Variant report

Variant	rs2838493
Chromosome Location	chr21:45563826-45563827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45550802..45552649-chr21:45562821..45564566,2	MCF-7	breast:
2	chr21:45561211..45563917-chr21:45703953..45706433,2	K562	blood:
3	chr21:45560677..45566873-chr21:45750837..45755413,8	K562	blood:
4	chr21:45559963..45564053-chr21:45709027..45711326,3	K562	blood:
5	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
6	chr21:45563732..45566679-chr21:45757601..45760870,4	MCF-7	breast:
7	chr21:45561900..45564037-chr21:45757541..45759280,2	K562	blood:
8	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
9	chr21:45413538..45417421-chr21:45563044..45566344,3	K562	blood:
10	chr21:45563311..45566975-chr21:45753410..45757143,4	K562	blood:
11	chr21:45561449..45563944-chr21:45751918..45754914,2	MCF-7	breast:
12	chr21:45563341..45565212-chr21:45757835..45760498,2	K562	blood:
13	chr21:45561666..45566481-chr21:45577816..45581808,5	K562	blood:
14	chr21:45553243..45556111-chr21:45562245..45564360,2	MCF-7	breast:
15	chr21:45563303..45565530-chr21:45749263..45750812,2	K562	blood:
16	chr21:45562553..45564836-chr21:45708055..45710827,3	K562	blood:
17	chr21:45530458..45534134-chr21:45563477..45567094,3	MCF-7	breast:
18	chr21:45488029..45489681-chr21:45562055..45564999,2	K562	blood:
19	chr21:45563215..45565745-chr21:45586840..45589212,2	K562	blood:
20	chr21:45561158..45563910-chr21:45754064..45756114,2	MCF-7	breast:
21	chr21:45561894..45565955-chr21:45571282..45575871,6	MCF-7	breast:
22	chr21:45557962..45571522-chr21:45714618..45733273,43	K562	blood:
23	chr21:45563266..45565088-chr21:45597174..45599773,2	K562	blood:
24	chr21:45562399..45565041-chr21:45724395..45727249,4	MCF-7	breast:
25	chr21:45561393..45564285-chr21:45746908..45749087,3	K562	blood:
26	chr21:45561454..45564242-chr21:45746295..45748408,3	K562	blood:
27	chr21:45557511..45570034-chr21:45715093..45723808,43	MCF-7	breast:
28	chr21:45562379..45565148-chr21:45710320..45713823,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141959	Chromatin interaction
ENSG00000255902	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000252606	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000160224	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000225331	Chromatin interaction
ENSG00000241728	Chromatin interaction
ENSG00000184441	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1051981	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1059813	0.87[EUR][1000 genomes]
rs11089111	0.85[EUR][1000 genomes]
rs11089115	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs11700840	0.82[EUR][1000 genomes]
rs11700919	0.85[EUR][1000 genomes]
rs12627239	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs13046297	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs13047030	0.86[EUR][1000 genomes]
rs13048551	0.82[EUR][1000 genomes]
rs1858665	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2006694	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2020945	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2020946	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2039272	0.81[EUR][1000 genomes]
rs2051260	0.85[EUR][1000 genomes]
rs2071135	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2071142	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs2071143	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2071146	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2071147	0.87[EUR][1000 genomes]
rs2073432	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2073433	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2073435	0.86[EUR][1000 genomes]
rs2187313	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2238713	0.86[EUR][1000 genomes]
rs2242950	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2242951	0.89[ASN][1000 genomes]
rs2242953	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs2242954	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2243999	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2251267	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2255828	0.88[CEU][hapmap]
rs2255955	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs2276530	0.88[CEU][hapmap]
rs2277805	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2277806	0.88[CEU][hapmap]
rs2299815	0.88[CEU][hapmap]
rs2329707	0.84[EUR][1000 genomes]
rs2516519	0.85[EUR][1000 genomes]
rs2516521	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs2776368	0.85[EUR][1000 genomes]
rs2838469	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs2838473	0.88[CEU][hapmap]
rs2838482	0.88[CEU][hapmap]
rs2838486	0.88[CEU][hapmap]
rs2838488	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2838489	0.87[EUR][1000 genomes]
rs2838490	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs2838491	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2838492	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2838494	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs2838496	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2838498	0.89[EUR][1000 genomes]
rs2838499	0.88[EUR][1000 genomes]
rs2838500	0.81[EUR][1000 genomes]
rs2838502	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2838503	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2850150	0.81[EUR][1000 genomes]
rs2850154	0.92[EUR][1000 genomes]
rs2850155	0.85[EUR][1000 genomes]
rs2850156	0.86[EUR][1000 genomes]
rs2850157	0.86[EUR][1000 genomes]
rs2855651	0.84[EUR][1000 genomes]
rs2855652	0.86[EUR][1000 genomes]
rs2855653	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35524612	0.82[ASN][1000 genomes]
