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Detailed information for vg0432961214:

Variant ID: vg0432961214 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 32961214
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.94, T: 0.05, others allele: 0.00, population size: 191. )

Flanking Sequence (100 bp) in Reference Genome:


AAACTTTGGATCCAAACTTTCAATTTTTTCCATCACATCAACATGTCATACACATACAATTTTTCAGTCACATTGTACCAATTTCAACCCAAACTTTTAA[T/C]
TTTAGAAGGAACTAAACACAGCCTTAGTTTTAAACTTCCAACTTTTCCATCACATCAAAACTTTCCTACACACACATAAACTTCCAACTTTTCCGTCACA

Reverse complement sequence

TGTGACGGAAAAGTTGGAAGTTTATGTGTGTGTAGGAAAGTTTTGATGTGATGGAAAAGTTGGAAGTTTAAAACTAAGGCTGTGTTTAGTTCCTTCTAAA[A/G]
TTAAAAGTTTGGGTTGAAATTGGTACAATGTGACTGAAAAATTGTATGTGTATGACATGTTGATGTGATGGAAAAAATTGAAAGTTTGGATCCAAAGTTT

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 70.70% 29.10% 0.02% 0.19% NA
All Indica  2759 97.40% 2.30% 0.04% 0.22% NA
All Japonica  1512 24.70% 75.10% 0.00% 0.13% NA
Aus  269 57.60% 42.40% 0.00% 0.00% NA
Indica I  595 93.80% 5.70% 0.17% 0.34% NA
Indica II  465 98.10% 1.50% 0.00% 0.43% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 97.10% 2.70% 0.00% 0.25% NA
Temperate Japonica  767 10.80% 89.20% 0.00% 0.00% NA
Tropical Japonica  504 39.30% 60.50% 0.00% 0.20% NA
Japonica Intermediate  241 38.60% 61.00% 0.00% 0.41% NA
VI/Aromatic  96 62.50% 36.50% 0.00% 1.04% NA
Intermediate  90 68.90% 31.10% 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
vg0432961214 T -> C LOC_Os04g55410.1 upstream_gene_variant ; 1270.0bp to feature; MODIFIER silent_mutation Average:89.671; most accessible tissue: Zhenshan97 root, score: 97.213 N N N N
vg0432961214 T -> C LOC_Os04g55420.1 upstream_gene_variant ; 2058.0bp to feature; MODIFIER silent_mutation Average:89.671; most accessible tissue: Zhenshan97 root, score: 97.213 N N N N
vg0432961214 T -> C LOC_Os04g55410-LOC_Os04g55420 intergenic_region ; MODIFIER silent_mutation Average:89.671; most accessible tissue: Zhenshan97 root, score: 97.213 N N N N
vg0432961214 T -> DEL N N silent_mutation Average:89.671; most accessible tissue: Zhenshan97 root, score: 97.213 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)
vg0432961214 T C 0.0 -0.01 -0.02 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0432961214 NA 6.57E-08 mr1040 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
vg0432961214 NA 1.72E-06 mr1063_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
vg0432961214 2.37E-06 2.29E-09 mr1072_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
vg0432961214 NA 3.99E-08 mr1075_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
vg0432961214 NA 6.16E-07 mr1077_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
vg0432961214 NA 2.59E-06 mr1124_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
vg0432961214 NA 4.50E-08 mr1137_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
vg0432961214 6.16E-07 8.99E-10 mr1295_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
vg0432961214 NA 3.04E-06 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
vg0432961214 NA 1.87E-07 mr1617_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