Variant report

Variant	rs6083882
Chromosome Location	chr20:25548475-25548476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1609701	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1888038	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2039400	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs2210053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242122	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242124	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242125	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242131	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242134	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2482907	1.00[ASN][1000 genomes]
rs2482909	1.00[ASN][1000 genomes]
rs2482917	1.00[ASN][1000 genomes]
rs2482942	1.00[ASN][1000 genomes]
rs2482945	1.00[ASN][1000 genomes]
rs2500407	0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs2500409	1.00[ASN][1000 genomes]
rs2500412	1.00[ASN][1000 genomes]
rs2500414	1.00[ASN][1000 genomes]
rs2500416	1.00[ASN][1000 genomes]
rs2500419	1.00[ASN][1000 genomes]
rs2500421	1.00[MEX][hapmap]
rs2500447	1.00[ASN][1000 genomes]
rs28801689	1.00[ASN][1000 genomes]
rs2892407	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2990515	1.00[ASN][1000 genomes]
rs364722	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs366060	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs368636	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs368748	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs371447	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs378534	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs379538	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs380021	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs384336	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs388007	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs394798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs400916	0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs409873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs409888	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs417446	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs417662	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs423248	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs426143	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs428801	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs429120	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs432403	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs439642	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs442728	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs448212	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs448866	0.84[AFR][1000 genomes]
rs4815433	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4815434	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs518336	1.00[ASW][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes]
rs55822316	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56165312	1.00[ASN][1000 genomes]
rs56751491	1.00[ASN][1000 genomes]
rs57450264	1.00[ASN][1000 genomes]
rs59122217	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59222176	1.00[ASN][1000 genomes]
rs6037112	1.00[ASN][1000 genomes]
rs6037113	1.00[ASN][1000 genomes]
rs6037118	1.00[MEX][hapmap]
rs6037119	0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6037147	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037155	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037160	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037172	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037177	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037185	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037194	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037197	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037200	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037209	1.00[ASN][1000 genomes]
rs6037213	1.00[ASN][1000 genomes]
rs60483717	1.00[ASN][1000 genomes]
rs6050591	1.00[ASN][1000 genomes]
rs6050613	1.00[ASN][1000 genomes]
rs6050618	0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6050627	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6050628	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6050695	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050711	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050735	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050740	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050752	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050759	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050772	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050776	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050786	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050806	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050831	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050837	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050839	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050852	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050875	1.00[ASN][1000 genomes]
rs6076360	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6076365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6083883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6083887	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6115206	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6132844	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7263728	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73904476	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73904499	1.00[ASN][1000 genomes]
rs73907612	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73907614	1.00[ASN][1000 genomes]
rs8116049	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs913790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs913791	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs913793	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	24 gene(s)	inside rSNPs	diseases
2	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic 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	23 gene(s)	inside rSNPs	diseases
3	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv912828	chr20:25433015-25595175	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1062452	chr20:25438025-25590278	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1066066	chr20:25439367-25588016	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv544224	chr20:25439367-25588016	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv912829	chr20:25444242-25595175	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv912830	chr20:25449945-25595175	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv994976	chr20:25466406-25593286	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv534623	chr20:25466406-25593296	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1062765	chr20:25466482-25556751	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv544225	chr20:25466482-25556751	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv912832	chr20:25527984-25595175	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	nsv912833	chr20:25539486-25595175	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25517800-25554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:25521600-25565000	Weak transcription	Aorta	Aorta
3	chr20:25524400-25565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:25531000-25554000	Weak transcription	Osteobl	bone
5	chr20:25531200-25559600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:25532600-25551600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr20:25532600-25559800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:25532600-25565000	Weak transcription	HSMMtube	muscle
9	chr20:25533400-25549600	Weak transcription	Fetal Intestine Small	intestine
10	chr20:25534800-25550000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr20:25534800-25551800	Weak transcription	HUVEC	blood vessel
12	chr20:25534800-25557600	Weak transcription	Pancreas	Pancrea
13	chr20:25534800-25561400	Weak transcription	Right Atrium	heart
14	chr20:25535000-25550000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr20:25535000-25550200	Weak transcription	Gastric	stomach
16	chr20:25535000-25554400	Weak transcription	Brain Anterior Caudate	brain
17	chr20:25535000-25560000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:25535000-25561400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr20:25535800-25565000	Weak transcription	Fetal Kidney	kidney
20	chr20:25540800-25549400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr20:25540800-25552600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr20:25541200-25549400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr20:25541200-25550000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr20:25544600-25554000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr20:25544600-25565000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr20:25544800-25549000	Weak transcription	Brain Germinal Matrix	brain
27	chr20:25544800-25550000	Weak transcription	Dnd41	blood
28	chr20:25544800-25551200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr20:25544800-25554400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr20:25544800-25559600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr20:25545000-25549800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr20:25545200-25549000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:25545200-25549200	Weak transcription	Fetal Stomach	stomach
34	chr20:25546000-25559800	Weak transcription	Fetal Muscle Leg	muscle
35	chr20:25546200-25555200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr20:25546400-25551800	Weak transcription	Fetal Thymus	thymus
37	chr20:25546400-25559800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr20:25546400-25565000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr20:25546600-25549800	Weak transcription	Thymus	Thymus
40	chr20:25546600-25559600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr20:25546600-25559800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr20:25546800-25549000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr20:25546800-25552000	Weak transcription	Ovary	ovary
44	chr20:25546800-25553200	Weak transcription	A549	lung
45	chr20:25546800-25554400	Weak transcription	Fetal Lung	lung
46	chr20:25547000-25551800	Weak transcription	Fetal Intestine Large	intestine
47	chr20:25547000-25553000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr20:25547000-25557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr20:25547000-25559600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr20:25547000-25559800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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