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Detailed information for vg1223629773:

Variant ID: vg1223629773 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 23629773
Reference Allele: AAlternative Allele: C,ATCGTC,G
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCTTTTTTTTTTTGGACGGATGGAGTACTTTGATGTAAACTCTAGCTGCTGCGGCCAGCTCAATTCAACATCTTTTGAGATTGAGATAGTACACATCTC[A/C,ATCGTC,G]
TCGTGTTAGACTCTATTTAGATGGGACTAAAACTTTTAAGTCCCTATCACATCGAATGTTTGGACACTAATTATATATATTAAACGTAGAATATTAATAA

Reverse complement sequence

TTATTAATATTCTACGTTTAATATATATAATTAGTGTCCAAACATTCGATGTGATAGGGACTTAAAAGTTTTAGTCCCATCTAAATAGAGTCTAACACGA[T/G,GACGAT,C]
GAGATGTGTACTATCTCAATCTCAAAAGATGTTGAATTGAGCTGGCCGCAGCAGCTAGAGTTTACATCAAAGTACTCCATCCGTCCAAAAAAAAAAAGGC

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 39.30% 2.60% 6.71% 51.23% ATCGTC: 0.11%; G: 0.04%
All Indica  2759 10.70% 0.10% 7.83% 81.30% G: 0.07%
All Japonica  1512 91.30% 8.10% 0.00% 0.60% NA
Aus  269 13.80% 0.00% 34.94% 49.44% ATCGTC: 1.86%
Indica I  595 2.50% 0.00% 8.57% 88.91% NA
Indica II  465 27.10% 0.00% 11.61% 61.29% NA
Indica III  913 5.50% 0.00% 4.16% 90.14% G: 0.22%
Indica Intermediate  786 13.40% 0.30% 9.29% 77.10% NA
Temperate Japonica  767 97.10% 2.60% 0.00% 0.26% NA
Tropical Japonica  504 94.40% 4.40% 0.00% 1.19% NA
Japonica Intermediate  241 66.40% 33.20% 0.00% 0.41% NA
VI/Aromatic  96 89.60% 0.00% 2.08% 8.33% NA
Intermediate  90 62.20% 1.10% 5.56% 31.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223629773 A -> C LOC_Os12g38490.1 upstream_gene_variant ; 4899.0bp to feature; MODIFIER silent_mutation Average:86.026; most accessible tissue: Zhenshan97 flag leaf, score: 95.292 N N N N
vg1223629773 A -> C LOC_Os12g38480-LOC_Os12g38490 intergenic_region ; MODIFIER silent_mutation Average:86.026; most accessible tissue: Zhenshan97 flag leaf, score: 95.292 N N N N
vg1223629773 A -> DEL N N silent_mutation Average:86.026; most accessible tissue: Zhenshan97 flag leaf, score: 95.292 N N N N
vg1223629773 A -> G LOC_Os12g38490.1 upstream_gene_variant ; 4899.0bp to feature; MODIFIER silent_mutation Average:86.026; most accessible tissue: Zhenshan97 flag leaf, score: 95.292 N N N N
vg1223629773 A -> G LOC_Os12g38480-LOC_Os12g38490 intergenic_region ; MODIFIER silent_mutation Average:86.026; most accessible tissue: Zhenshan97 flag leaf, score: 95.292 N N N N
vg1223629773 A -> ATCGTC LOC_Os12g38490.1 upstream_gene_variant ; 4898.0bp to feature; MODIFIER silent_mutation Average:86.026; most accessible tissue: Zhenshan97 flag leaf, score: 95.292 N N N N
vg1223629773 A -> ATCGTC LOC_Os12g38480-LOC_Os12g38490 intergenic_region ; MODIFIER silent_mutation Average:86.026; most accessible tissue: Zhenshan97 flag leaf, score: 95.292 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)
vg1223629773 A ATCGT* -0.8 -0.01 0.22 -0.18 -0.03 0.06
vg1223629773 A C 0.0 0.01 0.01 0.03 0.02 0.02
vg1223629773 A G 0.05 0.05 0.09 0.04 0.08 0.08

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1223629773 NA 1.57E-06 mr1117 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
vg1223629773 NA 6.39E-06 mr1496 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
vg1223629773 NA 1.55E-09 mr1693 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
vg1223629773 9.49E-08 NA mr1038_2 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
vg1223629773 NA 9.01E-08 mr1117_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
vg1223629773 NA 7.66E-07 mr1119_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
vg1223629773 NA 5.81E-06 mr1123_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
vg1223629773 NA 2.89E-06 mr1240_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
vg1223629773 NA 8.90E-07 mr1242_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
vg1223629773 NA 7.19E-06 mr1247_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
vg1223629773 NA 1.24E-08 mr1496_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
vg1223629773 NA 4.98E-06 mr1519_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
vg1223629773 NA 2.11E-06 mr1691_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
vg1223629773 NA 1.24E-06 mr1720_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