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Detailed information for vg1214620614:

Variant ID: vg1214620614 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 14620614
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 122. )

Flanking Sequence (100 bp) in Reference Genome:


TTTCACATATGTGTGTGCTGTGATTTTTTTCTTTCTCACTAGAACAAATCTTATAATAGATCTAACGATTCAAAATTACGTGAAACTTACATACAAGTTA[C/T]
ACTGTAGTTACATGCAAGTTACAGTGTACTTACATACAAGTTACTGTACTTACACTACGATTGTACTATAATTACATCTGTCAAATTTTTAGTACAAAAT

Reverse complement sequence

ATTTTGTACTAAAAATTTGACAGATGTAATTATAGTACAATCGTAGTGTAAGTACAGTAACTTGTATGTAAGTACACTGTAACTTGCATGTAACTACAGT[G/A]
TAACTTGTATGTAAGTTTCACGTAATTTTGAATCGTTAGATCTATTATAAGATTTGTTCTAGTGAGAAAGAAAAAAATCACAGCACACACATATGTGAAA

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 23.70% 0.40% 25.67% 50.28% NA
All Indica  2759 5.50% 0.40% 29.07% 64.99% NA
All Japonica  1512 59.70% 0.40% 7.87% 32.01% NA
Aus  269 11.20% 0.00% 73.23% 15.61% NA
Indica I  595 8.40% 0.30% 36.47% 54.79% NA
Indica II  465 6.00% 0.90% 13.76% 79.35% NA
Indica III  913 1.40% 0.00% 30.67% 67.91% NA
Indica Intermediate  786 7.80% 0.80% 30.66% 60.81% NA
Temperate Japonica  767 87.00% 0.40% 3.39% 9.26% NA
Tropical Japonica  504 21.00% 0.40% 14.68% 63.89% NA
Japonica Intermediate  241 53.90% 0.40% 7.88% 37.76% NA
VI/Aromatic  96 3.10% 0.00% 73.96% 22.92% NA
Intermediate  90 33.30% 1.10% 26.67% 38.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1214620614 C -> DEL N N silent_mutation Average:45.65; most accessible tissue: Minghui63 root, score: 85.031 N N N N
vg1214620614 C -> T LOC_Os12g25340.1 downstream_gene_variant ; 2576.0bp to feature; MODIFIER silent_mutation Average:45.65; most accessible tissue: Minghui63 root, score: 85.031 N N N N
vg1214620614 C -> T LOC_Os12g25340-LOC_Os12g25350 intergenic_region ; MODIFIER silent_mutation Average:45.65; most accessible tissue: Minghui63 root, score: 85.031 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)
vg1214620614 C T 0.0 0.01 0.01 0.0 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1214620614 NA 2.10E-07 mr1050 Ind_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
vg1214620614 NA 2.29E-06 mr1125 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
vg1214620614 NA 5.63E-07 mr1157 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
vg1214620614 NA 7.99E-07 mr1399 Ind_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
vg1214620614 NA 7.51E-09 mr1603 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
vg1214620614 3.42E-06 6.24E-06 mr1898 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
vg1214620614 NA 9.81E-06 mr1050_2 Ind_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
vg1214620614 NA 3.86E-06 mr1361_2 Ind_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
vg1214620614 NA 5.95E-08 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
vg1214620614 NA 2.31E-06 mr1942_2 Ind_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
vg1214620614 NA 7.11E-06 mr1944_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