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Detailed information for vg0429480824:

Variant ID: vg0429480824 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 29480824
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.90, A: 0.10, others allele: 0.00, population size: 213. )

Flanking Sequence (100 bp) in Reference Genome:


CCGGTCACCGCCGCCACACTCATCTCTCGAGAGCTCCACGGATAGCCAGGTGCAGAAGCTCGTCGCCTAACTCCTTGATGTCGTCGTCCTCGTCACCTTC[G/A]
TCCTCGTCGCGCTCTACTGCTACAGCTGCACGGGCTTCCTTAAGAACTACAAGTGCTTCTCCACTTTCTTTGTCCTCTTCTTCATGGGCGGCGCCATCGC

Reverse complement sequence

GCGATGGCGCCGCCCATGAAGAAGAGGACAAAGAAAGTGGAGAAGCACTTGTAGTTCTTAAGGAAGCCCGTGCAGCTGTAGCAGTAGAGCGCGACGAGGA[C/T]
GAAGGTGACGAGGACGACGACATCAAGGAGTTAGGCGACGAGCTTCTGCACCTGGCTATCCGTGGAGCTCTCGAGAGATGAGTGTGGCGGCGGTGACCGG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 56.50% 43.10% 0.04% 0.36% NA
All Indica  2759 91.40% 8.00% 0.07% 0.47% NA
All Japonica  1512 0.60% 99.40% 0.00% 0.00% NA
Aus  269 23.80% 76.20% 0.00% 0.00% NA
Indica I  595 97.30% 2.20% 0.00% 0.50% NA
Indica II  465 95.50% 3.70% 0.22% 0.65% NA
Indica III  913 86.90% 12.80% 0.00% 0.33% NA
Indica Intermediate  786 89.90% 9.40% 0.13% 0.51% NA
Temperate Japonica  767 0.40% 99.60% 0.00% 0.00% NA
Tropical Japonica  504 0.60% 99.40% 0.00% 0.00% NA
Japonica Intermediate  241 1.20% 98.80% 0.00% 0.00% NA
VI/Aromatic  96 37.50% 61.50% 0.00% 1.04% NA
Intermediate  90 42.20% 54.40% 0.00% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0429480824 G -> DEL LOC_Os04g49394.1 N frameshift_variant Average:81.747; most accessible tissue: Callus, score: 96.095 N N N N
vg0429480824 G -> A LOC_Os04g49394.1 synonymous_variant ; p.Asp78Asp; LOW synonymous_codon Average:81.747; most accessible tissue: Callus, score: 96.095 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)
vg0429480824 G A -0.05 -0.04 -0.04 -0.03 -0.04 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0429480824 NA 2.17E-21 mr1051 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
vg0429480824 NA 3.41E-06 mr1076 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
vg0429480824 NA 4.25E-06 mr1103 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
vg0429480824 NA 9.73E-06 mr1104 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
vg0429480824 NA 5.04E-15 mr1156 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
vg0429480824 NA 4.91E-12 mr1169 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
vg0429480824 NA 1.16E-18 mr1253 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
vg0429480824 NA 2.98E-10 mr1316 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
vg0429480824 NA 4.67E-09 mr1342 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
vg0429480824 NA 5.37E-07 mr1560 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
vg0429480824 NA 5.42E-39 mr1620 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
vg0429480824 NA 1.57E-07 mr1666 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
vg0429480824 NA 9.88E-58 mr1671 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
vg0429480824 NA 7.93E-22 mr1689 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
vg0429480824 NA 9.73E-13 mr1819 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
vg0429480824 NA 1.41E-11 mr1938 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
vg0429480824 NA 4.56E-21 mr1253_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
vg0429480824 NA 8.80E-12 mr1666_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