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Detailed information for vg1216855801:

Variant ID: vg1216855801 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 16855801
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATATGGTGCAAAGGTGGGATTCTACCCCAGGCTGTTAGGATAGATGCAAACCTTGCCAACCACTAGGCTAAGTTAGCTGTTTTGACTAGAAGACAACACA[G/A]
AATATACTTAGCCAATAAACCGTGGTTCAACCAGTGACCCACCGGTTGAACCGATAGACCGGTGAACCAAACACTCCACCGGATCAATGACCGGTCCGGT

Reverse complement sequence

ACCGGACCGGTCATTGATCCGGTGGAGTGTTTGGTTCACCGGTCTATCGGTTCAACCGGTGGGTCACTGGTTGAACCACGGTTTATTGGCTAAGTATATT[C/T]
TGTGTTGTCTTCTAGTCAAAACAGCTAACTTAGCCTAGTGGTTGGCAAGGTTTGCATCTATCCTAACAGCCTGGGGTAGAATCCCACCTTTGCACCATAT

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 21.90% 18.20% 8.10% 51.82% NA
All Indica  2759 8.20% 26.80% 11.82% 53.17% NA
All Japonica  1512 50.80% 0.50% 0.40% 48.35% NA
Aus  269 3.00% 26.80% 10.78% 59.48% NA
Indica I  595 19.70% 10.80% 7.56% 62.02% NA
Indica II  465 5.40% 25.40% 19.35% 49.89% NA
Indica III  913 0.80% 36.80% 10.84% 51.59% NA
Indica Intermediate  786 9.90% 28.10% 11.70% 50.25% NA
Temperate Japonica  767 85.30% 0.00% 0.00% 14.73% NA
Tropical Japonica  504 5.80% 1.00% 0.60% 92.66% NA
Japonica Intermediate  241 35.30% 0.80% 1.24% 62.66% NA
VI/Aromatic  96 0.00% 30.20% 14.58% 55.21% NA
Intermediate  90 35.60% 13.30% 8.89% 42.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1216855801 G -> DEL N N silent_mutation Average:98.467; most accessible tissue: Zhenshan97 root, score: 99.209 N N N N
vg1216855801 G -> A LOC_Os12g28520.1 upstream_gene_variant ; 2845.0bp to feature; MODIFIER silent_mutation Average:98.467; most accessible tissue: Zhenshan97 root, score: 99.209 N N N N
vg1216855801 G -> A LOC_Os12g28520-LOC_Os12g28540 intergenic_region ; MODIFIER silent_mutation Average:98.467; most accessible tissue: Zhenshan97 root, score: 99.209 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)
vg1216855801 G A -0.15 -0.12 -0.08 -0.1 -0.09 -0.09

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1216855801 NA 3.40E-06 mr1024 Ind_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
vg1216855801 NA 2.28E-06 mr1815 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
vg1216855801 NA 1.05E-06 mr1195_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
vg1216855801 NA 7.74E-06 mr1268_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