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Detailed information for vg0434888110:

Variant ID: vg0434888110 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 34888110
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 74. )

Flanking Sequence (100 bp) in Reference Genome:


ATGAGAGGAGTGTCCTAGTAAGAGGTGGGTGCAATTCGGTAGGTAAGGTTGGGCAGCGTGCAGGCGACCTCCCCAACAGCCTCGGCTGGTCGGTCCACAT[G/A]
GTGGCGCCGTGACATGGAGAGAAGCGGGCAGACTTGAGGGTAGAGATGGCAATGGGGACCCATAACCCAAGACCCGACAGGTTTTTATTCTACTAGAAGC

Reverse complement sequence

GCTTCTAGTAGAATAAAAACCTGTCGGGTCTTGGGTTATGGGTCCCCATTGCCATCTCTACCCTCAAGTCTGCCCGCTTCTCTCCATGTCACGGCGCCAC[C/T]
ATGTGGACCGACCAGCCGAGGCTGTTGGGGAGGTCGCCTGCACGCTGCCCAACCTTACCTACCGAATTGCACCCACCTCTTACTAGGACACTCCTCTCAT

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 45.70% 37.30% 4.93% 12.06% NA
All Indica  2759 76.40% 7.00% 4.46% 12.14% NA
All Japonica  1512 1.70% 87.00% 4.23% 7.01% NA
Aus  269 0.40% 42.80% 14.13% 42.75% NA
Indica I  595 94.60% 2.50% 0.50% 2.35% NA
Indica II  465 51.20% 6.50% 11.40% 30.97% NA
Indica III  913 82.90% 5.30% 3.40% 8.43% NA
Indica Intermediate  786 69.80% 12.80% 4.58% 12.72% NA
Temperate Japonica  767 0.40% 95.00% 1.69% 2.87% NA
Tropical Japonica  504 3.00% 91.90% 1.98% 3.17% NA
Japonica Intermediate  241 3.30% 51.50% 17.01% 28.22% NA
VI/Aromatic  96 2.10% 88.50% 4.17% 5.21% NA
Intermediate  90 24.40% 61.10% 4.44% 10.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0434888110 G -> DEL N N silent_mutation Average:61.666; most accessible tissue: Minghui63 root, score: 85.968 N N N N
vg0434888110 G -> A LOC_Os04g58650.1 upstream_gene_variant ; 2860.0bp to feature; MODIFIER silent_mutation Average:61.666; most accessible tissue: Minghui63 root, score: 85.968 N N N N
vg0434888110 G -> A LOC_Os04g58690.1 upstream_gene_variant ; 4824.0bp to feature; MODIFIER silent_mutation Average:61.666; most accessible tissue: Minghui63 root, score: 85.968 N N N N
vg0434888110 G -> A LOC_Os04g58690.2 upstream_gene_variant ; 4824.0bp to feature; MODIFIER silent_mutation Average:61.666; most accessible tissue: Minghui63 root, score: 85.968 N N N N
vg0434888110 G -> A LOC_Os04g58690.3 upstream_gene_variant ; 4824.0bp to feature; MODIFIER silent_mutation Average:61.666; most accessible tissue: Minghui63 root, score: 85.968 N N N N
vg0434888110 G -> A LOC_Os04g58690.5 upstream_gene_variant ; 4824.0bp to feature; MODIFIER silent_mutation Average:61.666; most accessible tissue: Minghui63 root, score: 85.968 N N N N
vg0434888110 G -> A LOC_Os04g58690.6 upstream_gene_variant ; 4824.0bp to feature; MODIFIER silent_mutation Average:61.666; most accessible tissue: Minghui63 root, score: 85.968 N N N N
vg0434888110 G -> A LOC_Os04g58690.4 upstream_gene_variant ; 4824.0bp to feature; MODIFIER silent_mutation Average:61.666; most accessible tissue: Minghui63 root, score: 85.968 N N N N
vg0434888110 G -> A LOC_Os04g58680.1 downstream_gene_variant ; 3709.0bp to feature; MODIFIER silent_mutation Average:61.666; most accessible tissue: Minghui63 root, score: 85.968 N N N N
vg0434888110 G -> A LOC_Os04g58650-LOC_Os04g58680 intergenic_region ; MODIFIER silent_mutation Average:61.666; most accessible tissue: Minghui63 root, score: 85.968 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)
vg0434888110 G A -0.07 -0.1 -0.09 -0.06 -0.09 -0.09

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0434888110 NA 3.10E-09 mr1064 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
vg0434888110 NA 1.44E-06 mr1114 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
vg0434888110 NA 5.45E-06 mr1117 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
vg0434888110 NA 1.41E-06 mr1123 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
vg0434888110 NA 2.42E-08 mr1534 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
vg0434888110 NA 1.77E-08 mr1693 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
vg0434888110 NA 5.13E-08 mr1745 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
vg0434888110 NA 8.90E-06 mr1961 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
vg0434888110 NA 5.40E-06 mr1113_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
vg0434888110 NA 7.91E-06 mr1691_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
vg0434888110 NA 1.43E-08 mr1745_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