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Detailed information for vg0623064422:

Variant ID: vg0623064422 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 23064422
Reference Allele: TAlternative Allele: G
Primary Allele: TSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTAATTTCAGACAATATTATAATTTATTTTTCTTCTATCCGTGGCGGACCCAAGATTGGTTCAAGGCCCGAGCCAGCCCATATGGAGATTTAGGCCTTAT[T/G]
TGTTGTTTACATGGTGAAAAAATTATCATCTTAATGGACCTTCACACCTAGACCTTGGATCACGGCCCAGGTGGCCCAAGGCCTAGGTCCATCCCAGTCT

Reverse complement sequence

AGACTGGGATGGACCTAGGCCTTGGGCCACCTGGGCCGTGATCCAAGGTCTAGGTGTGAAGGTCCATTAAGATGATAATTTTTTCACCATGTAAACAACA[A/C]
ATAAGGCCTAAATCTCCATATGGGCTGGCTCGGGCCTTGAACCAATCTTGGGTCCGCCACGGATAGAAGAAAAATAAATTATAATATTGTCTGAAATTAA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 68.10% 10.60% 6.43% 14.83% NA
All Indica  2759 64.50% 14.50% 8.23% 12.79% NA
All Japonica  1512 83.70% 2.20% 0.66% 13.49% NA
Aus  269 27.10% 12.30% 24.16% 36.43% NA
Indica I  595 79.30% 0.70% 6.72% 13.28% NA
Indica II  465 72.90% 10.80% 7.53% 8.82% NA
Indica III  913 49.50% 25.40% 10.84% 14.24% NA
Indica Intermediate  786 65.80% 14.40% 6.74% 13.10% NA
Temperate Japonica  767 81.20% 3.50% 0.39% 14.86% NA
Tropical Japonica  504 88.30% 0.60% 0.60% 10.52% NA
Japonica Intermediate  241 81.70% 1.20% 1.66% 15.35% NA
VI/Aromatic  96 33.30% 30.20% 1.04% 35.42% NA
Intermediate  90 75.60% 10.00% 1.11% 13.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0623064422 T -> G LOC_Os06g38870.1 upstream_gene_variant ; 2187.0bp to feature; MODIFIER silent_mutation Average:90.832; most accessible tissue: Zhenshan97 young leaf, score: 97.498 N N N N
vg0623064422 T -> G LOC_Os06g38850-LOC_Os06g38870 intergenic_region ; MODIFIER silent_mutation Average:90.832; most accessible tissue: Zhenshan97 young leaf, score: 97.498 N N N N
vg0623064422 T -> DEL N N silent_mutation Average:90.832; most accessible tissue: Zhenshan97 young leaf, score: 97.498 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)
vg0623064422 T G 0.16 0.17 0.11 0.17 0.15 0.15

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0623064422 NA 4.29E-06 mr1057 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
vg0623064422 1.56E-08 9.32E-11 mr1057_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