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Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg1212189458:

Variant ID: vg1212189458 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 12189458
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATGGCGGCGGCGGCTCTGATGATCCTCGGTGAGGGTGGTGGGGGTCGTTGTGTTTCAAGGGGAGGGGAGCGTGGTGGTGGCCGTGGTTGGGCATGGAGCG[G/A]
CCGGACACCGTGCAGGCCGACGGCGGCTGAACAGAGCAGGAAGGCGATGGGGCAGTGCTGGAGAGTTCTGACAGCTATCTCGGCGGGGAAGGTGAGGGAA

Reverse complement sequence

TTCCCTCACCTTCCCCGCCGAGATAGCTGTCAGAACTCTCCAGCACTGCCCCATCGCCTTCCTGCTCTGTTCAGCCGCCGTCGGCCTGCACGGTGTCCGG[C/T]
CGCTCCATGCCCAACCACGGCCACCACCACGCTCCCCTCCCCTTGAAACACAACGACCCCCACCACCCTCACCGAGGATCATCAGAGCCGCCGCCGCCAT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 80.80% 6.60% 2.39% 10.18% NA
All Indica  2759 81.60% 0.20% 0.98% 17.22% NA
All Japonica  1512 74.50% 19.90% 5.36% 0.26% NA
Aus  269 99.60% 0.00% 0.37% 0.00% NA
Indica I  595 98.30% 0.00% 0.34% 1.34% NA
Indica II  465 66.90% 0.40% 1.94% 30.75% NA
Indica III  913 79.70% 0.20% 0.66% 19.39% NA
Indica Intermediate  786 79.80% 0.30% 1.27% 18.70% NA
Temperate Japonica  767 94.40% 1.00% 4.17% 0.39% NA
Tropical Japonica  504 37.10% 55.80% 7.14% 0.00% NA
Japonica Intermediate  241 89.20% 5.00% 5.39% 0.41% NA
VI/Aromatic  96 99.00% 0.00% 1.04% 0.00% NA
Intermediate  90 86.70% 7.80% 3.33% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1212189458 G -> DEL LOC_Os12g21690.1 N frameshift_variant Average:91.642; most accessible tissue: Zhenshan97 flag leaf, score: 96.171 N N N N
vg1212189458 G -> A LOC_Os12g21690.1 missense_variant ; p.Gly44Asp; MODERATE nonsynonymous_codon ; G44D Average:91.642; most accessible tissue: Zhenshan97 flag leaf, score: 96.171 unknown unknown DELETERIOUS 0.00

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)
vg1212189458 G A -0.04 -0.06 -0.05 -0.01 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1212189458 NA 2.26E-07 mr1138 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
vg1212189458 NA 6.87E-06 mr1159 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
vg1212189458 NA 1.15E-08 mr1364 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
vg1212189458 NA 5.20E-07 mr1422 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
vg1212189458 NA 5.21E-08 mr1443 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
vg1212189458 NA 4.19E-07 mr1583 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
vg1212189458 NA 3.47E-06 mr1830 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
vg1212189458 2.05E-06 NA mr1960 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
vg1212189458 NA 9.92E-07 mr1422_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
vg1212189458 NA 4.09E-08 mr1653_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