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Detailed information for vg0909369883:

Variant ID: vg0909369883 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 9369883
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGAGGATGAAGTATCCGGTGATCTTCCCCTCGTACTGCTCCGCCCTCCCGGCGATCGCCTCGCCGCCGCCGCCGCCGAACCCTCCTGCCATCTTCTCTCT[C/T]
TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTGAGTTTCAGAGACAGAGATTCAGAGTCACACTCTTCCTCCTCTCCTCCCCA

Reverse complement sequence

TGGGGAGGAGAGGAGGAAGAGTGTGACTCTGAATCTCTGTCTCTGAAACTCAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA[G/A]
AGAGAGAAGATGGCAGGAGGGTTCGGCGGCGGCGGCGGCGAGGCGATCGCCGGGAGGGCGGAGCAGTACGAGGGGAAGATCACCGGATACTTCATCCTCG

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 75.60% 4.20% 8.40% 11.83% NA
All Indica  2759 79.30% 6.90% 6.20% 7.58% NA
All Japonica  1512 72.30% 0.20% 8.07% 19.44% NA
Aus  269 50.90% 0.70% 35.69% 12.64% NA
Indica I  595 80.80% 5.40% 5.71% 8.07% NA
Indica II  465 71.00% 9.20% 11.61% 8.17% NA
Indica III  913 84.30% 7.20% 2.19% 6.24% NA
Indica Intermediate  786 77.20% 6.40% 8.02% 8.40% NA
Temperate Japonica  767 78.10% 0.10% 7.04% 14.73% NA
Tropical Japonica  504 70.80% 0.00% 9.72% 19.44% NA
Japonica Intermediate  241 56.80% 0.80% 7.88% 34.44% NA
VI/Aromatic  96 81.20% 0.00% 2.08% 16.67% NA
Intermediate  90 83.30% 3.30% 6.67% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0909369883 C -> DEL N N silent_mutation Average:84.356; most accessible tissue: Zhenshan97 root, score: 95.529 N N N N
vg0909369883 C -> T LOC_Os09g15330.1 5_prime_UTR_variant ; 10.0bp to feature; MODIFIER silent_mutation Average:84.356; most accessible tissue: Zhenshan97 root, score: 95.529 N N N N
vg0909369883 C -> T LOC_Os09g15330.2 5_prime_UTR_variant ; 10.0bp to feature; MODIFIER silent_mutation Average:84.356; most accessible tissue: Zhenshan97 root, score: 95.529 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)
vg0909369883 C T -0.02 -0.03 -0.03 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0909369883 3.80E-06 7.12E-07 mr1961 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