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Detailed information for vg1201642245:

Variant ID: vg1201642245 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 1642245
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TATATTCGTATTAGAGCCAAAAAGAATATGACGCTTCATGTTATAGATGGCCATATGGCCCGGGGCCCAACGACCCGGCCGAAGACACGACCATTTGGCC[G/A]
GGCCTAAGCACGGCATGGCCCGACAGTTGGGCTGTGCTTAGGCCAATGCCTTGGCACGGTGGGCTGGCCCGGCACGGCACGATCGAAGAAAATATTATAG

Reverse complement sequence

CTATAATATTTTCTTCGATCGTGCCGTGCCGGGCCAGCCCACCGTGCCAAGGCATTGGCCTAAGCACAGCCCAACTGTCGGGCCATGCCGTGCTTAGGCC[C/T]
GGCCAAATGGTCGTGTCTTCGGCCGGGTCGTTGGGCCCCGGGCCATATGGCCATCTATAACATGAAGCGTCATATTCTTTTTGGCTCTAATACGAATATA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 95.70% 3.20% 1.06% 0.00% NA
All Indica  2759 99.20% 0.80% 0.00% 0.00% NA
All Japonica  1512 92.70% 4.20% 3.11% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.40% 0.60% 0.00% 0.00% NA
Indica III  913 99.70% 0.30% 0.00% 0.00% NA
Indica Intermediate  786 98.10% 1.90% 0.00% 0.00% NA
Temperate Japonica  767 91.90% 2.70% 5.35% 0.00% NA
Tropical Japonica  504 97.20% 2.40% 0.40% 0.00% NA
Japonica Intermediate  241 85.50% 12.90% 1.66% 0.00% NA
VI/Aromatic  96 43.80% 55.20% 1.04% 0.00% NA
Intermediate  90 83.30% 14.40% 2.22% 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
vg1201642245 G -> A LOC_Os12g03960.1 upstream_gene_variant ; 4130.0bp to feature; MODIFIER silent_mutation Average:82.089; most accessible tissue: Zhenshan97 flower, score: 89.728 N N N N
vg1201642245 G -> A LOC_Os12g03960.2 upstream_gene_variant ; 4178.0bp to feature; MODIFIER silent_mutation Average:82.089; most accessible tissue: Zhenshan97 flower, score: 89.728 N N N N
vg1201642245 G -> A LOC_Os12g03950.1 intron_variant ; MODIFIER silent_mutation Average:82.089; most accessible tissue: Zhenshan97 flower, score: 89.728 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)
vg1201642245 G A -0.01 -0.03 -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
vg1201642245 1.77E-06 NA mr1087_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
vg1201642245 NA 4.56E-06 mr1200_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
vg1201642245 5.59E-06 1.05E-06 mr1795_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