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Detailed information for vg0433003871:

Variant ID: vg0433003871 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 33003871
Reference Allele: CAlternative Allele: A
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.93, A: 0.07, others allele: 0.00, population size: 111. )

Flanking Sequence (100 bp) in Reference Genome:


TTGGTGGGTAACGACAGCGTCGCGTACTCCTCTCCTCTCCTCTCACATGTGTCCGGCAATGGCGGGGTTGACTCATGGCCATGGCGTCACGCGCCAATTT[C/A]
CCGGACGCGCGAGAGAGGGAGATAGAGAGAGGGCAAGTTGTCCTGGACAACCCACCCAGGCGCACGGCACGATGAGCTGTGAATTGTTGTGATTCCCAGT

Reverse complement sequence

ACTGGGAATCACAACAATTCACAGCTCATCGTGCCGTGCGCCTGGGTGGGTTGTCCAGGACAACTTGCCCTCTCTCTATCTCCCTCTCTCGCGCGTCCGG[G/T]
AAATTGGCGCGTGACGCCATGGCCATGAGTCAACCCCGCCATTGCCGGACACATGTGAGAGGAGAGGAGAGGAGTACGCGACGCTGTCGTTACCCACCAA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 65.90% 34.10% 0.04% 0.00% NA
All Indica  2759 95.70% 4.30% 0.00% 0.00% NA
All Japonica  1512 14.00% 85.90% 0.07% 0.00% NA
Aus  269 53.50% 46.50% 0.00% 0.00% NA
Indica I  595 94.30% 5.70% 0.00% 0.00% NA
Indica II  465 98.10% 1.90% 0.00% 0.00% NA
Indica III  913 94.60% 5.40% 0.00% 0.00% NA
Indica Intermediate  786 96.40% 3.60% 0.00% 0.00% NA
Temperate Japonica  767 0.80% 99.20% 0.00% 0.00% NA
Tropical Japonica  504 37.90% 62.10% 0.00% 0.00% NA
Japonica Intermediate  241 6.20% 93.40% 0.41% 0.00% NA
VI/Aromatic  96 68.80% 30.20% 1.04% 0.00% NA
Intermediate  90 58.90% 41.10% 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
vg0433003871 C -> A LOC_Os04g55480.1 upstream_gene_variant ; 4089.0bp to feature; MODIFIER silent_mutation Average:90.078; most accessible tissue: Zhenshan97 panicle, score: 98.272 N N N N
vg0433003871 C -> A LOC_Os04g55500.1 upstream_gene_variant ; 2453.0bp to feature; MODIFIER silent_mutation Average:90.078; most accessible tissue: Zhenshan97 panicle, score: 98.272 N N N N
vg0433003871 C -> A LOC_Os04g55480.2 upstream_gene_variant ; 4089.0bp to feature; MODIFIER silent_mutation Average:90.078; most accessible tissue: Zhenshan97 panicle, score: 98.272 N N N N
vg0433003871 C -> A LOC_Os04g55490.1 downstream_gene_variant ; 864.0bp to feature; MODIFIER silent_mutation Average:90.078; most accessible tissue: Zhenshan97 panicle, score: 98.272 N N N N
vg0433003871 C -> A LOC_Os04g55490-LOC_Os04g55500 intergenic_region ; MODIFIER silent_mutation Average:90.078; most accessible tissue: Zhenshan97 panicle, score: 98.272 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)
vg0433003871 C A -0.29 -0.17 -0.09 0.07 -0.1 -0.11

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0433003871 NA 1.18E-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
vg0433003871 NA 3.85E-06 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
vg0433003871 NA 3.84E-06 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
vg0433003871 NA 7.48E-08 mr1097_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
vg0433003871 3.88E-06 NA mr1146_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
vg0433003871 NA 6.27E-07 mr1243_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
vg0433003871 NA 2.15E-06 mr1248_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
vg0433003871 NA 3.43E-06 mr1252_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
vg0433003871 NA 6.33E-06 mr1253_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
vg0433003871 NA 6.46E-08 mr1295_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
vg0433003871 NA 1.07E-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
vg0433003871 NA 3.42E-06 mr1567_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
vg0433003871 NA 2.92E-08 mr1800_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