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Detailed information for vg0223272315:

Variant ID: vg0223272315 (JBrowse)	Variation Type: SNP
Chromosome: chr02	Position: 23272315
Reference Allele: C	Alternative Allele: G,A
Primary Allele: G	Secondary Allele: C

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.52, C: 0.48, others allele: 0.00, population size: 90. )

Flanking Sequence (100 bp) in Reference Genome:

CACTACTTTCCTAACTCACATCTCTTGTTTTCCACGCGCACGTTTTTTAAATTGCTAAACGGGAGTGAGGGTCAATAGTATACTACCGGTAGCATGTTCT[C/G,A]
TAAAAAGTACAATTGAAATTCGACATTTTAATTCCTTCAATTTTTTTTTATATTCTCTAACACATCTTCTCTAATAAAAGTTCATTTGAAAATTTGATAT

Reverse complement sequence

ATATCAAATTTTCAAATGAACTTTTATTAGAGAAGATGTGTTAGAGAATATAAAAAAAAATTGAAGGAATTAAAATGTCGAATTTCAATTGTACTTTTTA[G/C,T]
AGAACATGCTACCGGTAGTATACTATTGACCCTCACTCCCGTTTAGCAATTTAAAAAACGTGCGCGTGGAAAACAAGAGATGTGAGTTAGGAAAGTAGTG

Allele Frequencies:

Populations	Population Size	Frequency of G(primary allele)	Frequency of C(secondary allele)	Frequency of N	Frequency of DEL	Frequency of others Allele
All	4726	60.10%	39.50%	0.38%	0.00%	A: 0.02%
All Indica	2759	81.50%	17.90%	0.58%	0.00%	A: 0.04%
All Japonica	1512	13.10%	86.90%	0.00%	0.00%	NA
Aus	269	99.60%	0.40%	0.00%	0.00%	NA
Indica I	595	95.30%	4.40%	0.17%	0.00%	A: 0.17%
Indica II	465	95.90%	3.70%	0.43%	0.00%	NA
Indica III	913	69.20%	29.70%	1.10%	0.00%	NA
Indica Intermediate	786	76.70%	22.90%	0.38%	0.00%	NA
Temperate Japonica	767	3.90%	96.10%	0.00%	0.00%	NA
Tropical Japonica	504	14.90%	85.10%	0.00%	0.00%	NA
Japonica Intermediate	241	38.60%	61.40%	0.00%	0.00%	NA
VI/Aromatic	96	92.70%	7.30%	0.00%	0.00%	NA
Intermediate	90	42.20%	55.60%	2.22%	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
vg0223272315	C -> A	LOC_Os02g38490.1	upstream_gene_variant ; 208.0bp to feature; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> A	LOC_Os02g38490.2	upstream_gene_variant ; 208.0bp to feature; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> A	LOC_Os02g38490.4	upstream_gene_variant ; 208.0bp to feature; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> A	LOC_Os02g38490.3	upstream_gene_variant ; 232.0bp to feature; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> A	LOC_Os02g38480.1	downstream_gene_variant ; 365.0bp to feature; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> A	LOC_Os02g38480-LOC_Os02g38490	intergenic_region ; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> G	LOC_Os02g38490.1	upstream_gene_variant ; 208.0bp to feature; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> G	LOC_Os02g38490.2	upstream_gene_variant ; 208.0bp to feature; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> G	LOC_Os02g38490.4	upstream_gene_variant ; 208.0bp to feature; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> G	LOC_Os02g38490.3	upstream_gene_variant ; 232.0bp to feature; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> G	LOC_Os02g38480.1	downstream_gene_variant ; 365.0bp to feature; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	N	N	N	N
vg0223272315	C -> G	LOC_Os02g38480-LOC_Os02g38490	intergenic_region ; MODIFIER	silent_mutation	Average:77.089; most accessible tissue: Callus, score: 94.91	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)
vg0223272315	C	A	0.0	0.01	0.0	0.01	0.0	0.01
vg0223272315	C	G	-0.04	-0.01	0.01	-0.01	-0.01	-0.01

Putative Genotype-Phenotype Associations:

Var ID	LMM P-value	LR P-value	Trait	Subpopulation	Is leadSNP	Publication
vg0223272315	NA	5.61E-06	mr1064_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
vg0223272315	NA	1.65E-18	mr1146_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
vg0223272315	NA	1.17E-06	mr1509_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
vg0223272315	NA	5.20E-06	mr1519_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
vg0223272315	5.61E-07	2.02E-08	mr1546_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