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Detailed information for vg1203760773:

Variant ID: vg1203760773 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 3760773
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATCGCTAATTAAATCGGCATTGAACCGGTATCGATCATTGCATGAGCAAGAGCGCTCCGCTGCCGCGCGGTCTCGCGCGATACTGCCCGCGACGTCATTT[C/T]
CACGTCACTTTTGCGCAACGGTTGTACGAGACCGATGGTATATTTTTGTAAAAAATTTTGCATCCCGAATATTCCTGAGAAAAAAAATTGAATGAATAGT

Reverse complement sequence

ACTATTCATTCAATTTTTTTTCTCAGGAATATTCGGGATGCAAAATTTTTTACAAAAATATACCATCGGTCTCGTACAACCGTTGCGCAAAAGTGACGTG[G/A]
AAATGACGTCGCGGGCAGTATCGCGCGAGACCGCGCGGCAGCGGAGCGCTCTTGCTCATGCAATGATCGATACCGGTTCAATGCCGATTTAATTAGCGAT

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 72.20% 27.50% 0.34% 0.00% NA
All Indica  2759 98.40% 1.50% 0.11% 0.00% NA
All Japonica  1512 24.70% 74.50% 0.79% 0.00% NA
Aus  269 92.60% 7.10% 0.37% 0.00% NA
Indica I  595 99.70% 0.30% 0.00% 0.00% NA
Indica II  465 98.90% 1.10% 0.00% 0.00% NA
Indica III  913 98.10% 1.80% 0.11% 0.00% NA
Indica Intermediate  786 97.50% 2.30% 0.25% 0.00% NA
Temperate Japonica  767 33.80% 65.20% 1.04% 0.00% NA
Tropical Japonica  504 10.70% 88.70% 0.60% 0.00% NA
Japonica Intermediate  241 25.30% 74.30% 0.41% 0.00% NA
VI/Aromatic  96 22.90% 77.10% 0.00% 0.00% NA
Intermediate  90 55.60% 44.40% 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
vg1203760773 C -> T LOC_Os12g07540.1 downstream_gene_variant ; 2222.0bp to feature; MODIFIER silent_mutation Average:81.75; most accessible tissue: Minghui63 young leaf, score: 94.027 N N N N
vg1203760773 C -> T LOC_Os12g07550.1 downstream_gene_variant ; 937.0bp to feature; MODIFIER silent_mutation Average:81.75; most accessible tissue: Minghui63 young leaf, score: 94.027 N N N N
vg1203760773 C -> T LOC_Os12g07540-LOC_Os12g07550 intergenic_region ; MODIFIER silent_mutation Average:81.75; most accessible tissue: Minghui63 young leaf, score: 94.027 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)
vg1203760773 C T 0.1 0.14 0.11 0.0 0.04 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1203760773 NA 2.31E-07 mr1002 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
vg1203760773 NA 2.85E-11 mr1070 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
vg1203760773 NA 6.41E-11 mr1128 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
vg1203760773 4.19E-07 NA mr1002_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
vg1203760773 NA 5.02E-11 mr1002_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
vg1203760773 NA 8.59E-15 mr1148_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
vg1203760773 NA 9.81E-09 mr1222_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
vg1203760773 NA 5.62E-07 mr1548_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