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Detailed information for vg0723323149:

Variant ID: vg0723323149 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 23323149
Reference Allele: AAlternative Allele: C
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGCCACGTGAGTTTCACTCGCCACATCAGCCAATACCGGCCACAATACTGCCAAGGGACTAAAGTTGATACAGTATTGCGAGTTGAAGGATAAGTTATAT[A/C]
TGGTATTTCGGTTCAAGGATGAATTTCAGACTCGACGACAAATTGAGGGACCAAAGGTAAACTTATCCAATAAAATCTGATGAGTGATGACATTGACACC

Reverse complement sequence

GGTGTCAATGTCATCACTCATCAGATTTTATTGGATAAGTTTACCTTTGGTCCCTCAATTTGTCGTCGAGTCTGAAATTCATCCTTGAACCGAAATACCA[T/G]
ATATAACTTATCCTTCAACTCGCAATACTGTATCAACTTTAGTCCCTTGGCAGTATTGTGGCCGGTATTGGCTGATGTGGCGAGTGAAACTCACGTGGCC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 78.60% 21.10% 0.23% 0.06% NA
All Indica  2759 89.70% 10.00% 0.22% 0.07% NA
All Japonica  1512 67.40% 32.30% 0.20% 0.07% NA
Aus  269 36.10% 63.90% 0.00% 0.00% NA
Indica I  595 98.70% 1.30% 0.00% 0.00% NA
Indica II  465 86.90% 12.70% 0.22% 0.22% NA
Indica III  913 87.50% 12.40% 0.00% 0.11% NA
Indica Intermediate  786 87.20% 12.20% 0.64% 0.00% NA
Temperate Japonica  767 86.70% 13.20% 0.13% 0.00% NA
Tropical Japonica  504 46.20% 53.60% 0.20% 0.00% NA
Japonica Intermediate  241 50.20% 49.00% 0.41% 0.41% NA
VI/Aromatic  96 62.50% 37.50% 0.00% 0.00% NA
Intermediate  90 68.90% 28.90% 2.22% 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
vg0723323149 A -> DEL N N silent_mutation Average:87.259; most accessible tissue: Zhenshan97 panicle, score: 99.03 N N N N
vg0723323149 A -> C LOC_Os07g38870.1 upstream_gene_variant ; 105.0bp to feature; MODIFIER silent_mutation Average:87.259; most accessible tissue: Zhenshan97 panicle, score: 99.03 N N N N
vg0723323149 A -> C LOC_Os07g38860.1 downstream_gene_variant ; 3995.0bp to feature; MODIFIER silent_mutation Average:87.259; most accessible tissue: Zhenshan97 panicle, score: 99.03 N N N N
vg0723323149 A -> C LOC_Os07g38880.1 downstream_gene_variant ; 1356.0bp to feature; MODIFIER silent_mutation Average:87.259; most accessible tissue: Zhenshan97 panicle, score: 99.03 N N N N
vg0723323149 A -> C LOC_Os07g38890.1 downstream_gene_variant ; 2048.0bp to feature; MODIFIER silent_mutation Average:87.259; most accessible tissue: Zhenshan97 panicle, score: 99.03 N N N N
vg0723323149 A -> C LOC_Os07g38870-LOC_Os07g38880 intergenic_region ; MODIFIER silent_mutation Average:87.259; most accessible tissue: Zhenshan97 panicle, score: 99.03 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)
vg0723323149 A C -0.01 0.01 0.0 -0.01 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0723323149 1.41E-13 NA mr1563 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
vg0723323149 5.70E-13 1.81E-21 mr1563 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
vg0723323149 6.73E-06 NA mr1301_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
vg0723323149 1.21E-18 NA mr1563_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
vg0723323149 2.97E-19 3.75E-27 mr1563_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