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Detailed information for vg1125253130:

Variant ID: vg1125253130 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 25253130
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.78, T: 0.22, others allele: 0.00, population size: 113. )

Flanking Sequence (100 bp) in Reference Genome:


TAAATATTACTATTTTTTTCTACAAAATTAATCAAACTTAGAGTAGTTTGAATTTGACCAAAGTCAGAACGTCGTATAACCTGAAACGGAGGGAGTATCT[C/T]
TTTACAAGGAATAATTAACGTTTTAAAAACTTTGGCTGGTAATGATTAACAAATTAGCATTAGTGTGAGCTAGTGTGTATGTGAAGTTGTTACAGGTGGT

Reverse complement sequence

ACCACCTGTAACAACTTCACATACACACTAGCTCACACTAATGCTAATTTGTTAATCATTACCAGCCAAAGTTTTTAAAACGTTAATTATTCCTTGTAAA[G/A]
AGATACTCCCTCCGTTTCAGGTTATACGACGTTCTGACTTTGGTCAAATTCAAACTACTCTAAGTTTGATTAATTTTGTAGAAAAAAATAGTAATATTTA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 59.00% 40.20% 0.28% 0.59% NA
All Indica  2759 50.10% 49.60% 0.22% 0.04% NA
All Japonica  1512 76.70% 22.00% 0.33% 0.99% NA
Aus  269 53.90% 41.30% 0.37% 4.46% NA
Indica I  595 63.70% 36.30% 0.00% 0.00% NA
Indica II  465 9.90% 89.50% 0.65% 0.00% NA
Indica III  913 60.90% 38.90% 0.22% 0.00% NA
Indica Intermediate  786 51.10% 48.60% 0.13% 0.13% NA
Temperate Japonica  767 93.60% 5.70% 0.65% 0.00% NA
Tropical Japonica  504 49.20% 49.40% 0.00% 1.39% NA
Japonica Intermediate  241 80.10% 16.60% 0.00% 3.32% NA
VI/Aromatic  96 51.00% 49.00% 0.00% 0.00% NA
Intermediate  90 55.60% 43.30% 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
vg1125253130 C -> T LOC_Os11g41990.1 upstream_gene_variant ; 363.0bp to feature; MODIFIER silent_mutation Average:81.133; most accessible tissue: Minghui63 root, score: 94.189 N N N N
vg1125253130 C -> T LOC_Os11g42000.1 upstream_gene_variant ; 4754.0bp to feature; MODIFIER silent_mutation Average:81.133; most accessible tissue: Minghui63 root, score: 94.189 N N N N
vg1125253130 C -> T LOC_Os11g41990.2 upstream_gene_variant ; 363.0bp to feature; MODIFIER silent_mutation Average:81.133; most accessible tissue: Minghui63 root, score: 94.189 N N N N
vg1125253130 C -> T LOC_Os11g41990-LOC_Os11g42000 intergenic_region ; MODIFIER silent_mutation Average:81.133; most accessible tissue: Minghui63 root, score: 94.189 N N N N
vg1125253130 C -> DEL N N silent_mutation Average:81.133; most accessible tissue: Minghui63 root, score: 94.189 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)
vg1125253130 C T -0.03 0.0 0.0 -0.01 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1125253130 1.35E-16 1.32E-22 mr1191 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
vg1125253130 3.89E-14 7.23E-13 mr1191 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
vg1125253130 2.50E-24 3.18E-30 mr1644 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
vg1125253130 1.02E-20 1.91E-16 mr1644 Ind_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
vg1125253130 5.66E-06 NA mr1662 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
vg1125253130 NA 2.24E-07 mr1662 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
vg1125253130 4.61E-23 1.06E-30 mr1191_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
vg1125253130 5.01E-18 1.59E-15 mr1191_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
vg1125253130 NA 9.18E-09 mr1662_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
vg1125253130 1.71E-06 1.42E-08 mr1662_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
vg1125253130 NA 4.34E-07 mr1933_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