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Detailed information for vg0121102807:

Variant ID: vg0121102807 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 21102807
Reference Allele: GAlternative Allele: T,A
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GAGAAGAGCTTTTAATTTATTTTCTGAATTCTACAACTACTATTTTTCATAATCTAAGTAAAATTCTGGACTGAGTTTCTAGCGGTAATAGCTTCTAGAA[G/T,A]
AATCTCCTGCTGTTAGAAACTCCTCCAAAAAGACCCTAAGTGTCATCTGTCATTTTGCTTGATATTAGGCCATCGTTAATTATTAACGATTTGTTCTTTT

Reverse complement sequence

AAAAGAACAAATCGTTAATAATTAACGATGGCCTAATATCAAGCAAAATGACAGATGACACTTAGGGTCTTTTTGGAGGAGTTTCTAACAGCAGGAGATT[C/A,T]
TTCTAGAAGCTATTACCGCTAGAAACTCAGTCCAGAATTTTACTTAGATTATGAAAAATAGTAGTTGTAGAATTCAGAAAATAAATTAAAAGCTCTTCTC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 98.20% 1.10% 0.61% 0.00% A: 0.02%
All Indica  2759 99.80% 0.00% 0.18% 0.00% NA
All Japonica  1512 95.00% 3.40% 1.59% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.80% 0.00% 0.17% 0.00% NA
Indica II  465 99.80% 0.00% 0.22% 0.00% NA
Indica III  913 99.90% 0.00% 0.11% 0.00% NA
Indica Intermediate  786 99.70% 0.00% 0.25% 0.00% NA
Temperate Japonica  767 93.70% 4.40% 1.83% 0.00% NA
Tropical Japonica  504 99.60% 0.00% 0.40% 0.00% NA
Japonica Intermediate  241 89.20% 7.50% 3.32% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 98.90% 0.00% 0.00% 0.00% A: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0121102807 G -> T LOC_Os01g37720-LOC_Os01g37740 intergenic_region ; MODIFIER silent_mutation Average:77.584; most accessible tissue: Callus, score: 93.385 N N N N
vg0121102807 G -> A LOC_Os01g37720-LOC_Os01g37740 intergenic_region ; MODIFIER silent_mutation Average:77.584; most accessible tissue: Callus, score: 93.385 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)
vg0121102807 G A 0.05 0.04 0.01 0.01 0.03 0.04
vg0121102807 G T 0.12 0.03 0.02 0.0 0.0 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0121102807 NA 7.39E-07 mr1565 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
vg0121102807 7.40E-12 7.40E-12 mr1024_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
vg0121102807 NA 1.49E-06 mr1038_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
vg0121102807 6.10E-07 2.08E-10 mr1565_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
vg0121102807 4.74E-06 4.74E-06 mr1915_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
vg0121102807 NA 2.04E-06 mr1922_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
vg0121102807 3.73E-09 3.73E-09 mr1940_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