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Detailed information for vg0330709449:

Variant ID: vg0330709449 (JBrowse)	Variation Type: SNP
Chromosome: chr03	Position: 30709449
Reference Allele: A	Alternative Allele: G
Primary Allele: G	Secondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.01, others allele: 0.00, population size: 263. )

Flanking Sequence (100 bp) in Reference Genome:

TATTTCCCGAATAAACCCTCATACTAATCTATTATTTCATTTATAGCCCTATTTCGGAACCAATGGTAGCGACCCGTACGCCATTGGATTAGATTTCAAC[A/G]
GTGTAGATTAACAGAGATTATTTTCACTAAGACCCCTATACTATTACATATTACATATCTAGACCCTTTCGTCGTCCTCGCCGTCCCCTTCCTCCCGTCT

Reverse complement sequence

AGACGGGAGGAAGGGGACGGCGAGGACGACGAAAGGGTCTAGATATGTAATATGTAATAGTATAGGGGTCTTAGTGAAAATAATCTCTGTTAATCTACAC[T/C]
GTTGAAATCTAATCCAATGGCGTACGGGTCGCTACCATTGGTTCCGAAATAGGGCTATAAATGAAATAATAGATTAGTATGAGGGTTTATTCGGGAAATA

Allele Frequencies:

Populations	Population Size	Frequency of G(primary allele)	Frequency of A(secondary allele)	Frequency of N	Frequency of DEL	Frequency of others Allele
All	4726	88.50%	10.80%	0.66%	0.00%	NA
All Indica	2759	98.60%	1.20%	0.18%	0.00%	NA
All Japonica	1512	67.70%	30.60%	1.72%	0.00%	NA
Aus	269	100.00%	0.00%	0.00%	0.00%	NA
Indica I	595	97.80%	1.80%	0.34%	0.00%	NA
Indica II	465	96.60%	3.40%	0.00%	0.00%	NA
Indica III	913	100.00%	0.00%	0.00%	0.00%	NA
Indica Intermediate	786	98.90%	0.80%	0.38%	0.00%	NA
Temperate Japonica	767	43.00%	54.40%	2.61%	0.00%	NA
Tropical Japonica	504	97.80%	1.80%	0.40%	0.00%	NA
Japonica Intermediate	241	83.40%	14.90%	1.66%	0.00%	NA
VI/Aromatic	96	99.00%	1.00%	0.00%	0.00%	NA
Intermediate	90	82.20%	17.80%	0.00%	0.00%	NA

Allele Effect:

Var ID	Var	Locus	snpEff Annotation	CooVar Annotation	Chromatin Accessibility Score	PolyPhen-2 Effect	PolyPhen-2 Score	SIFT Effect	SIFT Score
vg0330709449	A -> G	LOC_Os03g53530.1	upstream_gene_variant ; 4788.0bp to feature; MODIFIER	silent_mutation	Average:98.897; most accessible tissue: Zhenshan97 flag leaf, score: 99.859	N	N	N	N
vg0330709449	A -> G	LOC_Os03g53550.1	upstream_gene_variant ; 2066.0bp to feature; MODIFIER	silent_mutation	Average:98.897; most accessible tissue: Zhenshan97 flag leaf, score: 99.859	N	N	N	N
vg0330709449	A -> G	LOC_Os03g53560.1	upstream_gene_variant ; 4164.0bp to feature; MODIFIER	silent_mutation	Average:98.897; most accessible tissue: Zhenshan97 flag leaf, score: 99.859	N	N	N	N
vg0330709449	A -> G	LOC_Os03g53540.1	downstream_gene_variant ; 712.0bp to feature; MODIFIER	silent_mutation	Average:98.897; most accessible tissue: Zhenshan97 flag leaf, score: 99.859	N	N	N	N
vg0330709449	A -> G	LOC_Os03g53540-LOC_Os03g53550	intergenic_region ; MODIFIER	silent_mutation	Average:98.897; most accessible tissue: Zhenshan97 flag leaf, score: 99.859	N	N	N	N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID	Ref	Alt	Root (RT)	Young Leaf (YL)	Flag Leaf (FL)	Young Panicle (YP)	Lemma & Palea (LP)	Stamen & Pistil (SP)
vg0330709449	A	G	0.08	0.12	0.06	0.09	0.05	0.07

Putative Genotype-Phenotype Associations:

Var ID	LMM P-value	LR P-value	Trait	Subpopulation	Is leadSNP	Publication
vg0330709449	5.45E-06	NA	mr1210	All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	NA	1.34E-06	mr1210	Jap_All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	4.96E-06	NA	mr1300	All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	8.02E-07	NA	mr1310	All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	NA	1.12E-06	mr1310	Jap_All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	1.95E-07	NA	mr1586	All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	NA	1.73E-06	mr1586	Jap_All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	4.12E-06	NA	mr1926	All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	5.08E-12	1.26E-31	mr1310_2	All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	6.49E-06	1.95E-11	mr1310_2	Jap_All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	NA	8.32E-06	mr1672_2	Jap_All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	4.51E-10	1.71E-18	mr1959_2	All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0330709449	8.13E-07	6.03E-11	mr1959_2	Jap_All	YES	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251