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Detailed information for vg0424402394:

Variant ID: vg0424402394 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 24402394
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: Unkown

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAACTCGAAGTCTCTGGGGCCGAGGCGAGACCGGGGTGGCGGTTGCGGCGGCGCGGGTGGCTCGACGAGGCCGAGCAGGGGGTCCTCGGAGTCGCCGGCG[G/A]
CGTGGGAGCAGGTGCGGCGCAGGGAGGCGCGTAGTGTCGCTACCGCCGCCGCGCGGCGGCGGATCATGGAGCGGCGGCGTGGGCGGTGGCGGTGGCGGTG

Reverse complement sequence

CACCGCCACCGCCACCGCCCACGCCGCCGCTCCATGATCCGCCGCCGCGCGGCGGCGGTAGCGACACTACGCGCCTCCCTGCGCCGCACCTGCTCCCACG[C/T]
CGCCGGCGACTCCGAGGACCCCCTGCTCGGCCTCGTCGAGCCACCCGCGCCGCCGCAACCGCCACCCCGGTCTCGCCTCGGCCCCAGAGACTTCGAGTTT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of Unkown(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 97.40% 0.00% 0.11% 2.45% NA
All Indica  2759 97.00% 0.00% 0.07% 2.90% NA
All Japonica  1512 97.40% 0.00% 0.20% 2.38% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.70% 0.00% 0.17% 1.18% NA
Indica II  465 91.20% 0.00% 0.22% 8.60% NA
Indica III  913 99.10% 0.00% 0.00% 0.88% NA
Indica Intermediate  786 96.80% 0.00% 0.00% 3.18% NA
Temperate Japonica  767 97.90% 0.00% 0.26% 1.83% NA
Tropical Japonica  504 95.60% 0.00% 0.20% 4.17% NA
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.41% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 100.00% 0.00% 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
vg0424402394 G -> A LOC_Os04g41140.1 missense_variant ; p.Ala23Val; MODERATE N Average:96.549; most accessible tissue: Zhenshan97 panicle, score: 99.136 N N N N
vg0424402394 G -> A LOC_Os04g41150.1 upstream_gene_variant ; 264.0bp to feature; MODIFIER N Average:96.549; most accessible tissue: Zhenshan97 panicle, score: 99.136 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)
vg0424402394 G A -0.02 -0.03 -0.03 -0.02 -0.01 -0.02