Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923).

Detailed information for vg1121993729:

Variant ID: vg1121993729 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 21993729
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACAATCAGATCTTGGCTCCCTTCTTGCCATCGAATTCAAGAACCGACCGATCCTCTCCCCCAATTCGAGCAGAAGTAAAATATATTAGCCATGTAGAACG[C/T]
GATCTTTTTTTCCACGAGTCCATGGCTGGATCTCAACACAAAGAAAAGGGGAACAGAAATGAACAGGGAAAAGAGGGCACGGATGAGGGGGATTCATTCA

Reverse complement sequence

TGAATGAATCCCCCTCATCCGTGCCCTCTTTTCCCTGTTCATTTCTGTTCCCCTTTTCTTTGTGTTGAGATCCAGCCATGGACTCGTGGAAAAAAAGATC[G/A]
CGTTCTACATGGCTAATATATTTTACTTCTGCTCGAATTGGGGGAGAGGATCGGTCGGTTCTTGAATTCGATGGCAAGAAGGGAGCCAAGATCTGATTGT

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 96.20% 3.20% 0.59% 0.00% NA
All Indica  2759 100.00% 0.00% 0.00% 0.00% NA
All Japonica  1512 88.40% 9.80% 1.85% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 100.00% 0.00% 0.00% 0.00% NA
Temperate Japonica  767 91.80% 6.50% 1.69% 0.00% NA
Tropical Japonica  504 86.90% 10.50% 2.58% 0.00% NA
Japonica Intermediate  241 80.50% 18.70% 0.83% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 98.90% 1.10% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1121993729 C -> T LOC_Os11g37230.2 5_prime_UTR_variant ; 1201.0bp to feature; MODIFIER silent_mutation Average:92.729; most accessible tissue: Zhenshan97 flag leaf, score: 97.8 N N N N
vg1121993729 C -> T LOC_Os11g37210.1 upstream_gene_variant ; 3379.0bp to feature; MODIFIER silent_mutation Average:92.729; most accessible tissue: Zhenshan97 flag leaf, score: 97.8 N N N N
vg1121993729 C -> T LOC_Os11g37240.1 upstream_gene_variant ; 4400.0bp to feature; MODIFIER silent_mutation Average:92.729; most accessible tissue: Zhenshan97 flag leaf, score: 97.8 N N N N
vg1121993729 C -> T LOC_Os11g37230.1 intron_variant ; MODIFIER silent_mutation Average:92.729; most accessible tissue: Zhenshan97 flag leaf, score: 97.8 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)
vg1121993729 C T -0.03 -0.06 -0.04 -0.04 -0.04 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1121993729 4.22E-06 NA mr1543 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
vg1121993729 1.21E-07 1.21E-07 mr1766 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