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Detailed information for vg0421350588:

Variant ID: vg0421350588 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 21350588
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GATAAATTTTGTACGGTTTTGTACGGTTTTTCACGGTTCCCGCGGTTACCGCGCGGTAACCGTGCTTACCACCGCGGTAACCGTGCTTACCGCCGGGGCG[C/T]
GGTAACCCCGGCCCCGGTGGTTTGAGAAACCGTGGGTACTAGTTATTAAAATTCTTCCGTTGCAACGGAATCCCGTTGTGTAGGAGTTCCCTTTTTCTTT

Reverse complement sequence

AAAGAAAAAGGGAACTCCTACACAACGGGATTCCGTTGCAACGGAAGAATTTTAATAACTAGTACCCACGGTTTCTCAAACCACCGGGGCCGGGGTTACC[G/A]
CGCCCCGGCGGTAAGCACGGTTACCGCGGTGGTAAGCACGGTTACCGCGCGGTAACCGCGGGAACCGTGAAAAACCGTACAAAACCGTACAAAATTTATC

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 89.80% 10.00% 0.28% 0.00% NA
All Indica  2759 96.00% 3.90% 0.07% 0.00% NA
All Japonica  1512 81.60% 17.70% 0.66% 0.00% NA
Aus  269 81.80% 18.20% 0.00% 0.00% NA
Indica I  595 92.90% 7.10% 0.00% 0.00% NA
Indica II  465 99.40% 0.60% 0.00% 0.00% NA
Indica III  913 96.70% 3.20% 0.11% 0.00% NA
Indica Intermediate  786 95.70% 4.20% 0.13% 0.00% NA
Temperate Japonica  767 86.20% 12.60% 1.17% 0.00% NA
Tropical Japonica  504 89.10% 10.90% 0.00% 0.00% NA
Japonica Intermediate  241 51.50% 48.10% 0.41% 0.00% NA
VI/Aromatic  96 61.50% 37.50% 1.04% 0.00% NA
Intermediate  90 87.80% 12.20% 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
vg0421350588 C -> T LOC_Os04g35130.1 intron_variant ; MODIFIER silent_mutation Average:94.225; most accessible tissue: Zhenshan97 flower, score: 98.549 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)
vg0421350588 C T -0.01 -0.02 -0.01 0.0 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0421350588 3.44E-06 2.71E-07 mr1072_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
vg0421350588 NA 1.50E-07 mr1075_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
vg0421350588 NA 5.03E-08 mr1149_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
vg0421350588 NA 2.87E-07 mr1441_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
vg0421350588 NA 3.03E-06 mr1595_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
vg0421350588 NA 7.93E-06 mr1600_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