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Detailed information for vg0432040936:

Variant ID: vg0432040936 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 32040936
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTGCTAGCTAAGCGTACGTTTCTGATTAATGATAGATTCTAGAAAAAGAAAACAGGTCCCATATCGATCAAGCGGGCTGATTTAATACTCCCTCCTTCTC[A/T]
AAATGTTTCCGTTGACTTTTTTAAATATGTTTGTACATGACTCCATAGAACGATGACGACGACGTCTGTGCTGCAACCAGAAAAATACAAGAGAAGAAAC

Reverse complement sequence

GTTTCTTCTCTTGTATTTTTCTGGTTGCAGCACAGACGTCGTCGTCATCGTTCTATGGAGTCATGTACAAACATATTTAAAAAAGTCAACGGAAACATTT[T/A]
GAGAAGGAGGGAGTATTAAATCAGCCCGCTTGATCGATATGGGACCTGTTTTCTTTTTCTAGAATCTATCATTAATCAGAAACGTACGCTTAGCTAGCAG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 47.10% 44.40% 4.10% 4.46% NA
All Indica  2759 31.90% 53.90% 6.67% 7.50% NA
All Japonica  1512 71.90% 27.70% 0.26% 0.13% NA
Aus  269 62.80% 36.10% 1.12% 0.00% NA
Indica I  595 31.10% 52.30% 11.43% 5.21% NA
Indica II  465 44.30% 44.70% 4.52% 6.45% NA
Indica III  913 31.70% 53.80% 4.93% 9.64% NA
Indica Intermediate  786 25.40% 60.80% 6.36% 7.38% NA
Temperate Japonica  767 94.70% 5.20% 0.13% 0.00% NA
Tropical Japonica  504 29.60% 69.40% 0.60% 0.40% NA
Japonica Intermediate  241 88.00% 12.00% 0.00% 0.00% NA
VI/Aromatic  96 46.90% 53.10% 0.00% 0.00% NA
Intermediate  90 47.80% 46.70% 3.33% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0432040936 A -> DEL N N silent_mutation Average:92.51; most accessible tissue: Minghui63 young leaf, score: 96.619 N N N N
vg0432040936 A -> T LOC_Os04g53760.1 upstream_gene_variant ; 1814.0bp to feature; MODIFIER silent_mutation Average:92.51; most accessible tissue: Minghui63 young leaf, score: 96.619 N N N N
vg0432040936 A -> T LOC_Os04g53770.1 upstream_gene_variant ; 2597.0bp to feature; MODIFIER silent_mutation Average:92.51; most accessible tissue: Minghui63 young leaf, score: 96.619 N N N N
vg0432040936 A -> T LOC_Os04g53760.2 upstream_gene_variant ; 1814.0bp to feature; MODIFIER silent_mutation Average:92.51; most accessible tissue: Minghui63 young leaf, score: 96.619 N N N N
vg0432040936 A -> T LOC_Os04g53760-LOC_Os04g53770 intergenic_region ; MODIFIER silent_mutation Average:92.51; most accessible tissue: Minghui63 young leaf, score: 96.619 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)
vg0432040936 A T 0.04 0.02 0.02 0.0 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0432040936 NA 6.71E-06 mr1063 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
vg0432040936 NA 2.16E-07 mr1206 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
vg0432040936 NA 5.41E-07 mr1236 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
vg0432040936 NA 7.20E-06 mr1206_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
vg0432040936 NA 7.32E-07 mr1236_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
vg0432040936 NA 2.46E-06 mr1277_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
vg0432040936 NA 1.57E-07 mr1498_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
vg0432040936 NA 7.97E-17 mr1699_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
vg0432040936 NA 5.61E-06 mr1815_2 Ind_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