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Detailed information for vg1124001841:

Variant ID: vg1124001841 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 24001841
Reference Allele: CAlternative Allele: A
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTCCGTTCTACTCCCGGGCATCACTCTCCTGGAGCTTCCGTTGCTCCGGCCGGCGCTATCATGCCACCGGGGTTTCCGACTTTCCCTCCCAGAAGGCTTT[C/A]
CCTCCCCGTCTCCGGCCAACTCTGGTCTCCGGCCATCTCCTCGTCGGCGGGGGCAACCTAGCAGTGGACTAGCGGAAGGATCGGAAGGCCACATTCCCAG

Reverse complement sequence

CTGGGAATGTGGCCTTCCGATCCTTCCGCTAGTCCACTGCTAGGTTGCCCCCGCCGACGAGGAGATGGCCGGAGACCAGAGTTGGCCGGAGACGGGGAGG[G/T]
AAAGCCTTCTGGGAGGGAAAGTCGGAAACCCCGGTGGCATGATAGCGCCGGCCGGAGCAACGGAAGCTCCAGGAGAGTGATGCCCGGGAGTAGAACGGAA

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 55.60% 17.90% 0.23% 26.20% NA
All Indica  2759 78.40% 2.90% 0.00% 18.70% NA
All Japonica  1512 22.20% 41.40% 0.53% 35.85% NA
Aus  269 18.60% 45.40% 0.00% 36.06% NA
Indica I  595 77.50% 3.50% 0.00% 18.99% NA
Indica II  465 92.00% 0.60% 0.00% 7.31% NA
Indica III  913 72.30% 1.30% 0.00% 26.40% NA
Indica Intermediate  786 78.20% 5.50% 0.00% 16.28% NA
Temperate Japonica  767 13.40% 54.50% 0.39% 31.68% NA
Tropical Japonica  504 19.80% 34.10% 0.79% 45.24% NA
Japonica Intermediate  241 55.20% 14.90% 0.41% 29.46% NA
VI/Aromatic  96 30.20% 2.10% 1.04% 66.67% NA
Intermediate  90 56.70% 20.00% 2.22% 21.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1124001841 C -> A LOC_Os11g40249.1 5_prime_UTR_variant ; 4600.0bp to feature; MODIFIER silent_mutation Average:59.404; most accessible tissue: Zhenshan97 panicle, score: 96.214 N N N N
vg1124001841 C -> A LOC_Os11g40249.3 5_prime_UTR_variant ; 4600.0bp to feature; MODIFIER silent_mutation Average:59.404; most accessible tissue: Zhenshan97 panicle, score: 96.214 N N N N
vg1124001841 C -> A LOC_Os11g40249.4 5_prime_UTR_variant ; 4600.0bp to feature; MODIFIER silent_mutation Average:59.404; most accessible tissue: Zhenshan97 panicle, score: 96.214 N N N N
vg1124001841 C -> A LOC_Os11g40249.2 5_prime_UTR_variant ; 4600.0bp to feature; MODIFIER silent_mutation Average:59.404; most accessible tissue: Zhenshan97 panicle, score: 96.214 N N N N
vg1124001841 C -> A LOC_Os11g40230.1 upstream_gene_variant ; 2484.0bp to feature; MODIFIER silent_mutation Average:59.404; most accessible tissue: Zhenshan97 panicle, score: 96.214 N N N N
vg1124001841 C -> DEL N N silent_mutation Average:59.404; most accessible tissue: Zhenshan97 panicle, score: 96.214 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)
vg1124001841 C A -0.01 -0.01 -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
vg1124001841 6.28E-07 NA mr1102_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
vg1124001841 3.20E-07 NA mr1223_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
vg1124001841 NA 1.06E-10 mr1228_2 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
vg1124001841 NA 2.86E-07 mr1407_2 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
vg1124001841 NA 6.39E-06 mr1869_2 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