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Detailed information for vg0605814911:

Variant ID: vg0605814911 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 5814911
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, T: 0.00, others allele: 0.00, population size: 245. )

Flanking Sequence (100 bp) in Reference Genome:


GCCTGCTAGTACTCCCTCAGTCCCATAATACAAGGGATTATGGGTAGATGTGACACATCCTAATACAATGAATCTGGACGTCTCACATCTGTCCAAAATC[C/T]
CTTATATTATGGGACGGAGGGAGTACTACTACCAATTGTTGACTTTGTGAATCTAATCAAGTTCAGAGAGCCAACTACAAGTATATGTCATGGGTAGTGG

Reverse complement sequence

CCACTACCCATGACATATACTTGTAGTTGGCTCTCTGAACTTGATTAGATTCACAAAGTCAACAATTGGTAGTAGTACTCCCTCCGTCCCATAATATAAG[G/A]
GATTTTGGACAGATGTGAGACGTCCAGATTCATTGTATTAGGATGTGTCACATCTACCCATAATCCCTTGTATTATGGGACTGAGGGAGTACTAGCAGGC

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 92.10% 4.80% 3.13% 0.00% NA
All Indica  2759 97.00% 2.50% 0.47% 0.00% NA
All Japonica  1512 87.80% 3.50% 8.66% 0.00% NA
Aus  269 95.90% 4.10% 0.00% 0.00% NA
Indica I  595 98.50% 0.00% 1.51% 0.00% NA
Indica II  465 98.30% 1.70% 0.00% 0.00% NA
Indica III  913 95.80% 4.20% 0.00% 0.00% NA
Indica Intermediate  786 96.60% 2.90% 0.51% 0.00% NA
Temperate Japonica  767 80.10% 5.30% 14.60% 0.00% NA
Tropical Japonica  504 99.40% 0.00% 0.60% 0.00% NA
Japonica Intermediate  241 88.40% 5.00% 6.64% 0.00% NA
VI/Aromatic  96 12.50% 87.50% 0.00% 0.00% NA
Intermediate  90 85.60% 10.00% 4.44% 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
vg0605814911 C -> T LOC_Os06g11090.1 3_prime_UTR_variant ; 393.0bp to feature; MODIFIER silent_mutation Average:89.596; most accessible tissue: Zhenshan97 young leaf, score: 98.932 N N N N
vg0605814911 C -> T LOC_Os06g11100.1 upstream_gene_variant ; 2347.0bp to feature; MODIFIER silent_mutation Average:89.596; most accessible tissue: Zhenshan97 young leaf, score: 98.932 N N N N
vg0605814911 C -> T LOC_Os06g11070.1 downstream_gene_variant ; 3700.0bp to feature; MODIFIER silent_mutation Average:89.596; most accessible tissue: Zhenshan97 young leaf, score: 98.932 N N N N
vg0605814911 C -> T LOC_Os06g11080.1 downstream_gene_variant ; 1911.0bp to feature; MODIFIER silent_mutation Average:89.596; most accessible tissue: Zhenshan97 young leaf, score: 98.932 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)
vg0605814911 C T 0.0 -0.04 -0.04 -0.02 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0605814911 NA 4.15E-09 mr1354 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
vg0605814911 1.37E-06 NA mr1828 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
vg0605814911 NA 8.17E-09 mr1829 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
vg0605814911 NA 7.94E-06 mr1169_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
vg0605814911 NA 3.12E-07 mr1567_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
vg0605814911 NA 2.60E-13 mr1829_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