rs35538274	0.88[EUR][1000 genomes]
rs3788104	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3788108	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818881	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs4818882	0.82[EUR][1000 genomes]
rs4819370	0.81[EUR][1000 genomes]
rs4819373	0.85[EUR][1000 genomes]
rs4819376	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs4819377	0.87[EUR][1000 genomes]
rs4819378	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs4819379	0.85[EUR][1000 genomes]
rs4819380	0.89[ASN][1000 genomes]
rs4819381	0.89[EUR][1000 genomes]
rs4819383	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs62226688	0.81[ASN][1000 genomes]
rs7277269	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7279319	0.82[EUR][1000 genomes]
rs7280558	0.83[CEU][hapmap]
rs7280581	0.87[EUR][1000 genomes]
rs7281270	0.81[EUR][1000 genomes]
rs7281291	0.82[EUR][1000 genomes]
rs7281768	0.87[CEU][hapmap]
rs7282324	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7283870	0.82[EUR][1000 genomes]
rs756553	0.85[EUR][1000 genomes]
rs756554	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs756555	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs7676	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8126564	0.89[EUR][1000 genomes]
rs8130647	0.84[EUR][1000 genomes]
rs8133610	0.81[EUR][1000 genomes]
rs885872	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs915772	0.84[CEU][hapmap]
rs915774	0.83[CEU][hapmap]
rs9306172	0.88[CEU][hapmap]
rs9680179	0.86[EUR][1000 genomes]
rs968713	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs968714	0.94[CEU][hapmap];0.87[EUR][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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
18	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription 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	64 gene(s)	inside rSNPs	diseases
19	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	74 gene(s)	inside rSNPs	diseases
20	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
21	nsv187099	chr21:45563820-45563843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2838493	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45558000-45566200	Enhancers	Left Ventricle	heart
2	chr21:45558200-45573000	Weak transcription	NH-A	brain
3	chr21:45559400-45565400	Enhancers	Fetal Lung	lung
4	chr21:45559600-45564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45559600-45564600	Genic enhancers	Fetal Intestine Small	intestine
6	chr21:45559600-45572800	Weak transcription	Hela-S3	cervix
7	chr21:45559600-45573000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr21:45559600-45573000	Weak transcription	HMEC	breast
9	chr21:45559800-45564000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:45559800-45564400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:45559800-45566800	Weak transcription	HepG2	liver
12	chr21:45559800-45567000	Weak transcription	Osteobl	bone
13	chr21:45560000-45568600	Enhancers	Primary hematopoietic stem cells	blood
14	chr21:45560200-45565800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr21:45560200-45567200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45560400-45564000	Weak transcription	Brain Anterior Caudate	brain
17	chr21:45560400-45564800	Enhancers	Right Atrium	heart
18	chr21:45560400-45565800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr21:45560400-45573200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:45560600-45565000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr21:45560800-45564200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:45560800-45564400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr21:45560800-45568400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:45561000-45564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:45561000-45565000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:45561000-45566400	Weak transcription	Gastric	stomach
27	chr21:45561000-45567400	Enhancers	Esophagus	oesophagus
28	chr21:45561000-45573000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
30	chr21:45561200-45564000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:45561200-45564200	Enhancers	Colonic Mucosa	Colon
32	chr21:45561200-45564200	Enhancers	Fetal Thymus	thymus
33	chr21:45561200-45564200	Weak transcription	NHEK	skin
34	chr21:45561200-45564400	Enhancers	Primary B cells from cord blood	blood
35	chr21:45561200-45564400	Weak transcription	HSMM	muscle
36	chr21:45561200-45567000	Weak transcription	Dnd41	blood
37	chr21:45561200-45567600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr21:45561200-45574200	Weak transcription	Fetal Brain Female	brain
39	chr21:45561400-45564000	Weak transcription	A549	lung
40	chr21:45561400-45564000	Weak transcription	K562	blood
41	chr21:45561400-45564600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:45561400-45565200	Weak transcription	Fetal Kidney	kidney
43	chr21:45561400-45566000	Weak transcription	Fetal Intestine Large	intestine
44	chr21:45561400-45567400	Enhancers	Adipose Nuclei	Adipose
45	chr21:45561400-45573000	Weak transcription	Small Intestine	intestine
46	chr21:45561600-45564200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr21:45561600-45564600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr21:45561600-45565800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr21:45561600-45568200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr21:45561800-45565200	Weak transcription	Stomach Mucosa	stomach

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