	chr5:37360087-37360088
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37341337..37344195-chr5:37360002..37362809,2	K562	blood:
2	chr5:37358150..37361413-chr5:37362395..37366227,3	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10056350	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10941328	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10941335	1.00[AMR][1000 genomes]
rs10941342	1.00[AMR][1000 genomes]
rs125684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13176630	1.00[AMR][1000 genomes]
rs150619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150620	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150622	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1589115	1.00[AMR][1000 genomes]
rs177811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1829291	1.00[AMR][1000 genomes]
rs2056872	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216372	0.92[AFR][1000 genomes]
rs216373	0.91[AFR][1000 genomes]
rs216374	0.88[AFR][1000 genomes]
rs216375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216376	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216379	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216381	0.91[AFR][1000 genomes]
rs216382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216383	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216384	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216390	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216397	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216399	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216400	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216401	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2176477	1.00[AMR][1000 genomes]
rs217773	0.92[AFR][1000 genomes]
rs217774	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217775	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217779	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217782	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217783	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217785	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217786	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217796	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217801	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217815	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217816	0.87[AFR][1000 genomes]
rs217824	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217853	1.00[AFR][1000 genomes]
rs217855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2366173	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2548041	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2886592	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4298274	1.00[AMR][1000 genomes]
rs485536	1.00[AMR][1000 genomes]
rs4869500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4869502	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4869510	1.00[AMR][1000 genomes]
rs490035	1.00[AMR][1000 genomes]
rs53429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55848769	1.00[AMR][1000 genomes]
rs56401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56402	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs573498	1.00[AMR][1000 genomes]
rs577128	1.00[AMR][1000 genomes]
rs594478	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59948566	1.00[AMR][1000 genomes]
rs61739227	0.85[AFR][1000 genomes]
rs6451315	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs661097	1.00[AMR][1000 genomes]
rs681028	1.00[AMR][1000 genomes]
rs6889826	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6890019	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749012	1.00[AMR][1000 genomes]
rs73749051	1.00[AMR][1000 genomes]
rs73749064	1.00[AMR][1000 genomes]
rs73750958	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750959	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7706007	0.85[AFR][1000 genomes]
rs7710108	1.00[AMR][1000 genomes]
rs7715310	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7723593	0.89[AFR][1000 genomes]
rs7729149	1.00[AMR][1000 genomes]
rs9292654	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic 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	42 gene(s)	inside rSNPs	diseases
6	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic 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	42 gene(s)	inside rSNPs	diseases
13	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
14	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
16	nsv881512	chr5:37239240-37364693	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
18	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
19	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
20	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
21	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription 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	23 gene(s)	inside rSNPs	diseases
22	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
23	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	nsv881076	chr5:37294473-37479198	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
26	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
27	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
30	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
31	nsv1030797	chr5:37335832-37445040	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
32	nsv980968	chr5:37348697-37363379	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37289000-37369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:37296400-37365400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:37296400-37369000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:37296800-37364600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr5:37296800-37364600	Strong transcription	Dnd41	blood
6	chr5:37296800-37365600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:37297000-37364200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:37297000-37365400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:37297400-37364600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:37307800-37368600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:37308800-37365400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:37311600-37365400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:37311600-37365400	Strong transcription	Fetal Muscle Leg	muscle
14	chr5:37319200-37364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:37319400-37365400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:37323400-37363600	Weak transcription	Stomach Mucosa	stomach
17	chr5:37324400-37365400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:37330000-37364200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr5:37334800-37369600	Weak transcription	HSMMtube	muscle
20	chr5:37337400-37370000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:37340800-37370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:37342600-37369000	Weak transcription	Fetal Brain Male	brain
23	chr5:37342800-37369600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:37347400-37370000	Weak transcription	Aorta	Aorta
25	chr5:37347800-37369000	Weak transcription	Small Intestine	intestine
26	chr5:37348200-37369400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:37348800-37364600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:37350400-37365800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:37350600-37368800	Strong transcription	Fetal Stomach	stomach
30	chr5:37350800-37362000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:37351400-37368600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:37351400-37368800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:37351600-37363200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:37351600-37369200	Weak transcription	Fetal Heart	heart
35	chr5:37353000-37363400	Weak transcription	Brain Substantia Nigra	brain
36	chr5:37353000-37363800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:37353200-37361400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr5:37353400-37362000	Weak transcription	HMEC	breast
39	chr5:37353600-37368600	Weak transcription	Pancreas	Pancrea
40	chr5:37354000-37365400	Strong transcription	Fetal Thymus	thymus
41	chr5:37354200-37361800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:37354600-37361400	Weak transcription	NHDF-Ad	bronchial
43	chr5:37354800-37362000	Weak transcription	Primary B cells from cord blood	blood
44	chr5:37354800-37369200	Weak transcription	Right Ventricle	heart
45	chr5:37355400-37361000	Weak transcription	A549	lung
46	chr5:37355600-37364400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:37356000-37360200	Strong transcription	HepG2	liver
48	chr5:37356400-37361600	Weak transcription	NHLF	lung
49	chr5:37356800-37362000	Weak transcription	GM12878-XiMat	blood
50	chr5:37356800-37362000	Weak transcription	HSMM	muscle

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