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Detailed information for vg0430855895:

Variant ID: vg0430855895 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 30855895
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CAAAGCGGTGGATGGAGAGAACGAGCGATGAAATGGAGGAGAAGAAGCCAAAGTCAAAGCCAAAAGCCAAAAGTCAAAGTGTGTCTCGAATTCATGGATG[C/T]
GGAAAAATTAGCTCTAAATCCTCCCAGATTCCAGAGATAAGCGCGTGGTTTGAGGATTTTGCCAGCCTTGAATTGAAAGCGCAGTTTTAGACAATTTCTT

Reverse complement sequence

AAGAAATTGTCTAAAACTGCGCTTTCAATTCAAGGCTGGCAAAATCCTCAAACCACGCGCTTATCTCTGGAATCTGGGAGGATTTAGAGCTAATTTTTCC[G/A]
CATCCATGAATTCGAGACACACTTTGACTTTTGGCTTTTGGCTTTGACTTTGGCTTCTTCTCCTCCATTTCATCGCTCGTTCTCTCCATCCACCGCTTTG

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 91.80% 8.10% 0.11% 0.00% NA
All Indica  2759 99.40% 0.60% 0.00% 0.00% NA
All Japonica  1512 78.00% 21.70% 0.26% 0.00% NA
Aus  269 90.00% 10.00% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 99.60% 0.40% 0.00% 0.00% NA
Indica III  913 99.60% 0.40% 0.00% 0.00% NA
Indica Intermediate  786 98.90% 1.10% 0.00% 0.00% NA
Temperate Japonica  767 98.60% 1.40% 0.00% 0.00% NA
Tropical Japonica  504 41.90% 57.50% 0.60% 0.00% NA
Japonica Intermediate  241 88.40% 11.20% 0.41% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 85.60% 13.30% 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
vg0430855895 C -> T LOC_Os04g51970.1 5_prime_UTR_variant ; 1999.0bp to feature; MODIFIER silent_mutation Average:97.918; most accessible tissue: Minghui63 flower, score: 99.015 N N N N
vg0430855895 C -> T LOC_Os04g51970.2 5_prime_UTR_variant ; 1999.0bp to feature; MODIFIER silent_mutation Average:97.918; most accessible tissue: Minghui63 flower, score: 99.015 N N N N
vg0430855895 C -> T LOC_Os04g51980.1 upstream_gene_variant ; 4712.0bp to feature; MODIFIER silent_mutation Average:97.918; most accessible tissue: Minghui63 flower, score: 99.015 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)
vg0430855895 C T -0.01 0.0 -0.01 -0.02 -0.02 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0430855895 NA 1.61E-08 mr1248 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
vg0430855895 2.33E-06 NA mr1301 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
vg0430855895 4.13E-10 NA mr1745 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
vg0430855895 NA 6.79E-08 mr1090_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
vg0430855895 NA 4.74E-06 mr1211_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
vg0430855895 NA 3.87E-07 mr1321_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
vg0430855895 NA 1.48E-08 mr1696_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
vg0430855895 2.84E-20 NA mr1745_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
vg0430855895 8.86E-09 4.03E-06 mr1745_2 Jap_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