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Detailed information for vg0823617230:

Variant ID: vg0823617230 (JBrowse)Variation Type: INDEL
Chromosome: chr08Position: 23617230
Reference Allele: GGGAAATACGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGAAlternative Allele: AGGAAATACGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGA,G
Primary Allele: GGGAAATACGTACTCTATGG TGGGCATATCGTGCGTGTAG GAATTGASecondary Allele: AGGAAATACGTACTCTATGG TGGGCATATCGTGCGTGTAG GAATTGA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCCTATTTTGCTCCACGGAAAATATCCAGTCCTTTTTTACTCCACCGAAAATCGTCCTCTACTATTGCCGGTCTGCCAGTTGAAATTCGACCTCCCTAC[GGGAAATACGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGA/AGGAAATACGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGA,G]
TGAAATGCGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGATGCCATTTTGAACAACTATTCAGATTGATGGCATTTTGAACCATATTATTTTTA

Reverse complement sequence

TAAAAATAATATGGTTCAAAATGCCATCAATCTGAATAGTTGTTCAAAATGGCATCAATTCCTACACGCACGATATGCCCACCATAGAGTACGCATTTCA[TCAATTCCTACACGCACGATATGCCCACCATAGAGTACGTATTTCCC/TCAATTCCTACACGCACGATATGCCCACCATAGAGTACGTATTTCCT,C]
GTAGGGAGGTCGAATTTCAACTGGCAGACCGGCAATAGTAGAGGACGATTTTCGGTGGAGTAAAAAAGGACTGGATATTTTCCGTGGAGCAAAATAGGGC

Allele Frequencies:

Populations Population SizeFrequency of GGGAAATACGTACTCTATGG TGGGCATATCGTGCGTGTAG GAATTGA(primary allele) Frequency of AGGAAATACGTACTCTATGG TGGGCATATCGTGCGTGTAG GAATTGA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 96.20% 3.20% 0.61% 0.00% G: 0.04%
All Indica  2759 99.80% 0.10% 0.04% 0.00% G: 0.04%
All Japonica  1512 89.00% 9.30% 1.72% 0.00% NA
Aus  269 99.30% 0.00% 0.37% 0.00% G: 0.37%
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 99.60% 0.30% 0.00% 0.00% G: 0.11%
Indica Intermediate  786 99.70% 0.10% 0.13% 0.00% NA
Temperate Japonica  767 99.60% 0.00% 0.39% 0.00% NA
Tropical Japonica  504 70.60% 26.00% 3.37% 0.00% NA
Japonica Intermediate  241 93.80% 3.70% 2.49% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 93.30% 5.60% 1.11% 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
vg0823617230 GGGAAATACGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGA -> G LOC_Os08g37370.1 upstream_gene_variant ; 2524.0bp to feature; MODIFIER silent_mutation Average:84.109; most accessible tissue: Minghui63 flag leaf, score: 98.339 N N N N
vg0823617230 GGGAAATACGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGA -> G LOC_Os08g37370.2 upstream_gene_variant ; 2524.0bp to feature; MODIFIER silent_mutation Average:84.109; most accessible tissue: Minghui63 flag leaf, score: 98.339 N N N N
vg0823617230 GGGAAATACGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGA -> G LOC_Os08g37370-LOC_Os08g37380 intergenic_region ; MODIFIER silent_mutation Average:84.109; most accessible tissue: Minghui63 flag leaf, score: 98.339 N N N N
vg0823617230 GGGAAATACGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGA -> AGGAAATACGTACTCTATGGTGGGCATATC GTGCGTGTAGGAATTGA LOC_Os08g37370.1 upstream_gene_variant ; 2523.0bp to feature; MODIFIER silent_mutation Average:84.109; most accessible tissue: Minghui63 flag leaf, score: 98.339 N N N N
vg0823617230 GGGAAATACGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGA -> AGGAAATACGTACTCTATGGTGGGCATATC GTGCGTGTAGGAATTGA LOC_Os08g37370.2 upstream_gene_variant ; 2523.0bp to feature; MODIFIER silent_mutation Average:84.109; most accessible tissue: Minghui63 flag leaf, score: 98.339 N N N N
vg0823617230 GGGAAATACGTACTCTATGGTGGGCATATCGTGCGTGTAGGAATTGA -> AGGAAATACGTACTCTATGGTGGGCATATC GTGCGTGTAGGAATTGA LOC_Os08g37370-LOC_Os08g37380 intergenic_region ; MODIFIER silent_mutation Average:84.109; most accessible tissue: Minghui63 flag leaf, score: 98.339 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)
vg0823617230 GGGAA* AGGAA* -0.01 -0.06 -0.04 0.0 -0.02 -0.02
vg0823617230 GGGAA* G 0.23 0.43 0.36 0.14 0.39 0.22

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0823617230 8.41E-07 8.41E-07 mr1448_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