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Detailed information for vg0430022022:

Variant ID: vg0430022022 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 30022022
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.87, T: 0.13, others allele: 0.00, population size: 108. )

Flanking Sequence (100 bp) in Reference Genome:


CAGATCTGTAGGGTGTAGCTGACTAGCTGCGTGTGTTACTACCTACTACTCATACATACTCCCTCCGTTCCAAATTGATCTACATATTTCATAGGTACAC[T/C]
AAGACCAAGAAAAAATAATAACTCTCTCGTACTATATTTAGGCCATGTTTGATTCAACTTAGGATTATTATAATCTGAATTATTAGGAGTAAGCTGAAAC

Reverse complement sequence

GTTTCAGCTTACTCCTAATAATTCAGATTATAATAATCCTAAGTTGAATCAAACATGGCCTAAATATAGTACGAGAGAGTTATTATTTTTTCTTGGTCTT[A/G]
GTGTACCTATGAAATATGTAGATCAATTTGGAACGGAGGGAGTATGTATGAGTAGTAGGTAGTAACACACGCAGCTAGTCAGCTACACCCTACAGATCTG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 50.10% 49.30% 0.42% 0.15% NA
All Indica  2759 54.80% 44.30% 0.65% 0.25% NA
All Japonica  1512 52.30% 47.60% 0.07% 0.00% NA
Aus  269 10.40% 89.60% 0.00% 0.00% NA
Indica I  595 75.60% 24.40% 0.00% 0.00% NA
Indica II  465 22.20% 77.20% 0.22% 0.43% NA
Indica III  913 58.60% 40.70% 0.66% 0.00% NA
Indica Intermediate  786 53.90% 44.00% 1.40% 0.64% NA
Temperate Japonica  767 91.50% 8.50% 0.00% 0.00% NA
Tropical Japonica  504 7.70% 92.10% 0.20% 0.00% NA
Japonica Intermediate  241 20.70% 79.30% 0.00% 0.00% NA
VI/Aromatic  96 9.40% 90.60% 0.00% 0.00% NA
Intermediate  90 32.20% 66.70% 1.11% 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
vg0430022022 T -> C LOC_Os04g50750.1 upstream_gene_variant ; 314.0bp to feature; MODIFIER silent_mutation Average:60.567; most accessible tissue: Callus, score: 82.664 N N N N
vg0430022022 T -> C LOC_Os04g50740.1 downstream_gene_variant ; 949.0bp to feature; MODIFIER silent_mutation Average:60.567; most accessible tissue: Callus, score: 82.664 N N N N
vg0430022022 T -> C LOC_Os04g50760.1 downstream_gene_variant ; 714.0bp to feature; MODIFIER silent_mutation Average:60.567; most accessible tissue: Callus, score: 82.664 N N N N
vg0430022022 T -> C LOC_Os04g50750-LOC_Os04g50760 intergenic_region ; MODIFIER silent_mutation Average:60.567; most accessible tissue: Callus, score: 82.664 N N N N
vg0430022022 T -> DEL N N silent_mutation Average:60.567; most accessible tissue: Callus, score: 82.664 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)
vg0430022022 T C -0.01 0.01 0.01 0.01 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0430022022 NA 3.15E-07 mr1169 Ind_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
vg0430022022 1.43E-07 2.18E-11 mr1174 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
vg0430022022 3.95E-08 7.33E-17 mr1174 Ind_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
vg0430022022 4.92E-06 3.09E-09 mr1347 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
vg0430022022 NA 3.53E-11 mr1347 Ind_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
vg0430022022 NA 4.58E-07 mr1406 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
vg0430022022 NA 8.79E-07 mr1406 Ind_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
vg0430022022 NA 1.24E-08 mr1593 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
vg0430022022 NA 9.03E-09 mr1042_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
vg0430022022 NA 1.15E-12 mr1087_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
vg0430022022 NA 1.12E-06 mr1096_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
vg0430022022 4.79E-06 8.97E-10 mr1174_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
vg0430022022 1.48E-08 4.99E-20 mr1174_2 Ind_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
vg0430022022 1.21E-07 3.92E-14 mr1347_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
vg0430022022 6.66E-10 1.22E-22 mr1347_2 Ind_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
vg0430022022 NA 1.67E-06 mr1404_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
vg0430022022 NA 1.46E-06 mr1406_2 Ind_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
vg0430022022 NA 8.82E-08 mr1502_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
vg0430022022 NA 1.98E-08 mr1502_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
vg0430022022 NA 4.80E-09 mr1543_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
vg0430022022 NA 9.13E-12 mr1543_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
vg0430022022 NA 9.11E-07 mr1558_2 Ind_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
vg0430022022 NA 1.62E-07 mr1680_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
vg0430022022 NA 2.79E-10 mr1742_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
vg0430022022 NA 2.55E-09 mr1871_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