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Detailed information for vg1123390040:

Variant ID: vg1123390040 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 23390040
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGATGCCAGAATGGCGGCAGCCGCGAAGGAGGAGATGGAGGGAGTACTAAGGGCGATGGATCGTCTTCCCGGTAGGATATCCGATCTGCTCCGGTCGGAG[C/A]
GTGGGCACGCCGGCCTCTCCGTCCTCGCCCGCCGTGGCTTCGTCTTCACGGAGACGGAGCTGAGCAGCCTTGTTGCAGCACTGCGGCAGCTGCTGGCATC

Reverse complement sequence

GATGCCAGCAGCTGCCGCAGTGCTGCAACAAGGCTGCTCAGCTCCGTCTCCGTGAAGACGAAGCCACGGCGGGCGAGGACGGAGAGGCCGGCGTGCCCAC[G/T]
CTCCGACCGGAGCAGATCGGATATCCTACCGGGAAGACGATCCATCGCCCTTAGTACTCCCTCCATCTCCTCCTTCGCGGCTGCCGCCATTCTGGCATCT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 45.50% 1.40% 1.21% 51.99% NA
All Indica  2759 36.80% 0.30% 1.01% 61.91% NA
All Japonica  1512 64.40% 3.70% 0.79% 31.15% NA
Aus  269 27.90% 0.00% 4.09% 68.03% NA
Indica I  595 62.40% 0.70% 0.00% 36.97% NA
Indica II  465 10.80% 0.00% 2.80% 86.45% NA
Indica III  913 34.40% 0.00% 0.55% 65.06% NA
Indica Intermediate  786 35.60% 0.50% 1.27% 62.60% NA
Temperate Japonica  767 70.00% 7.00% 1.04% 21.90% NA
Tropical Japonica  504 62.90% 0.00% 0.40% 36.71% NA
Japonica Intermediate  241 49.40% 0.80% 0.83% 48.96% NA
VI/Aromatic  96 38.50% 0.00% 6.25% 55.21% NA
Intermediate  90 53.30% 0.00% 0.00% 46.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1123390040 C -> A LOC_Os11g39280.1 missense_variant ; p.Arg58Ser; MODERATE nonsynonymous_codon ; R58S Average:47.571; most accessible tissue: Zhenshan97 panicle, score: 96.335 unknown unknown DELETERIOUS 0.00
vg1123390040 C -> DEL LOC_Os11g39280.1 N frameshift_variant Average:47.571; most accessible tissue: Zhenshan97 panicle, score: 96.335 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)
vg1123390040 C A -0.02 -0.03 -0.03 0.02 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1123390040 5.13E-06 5.13E-06 mr1346 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
vg1123390040 2.98E-06 2.98E-06 mr1456 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
vg1123390040 NA 4.19E-06 mr1686 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
vg1123390040 7.54E-06 7.53E-06 mr1803 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
vg1123390040 NA 2.54E-06 mr1585_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