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Detailed information for vg0102083545:

Variant ID: vg0102083545 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 2083545
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.97, A: 0.02, others allele: 0.00, population size: 254. )

Flanking Sequence (100 bp) in Reference Genome:


AGATAGCCGTAAAGTGGTGTTCGTGAGATCATTTTATCGTACCAAACTAATTGCGCATGGGCAGAGCTGTGCTTCGACTTGGCCACCGAGAGATACACAT[G/A]
TAATCATATACTACACACAACGCTTAAATTATTTAGCAGACAAGCCGTAAAGGCAAGGGCGAGATCAATGATCATCCCATCGATCAACCACCTAGCATTA

Reverse complement sequence

TAATGCTAGGTGGTTGATCGATGGGATGATCATTGATCTCGCCCTTGCCTTTACGGCTTGTCTGCTAAATAATTTAAGCGTTGTGTGTAGTATATGATTA[C/T]
ATGTGTATCTCTCGGTGGCCAAGTCGAAGCACAGCTCTGCCCATGCGCAATTAGTTTGGTACGATAAAATGATCTCACGAACACCACTTTACGGCTATCT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 93.20% 6.70% 0.08% 0.00% NA
All Indica  2759 94.80% 5.10% 0.11% 0.00% NA
All Japonica  1512 89.20% 10.70% 0.07% 0.00% NA
Aus  269 95.90% 4.10% 0.00% 0.00% NA
Indica I  595 98.30% 1.70% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 90.70% 9.10% 0.22% 0.00% NA
Indica Intermediate  786 94.00% 5.90% 0.13% 0.00% NA
Temperate Japonica  767 95.30% 4.70% 0.00% 0.00% NA
Tropical Japonica  504 87.50% 12.30% 0.20% 0.00% NA
Japonica Intermediate  241 73.40% 26.60% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 96.70% 3.30% 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
vg0102083545 G -> A LOC_Os01g04640.1 downstream_gene_variant ; 2005.0bp to feature; MODIFIER silent_mutation Average:93.848; most accessible tissue: Callus, score: 99.295 N N N N
vg0102083545 G -> A LOC_Os01g04650.1 downstream_gene_variant ; 136.0bp to feature; MODIFIER silent_mutation Average:93.848; most accessible tissue: Callus, score: 99.295 N N N N
vg0102083545 G -> A LOC_Os01g04640-LOC_Os01g04650 intergenic_region ; MODIFIER silent_mutation Average:93.848; most accessible tissue: Callus, score: 99.295 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)
vg0102083545 G A 0.01 0.01 0.01 -0.01 -0.01 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0102083545 4.61E-07 NA mr1023 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
vg0102083545 2.23E-06 NA mr1142 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
vg0102083545 2.17E-06 NA mr1489 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
vg0102083545 2.06E-06 NA mr1491 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
vg0102083545 1.82E-06 NA mr1548 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
vg0102083545 NA 8.40E-06 mr1745 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
vg0102083545 5.55E-06 NA mr1778 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
vg0102083545 NA 8.52E-07 mr1745_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