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Detailed information for vg1125615644:

Variant ID: vg1125615644 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 25615644
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.98, C: 0.02, others allele: 0.00, population size: 309. )

Flanking Sequence (100 bp) in Reference Genome:


GCTAATCCTTGTTGCATGAATATACTTGATGCTGATGTACGAGTTGTCTAGTTCAATCGTGGCAATGTGAATTCTTTCACAGTTCCTGTGTTTTCTGTAG[T/C]
TGTATGTTGTATAGATATTTCTGTTGATATCTGAGTGACCGAGTGTACCTTGTGTTGATTGGGATATGGTGCAGTTTGCGCAGGCTGGGAGTGGATTACA

Reverse complement sequence

TGTAATCCACTCCCAGCCTGCGCAAACTGCACCATATCCCAATCAACACAAGGTACACTCGGTCACTCAGATATCAACAGAAATATCTATACAACATACA[A/G]
CTACAGAAAACACAGGAACTGTGAAAGAATTCACATTGCCACGATTGAACTAGACAACTCGTACATCAGCATCAAGTATATTCATGCAACAAGGATTAGC

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 77.70% 21.60% 0.02% 0.66% NA
All Indica  2759 64.40% 35.40% 0.04% 0.07% NA
All Japonica  1512 97.40% 0.70% 0.00% 1.92% NA
Aus  269 97.00% 3.00% 0.00% 0.00% NA
Indica I  595 59.70% 40.20% 0.17% 0.00% NA
Indica II  465 72.30% 27.70% 0.00% 0.00% NA
Indica III  913 60.40% 39.40% 0.00% 0.22% NA
Indica Intermediate  786 68.20% 31.80% 0.00% 0.00% NA
Temperate Japonica  767 99.10% 0.90% 0.00% 0.00% NA
Tropical Japonica  504 94.20% 0.40% 0.00% 5.36% NA
Japonica Intermediate  241 98.30% 0.80% 0.00% 0.83% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 74.40% 25.60% 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
vg1125615644 T -> DEL N N silent_mutation Average:84.696; most accessible tissue: Minghui63 flag leaf, score: 92.945 N N N N
vg1125615644 T -> C LOC_Os11g42550.1 upstream_gene_variant ; 2063.0bp to feature; MODIFIER silent_mutation Average:84.696; most accessible tissue: Minghui63 flag leaf, score: 92.945 N N N N
vg1125615644 T -> C LOC_Os11g42525.1 downstream_gene_variant ; 3493.0bp to feature; MODIFIER silent_mutation Average:84.696; most accessible tissue: Minghui63 flag leaf, score: 92.945 N N N N
vg1125615644 T -> C LOC_Os11g42530.1 downstream_gene_variant ; 1873.0bp to feature; MODIFIER silent_mutation Average:84.696; most accessible tissue: Minghui63 flag leaf, score: 92.945 N N N N
vg1125615644 T -> C LOC_Os11g42540.1 intron_variant ; MODIFIER silent_mutation Average:84.696; most accessible tissue: Minghui63 flag leaf, score: 92.945 N N N N
vg1125615644 T -> C LOC_Os11g42540.2 intron_variant ; MODIFIER silent_mutation Average:84.696; most accessible tissue: Minghui63 flag leaf, score: 92.945 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)
vg1125615644 T C 0.0 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1125615644 9.57E-19 1.49E-29 mr1191 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
vg1125615644 4.63E-17 1.12E-22 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
vg1125615644 NA 3.51E-06 mr1561 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
vg1125615644 9.78E-27 1.01E-39 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
vg1125615644 2.00E-23 2.90E-32 mr1644 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
vg1125615644 3.37E-21 4.29E-42 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
vg1125615644 4.90E-20 1.90E-31 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
vg1125615644 NA 7.97E-06 mr1561_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
vg1125615644 NA 8.00E-06 mr1745_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
vg1125615644 NA 1.27E-06 mr1875_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
vg1125615644 NA 3.17E-06 mr1908_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