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Detailed information for vg1124892966:

Variant ID: vg1124892966 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 24892966
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AACCACGCCTAGGACTGTGCGATTTAGATTTTTGCTCCCTGTCTTGCAGTAAAACGCAAAGTCGAAGCAGTTATTCCTCACAGTATCGTAGCTACCGAAG[T/C]
CGTTGCAGGCTAGCATTTCGTTGGCGCGTCTCAAGACCGTCTCGGGGGGGTCTTCATCATCCATGGAGCAGGTGTGTTGAGCACCAATATTGGAACTCGC

Reverse complement sequence

GCGAGTTCCAATATTGGTGCTCAACACACCTGCTCCATGGATGATGAAGACCCCCCCGAGACGGTCTTGAGACGCGCCAACGAAATGCTAGCCTGCAACG[A/G]
CTTCGGTAGCTACGATACTGTGAGGAATAACTGCTTCGACTTTGCGTTTTACTGCAAGACAGGGAGCAAAAATCTAAATCGCACAGTCCTAGGCGTGGTT

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 72.30% 23.00% 1.38% 3.34% NA
All Indica  2759 89.30% 3.70% 1.63% 5.29% NA
All Japonica  1512 40.40% 58.70% 0.26% 0.66% NA
Aus  269 88.80% 5.20% 5.95% 0.00% NA
Indica I  595 94.80% 0.80% 0.34% 4.03% NA
Indica II  465 95.90% 3.00% 0.65% 0.43% NA
Indica III  913 86.60% 4.60% 1.31% 7.45% NA
Indica Intermediate  786 84.50% 5.30% 3.56% 6.62% NA
Temperate Japonica  767 17.70% 82.30% 0.00% 0.00% NA
Tropical Japonica  504 58.50% 39.70% 0.40% 1.39% NA
Japonica Intermediate  241 74.70% 23.20% 0.83% 1.24% NA
VI/Aromatic  96 40.60% 59.40% 0.00% 0.00% NA
Intermediate  90 70.00% 27.80% 0.00% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1124892966 T -> DEL LOC_Os11g41500.1 N frameshift_variant Average:79.614; most accessible tissue: Callus, score: 91.954 N N N N
vg1124892966 T -> C LOC_Os11g41500.1 missense_variant ; p.Asp103Gly; MODERATE nonsynonymous_codon ; D103G Average:79.614; most accessible tissue: Callus, score: 91.954 benign -1.073 TOLERATED 1.00

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)
vg1124892966 T C 0.06 0.02 0.02 0.04 0.04 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1124892966 NA 2.37E-06 mr1579 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
vg1124892966 6.14E-06 6.14E-06 mr1701 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
vg1124892966 NA 4.37E-06 mr1871 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
vg1124892966 NA 9.12E-08 mr1042_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
vg1124892966 8.10E-09 NA mr1579_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
vg1124892966 6.50E-07 6.49E-07 mr1579_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
vg1124892966 NA 2.58E-06 mr1680_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
vg1124892966 NA 4.44E-07 mr1840_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
vg1124892966 NA 1.89E-09 mr1871_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