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Detailed information for vg0120143933:

Variant ID: vg0120143933 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 20143933
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATGTGGAAAGAAAAAAGAAAGATAATCTACTCCTATACTTCTAGTATACATAGCATACATACATTCTAGTTATCCGATACACTAGCTAATACCCTCTATC[C/T]
GATGCCCTTCTGGTACTTCGAGAAGCCACCCCTAACTGCCGAGTTCCTTACGACAGCCCGTCATGACCATACAACCGGGGCTAAATACGGAGGAGTACCC

Reverse complement sequence

GGGTACTCCTCCGTATTTAGCCCCGGTTGTATGGTCATGACGGGCTGTCGTAAGGAACTCGGCAGTTAGGGGTGGCTTCTCGAAGTACCAGAAGGGCATC[G/A]
GATAGAGGGTATTAGCTAGTGTATCGGATAACTAGAATGTATGTATGCTATGTATACTAGAAGTATAGGAGTAGATTATCTTTCTTTTTTCTTTCCACAT

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 89.90% 2.70% 3.94% 3.45% NA
All Indica  2759 89.30% 0.00% 4.78% 5.87% NA
All Japonica  1512 88.40% 8.30% 3.24% 0.00% NA
Aus  269 99.60% 0.00% 0.37% 0.00% NA
Indica I  595 70.30% 0.00% 10.76% 18.99% NA
Indica II  465 90.80% 0.00% 5.38% 3.87% NA
Indica III  913 98.40% 0.00% 0.99% 0.66% NA
Indica Intermediate  786 92.50% 0.00% 4.33% 3.18% NA
Temperate Japonica  767 79.50% 15.10% 5.35% 0.00% NA
Tropical Japonica  504 99.40% 0.00% 0.60% 0.00% NA
Japonica Intermediate  241 93.80% 4.10% 2.07% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 93.30% 1.10% 4.44% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0120143933 C -> T LOC_Os01g36310.1 upstream_gene_variant ; 4318.0bp to feature; MODIFIER silent_mutation Average:62.425; most accessible tissue: Minghui63 flag leaf, score: 90.673 N N N N
vg0120143933 C -> T LOC_Os01g36320.1 upstream_gene_variant ; 685.0bp to feature; MODIFIER silent_mutation Average:62.425; most accessible tissue: Minghui63 flag leaf, score: 90.673 N N N N
vg0120143933 C -> T LOC_Os01g36330.1 upstream_gene_variant ; 2076.0bp to feature; MODIFIER silent_mutation Average:62.425; most accessible tissue: Minghui63 flag leaf, score: 90.673 N N N N
vg0120143933 C -> T LOC_Os01g36320-LOC_Os01g36330 intergenic_region ; MODIFIER silent_mutation Average:62.425; most accessible tissue: Minghui63 flag leaf, score: 90.673 N N N N
vg0120143933 C -> DEL N N silent_mutation Average:62.425; most accessible tissue: Minghui63 flag leaf, score: 90.673 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)
vg0120143933 C T -0.01 -0.02 -0.02 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0120143933 2.45E-06 2.45E-06 mr1972_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