Variant report

Variant	rs3768687
Chromosome Location	chr2:148672020-148672021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1014064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1015096	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs1020653	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1030317	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10460259	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10497024	1.00[CEU][hapmap];0.83[JPT][hapmap];0.98[EUR][1000 genomes]
rs10803523	0.95[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1128919	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11884013	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11886876	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11888152	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11889608	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11900506	0.88[CEU][hapmap]
rs11901963	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11904758	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12053113	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12053401	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs12104822	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12463798	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12464617	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12469015	0.92[EUR][1000 genomes]
rs12469504	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12469939	0.94[EUR][1000 genomes]
rs12472058	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12475399	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12479193	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12987286	1.00[CEU][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes]
rs12989250	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs12989596	0.90[EUR][1000 genomes]
rs12990262	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12990959	0.88[CEU][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12992412	0.91[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs12997065	0.85[EUR][1000 genomes]
rs12998729	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[EUR][1000 genomes]
rs13000597	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13004041	0.94[EUR][1000 genomes]
rs13004451	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13005423	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13006184	0.94[EUR][1000 genomes]
rs13008497	1.00[CEU][hapmap];0.83[JPT][hapmap];0.98[EUR][1000 genomes]
rs13012311	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13013743	0.94[EUR][1000 genomes]
rs13013867	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13014904	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13014926	0.85[EUR][1000 genomes]
rs13016083	0.88[EUR][1000 genomes]
rs13017754	0.94[EUR][1000 genomes]
rs13019386	0.86[EUR][1000 genomes]
rs13019809	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13021605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs13021972	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13022319	0.85[EUR][1000 genomes]
rs13022962	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs13025219	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13025589	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13025701	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13026220	0.94[EUR][1000 genomes]
rs13026650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027200	0.94[EUR][1000 genomes]
rs13027706	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13028348	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs13028411	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13029038	0.87[CEU][hapmap]
rs13031064	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13033589	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13033696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13034494	0.97[EUR][1000 genomes]
rs13034561	0.86[EUR][1000 genomes]
rs13034793	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1345994	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1364658	1.00[CEU][hapmap];0.83[JPT][hapmap];0.95[EUR][1000 genomes]
rs1364660	0.85[EUR][1000 genomes]
rs1424944	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1424946	0.86[EUR][1000 genomes]
rs1424949	0.84[EUR][1000 genomes]
rs1424954	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1531032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1598207	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16855486	0.86[EUR][1000 genomes]
rs1863152	0.88[CEU][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1863153	0.88[CEU][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1895693	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1975748	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs1991169	0.88[CEU][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2059422	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2113793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2161983	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2161984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2161985	0.85[EUR][1000 genomes]
rs2288190	0.88[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2303392	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2307394	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2382201	1.00[CEU][hapmap]
rs34005843	0.86[EUR][1000 genomes]
rs34539489	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35370215	0.84[EUR][1000 genomes]
rs3764955	1.00[CEU][hapmap];0.83[JPT][hapmap];0.99[EUR][1000 genomes]
rs3768689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972272	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4972316	0.86[EUR][1000 genomes]
rs4972317	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4972318	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4972322	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4972356	0.94[EUR][1000 genomes]
rs4972357	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57679331	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6430241	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6430242	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6711673	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6729465	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6729997	0.99[EUR][1000 genomes]
rs6734998	0.88[CEU][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6760703	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs723681	1.00[CEU][hapmap];0.83[JPT][hapmap];0.99[EUR][1000 genomes]
rs7423878	0.87[AMR][1000 genomes]
rs7559714	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7559925	0.97[EUR][1000 genomes]
rs7594075	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7598361	1.00[CEU][hapmap]
rs7600869	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs897172	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs929939	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9679427	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs987122	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers 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	11 gene(s)	inside rSNPs	diseases
7	nsv1000246	chr2:148669162-148780280	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv535968	chr2:148669162-148780280	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148642800-148674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:148646200-148684400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:148646600-148691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
6	chr2:148649600-148674800	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:148651200-148691600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:148652800-148690000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:148652800-148693600	Weak transcription	Lung	lung
11	chr2:148653200-148692000	Weak transcription	Ovary	ovary
12	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
13	chr2:148653600-148673400	Weak transcription	HepG2	liver
14	chr2:148653800-148672800	Weak transcription	Liver	Liver
15	chr2:148654000-148690000	Weak transcription	Primary T cells from cord blood	blood
16	chr2:148655200-148674800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:148656200-148676800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:148657800-148674400	Weak transcription	Fetal Kidney	kidney
19	chr2:148657800-148674400	Weak transcription	Left Ventricle	heart
20	chr2:148657800-148683000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:148658000-148672600	Weak transcription	Fetal Intestine Large	intestine
22	chr2:148658600-148674400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
24	chr2:148659600-148719800	Weak transcription	Gastric	stomach
25	chr2:148660200-148673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:148661200-148673400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:148661600-148718200	Weak transcription	Fetal Intestine Small	intestine
28	chr2:148662000-148683800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:148663000-148692200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:148664200-148672800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:148664600-148721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:148664800-148693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:148668600-148674800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:148668600-148682400	Weak transcription	Psoas Muscle	Psoas
35	chr2:148668600-148683600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:148668600-148691800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:148668800-148683400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:148669000-148673200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:148669200-148672200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:148669200-148678000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:148670600-148690200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:148670800-148672200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:148670800-148672200	Enhancers	Fetal Brain Female	brain
44	chr2:148670800-148672800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:148670800-148674800	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:148671000-148672200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:148671000-148672200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr2:148671000-148672200	Enhancers	HUVEC	blood vessel
49	chr2:148671000-148672400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:148671000-148672400	Enhancers	Stomach Mucosa	stomach

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