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Detailed information for vg0629645506:

Variant ID: vg0629645506 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 29645506
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTATAATTTATATTTTTATTATTGTTTGATGATAAAACGTGATTAATATTTTATGCGTGACTTGTCTTTTTAATTTTTTTCATATTTTTTTCAAATAAGA[C/T]
GGACGGTCAAACGTTGGACACGGAAACCAGGCTTTGTCTTTTTTTTTTATGACGGTGGGAGTACATTCACTCTTCACTGAATCATCAGACGGTCGATGCA

Reverse complement sequence

TGCATCGACCGTCTGATGATTCAGTGAAGAGTGAATGTACTCCCACCGTCATAAAAAAAAAAGACAAAGCCTGGTTTCCGTGTCCAACGTTTGACCGTCC[G/A]
TCTTATTTGAAAAAAATATGAAAAAAATTAAAAAGACAAGTCACGCATAAAATATTAATCACGTTTTATCATCAAACAATAATAAAAATATAAATTATAA

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 70.10% 24.10% 2.58% 3.22% NA
All Indica  2759 88.80% 1.70% 4.10% 5.33% NA
All Japonica  1512 29.40% 70.50% 0.00% 0.07% NA
Aus  269 96.30% 1.50% 1.86% 0.37% NA
Indica I  595 91.90% 1.30% 5.71% 1.01% NA
Indica II  465 88.00% 1.10% 4.30% 6.67% NA
Indica III  913 91.30% 0.40% 1.97% 6.24% NA
Indica Intermediate  786 84.10% 3.90% 5.22% 6.74% NA
Temperate Japonica  767 5.30% 94.70% 0.00% 0.00% NA
Tropical Japonica  504 61.70% 38.30% 0.00% 0.00% NA
Japonica Intermediate  241 38.60% 61.00% 0.00% 0.41% NA
VI/Aromatic  96 95.80% 4.20% 0.00% 0.00% NA
Intermediate  90 72.20% 20.00% 4.44% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0629645506 C -> T LOC_Os06g48940-LOC_Os06g48950 intergenic_region ; MODIFIER silent_mutation Average:74.059; most accessible tissue: Callus, score: 97.761 N N N N
vg0629645506 C -> DEL N N silent_mutation Average:74.059; most accessible tissue: Callus, score: 97.761 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)
vg0629645506 C T 0.02 0.0 0.01 0.0 0.02 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0629645506 NA 1.33E-12 mr1714 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
vg0629645506 NA 6.87E-10 mr1806_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