Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923).

Detailed information for vg0224733131:

Variant ID: vg0224733131 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 24733131
Reference Allele: TAlternative Allele: G,A
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCGAGGTCGCGGGTGGCTTGGAGCCTTGGAGGCGAAGGACCGAATCGGAACGAAGGAACGGGACGGGGGAGTACGGGGCCGATGAGGTGGTGCGCCGTGC[T/G,A]
CGAGAGGTGATCTGATGATGAGGAGGAGGAGGAGGTGCCCGCCGCCGCCATCGGTTGGGCCGAAAAATAATGTTCCGTGGCCTTTCCTGACACGATTGCG

Reverse complement sequence

CGCAATCGTGTCAGGAAAGGCCACGGAACATTATTTTTCGGCCCAACCGATGGCGGCGGCGGGCACCTCCTCCTCCTCCTCATCATCAGATCACCTCTCG[A/C,T]
GCACGGCGCACCACCTCATCGGCCCCGTACTCCCCCGTCCCGTTCCTTCGTTCCGATTCGGTCCTTCGCCTCCAAGGCTCCAAGCCACCCGCGACCTCGA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 68.60% 31.30% 0.15% 0.00% A: 0.02%
All Indica  2759 94.90% 5.00% 0.07% 0.00% A: 0.04%
All Japonica  1512 15.90% 83.80% 0.33% 0.00% NA
Aus  269 94.10% 5.90% 0.00% 0.00% NA
Indica I  595 98.00% 2.00% 0.00% 0.00% NA
Indica II  465 98.90% 1.10% 0.00% 0.00% NA
Indica III  913 95.30% 4.60% 0.00% 0.00% A: 0.11%
Indica Intermediate  786 89.70% 10.10% 0.25% 0.00% NA
Temperate Japonica  767 7.30% 92.20% 0.52% 0.00% NA
Tropical Japonica  504 33.50% 66.50% 0.00% 0.00% NA
Japonica Intermediate  241 6.20% 93.40% 0.41% 0.00% NA
VI/Aromatic  96 77.10% 22.90% 0.00% 0.00% NA
Intermediate  90 61.10% 38.90% 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
vg0224733131 T -> A LOC_Os02g40810.1 5_prime_UTR_variant ; 221.0bp to feature; MODIFIER silent_mutation Average:98.078; most accessible tissue: Minghui63 root, score: 99.343 N N N N
vg0224733131 T -> A LOC_Os02g40820.1 downstream_gene_variant ; 4910.0bp to feature; MODIFIER silent_mutation Average:98.078; most accessible tissue: Minghui63 root, score: 99.343 N N N N
vg0224733131 T -> A LOC_Os02g40820.2 downstream_gene_variant ; 3847.0bp to feature; MODIFIER silent_mutation Average:98.078; most accessible tissue: Minghui63 root, score: 99.343 N N N N
vg0224733131 T -> G LOC_Os02g40810.1 5_prime_UTR_variant ; 221.0bp to feature; MODIFIER silent_mutation Average:98.078; most accessible tissue: Minghui63 root, score: 99.343 N N N N
vg0224733131 T -> G LOC_Os02g40820.1 downstream_gene_variant ; 4910.0bp to feature; MODIFIER silent_mutation Average:98.078; most accessible tissue: Minghui63 root, score: 99.343 N N N N
vg0224733131 T -> G LOC_Os02g40820.2 downstream_gene_variant ; 3847.0bp to feature; MODIFIER silent_mutation Average:98.078; most accessible tissue: Minghui63 root, score: 99.343 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)
vg0224733131 T A 0.08 0.13 0.08 0.07 0.07 0.07
vg0224733131 T G 0.03 0.04 0.03 0.01 0.03 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0224733131 NA 1.59E-54 Grain_width All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0224733131 NA 3.93E-46 mr1136 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
vg0224733131 NA 2.36E-89 mr1334 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
vg0224733131 NA 4.39E-33 mr1448 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
vg0224733131 NA 3.00E-10 mr1471 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
vg0224733131 NA 1.10E-15 mr1484 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
vg0224733131 NA 8.66E-28 mr1638 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
vg0224733131 NA 1.13E-13 mr1653 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
vg0224733131 NA 3.76E-10 mr1945 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
vg0224733131 NA 1.19E-06 mr1227_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
vg0224733131 NA 1.89E-99 mr1334_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
vg0224733131 NA 2.02E-28 mr1653_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
vg0224733131 NA 2.80E-18 mr1682_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
vg0224733131 NA 8.25E-07 mr1850_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
vg0224733131 NA 2.13E-32 mr1873_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
vg0224733131 NA 7.72E-12 mr1986_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
vg0224733131 NA 2.67E-60 mr1991_2 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