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Detailed information for vg0204869246:

Variant ID: vg0204869246 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 4869246
Reference Allele: GAAlternative Allele: G,GAA,GAAA,GAAAA
Primary Allele: GASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGGGTAATCTTTAATTGCCACTTTAAATAGTTAAATATTTTTATTTTGGAGCTATATGGCCGTACTCGAGCTGTAAATAACCGATGATCTTTTCTTTTTG[GA/G,GAA,GAAA,GAAAA]
AAAAAAAAAGCCTTTGTTTCGAATGTATAGGAATTTTCTGAGAATCTGAAAGTACTTATATTCCTCAGAACCGTAAGAACTTGTTTCTTATTGGCCGCTT

Reverse complement sequence

AAGCGGCCAATAAGAAACAAGTTCTTACGGTTCTGAGGAATATAAGTACTTTCAGATTCTCAGAAAATTCCTATACATTCGAAACAAAGGCTTTTTTTTT[TC/C,TTC,TTTC,TTTTC]
CAAAAAGAAAAGATCATCGGTTATTTACAGCTCGAGTACGGCCATATAGCTCCAAAATAAAAATATTTAACTATTTAAAGTGGCAATTAAAGATTACCCA

Allele Frequencies:

Populations Population SizeFrequency of GA(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 40.50% 33.00% 2.52% 0.00% GAA: 23.57%; GAAA: 0.44%; GAAAA: 0.04%
All Indica  2759 27.80% 46.70% 3.62% 0.00% GAA: 21.28%; GAAA: 0.62%; GAAAA: 0.04%
All Japonica  1512 66.20% 1.20% 1.06% 0.00% GAA: 31.35%; GAAA: 0.20%
Aus  269 21.90% 69.10% 0.00% 0.00% GAA: 8.55%; GAAAA: 0.37%
Indica I  595 26.60% 32.60% 10.25% 0.00% GAA: 28.57%; GAAA: 1.85%; GAAAA: 0.17%
Indica II  465 28.20% 49.70% 1.08% 0.00% GAA: 21.08%
Indica III  913 26.30% 60.80% 0.55% 0.00% GAA: 11.83%; GAAA: 0.55%
Indica Intermediate  786 30.20% 39.20% 3.69% 0.00% GAA: 26.84%; GAAA: 0.13%
Temperate Japonica  767 92.70% 0.70% 0.91% 0.00% GAA: 5.74%
Tropical Japonica  504 36.30% 1.00% 0.79% 0.00% GAA: 61.71%; GAAA: 0.20%
Japonica Intermediate  241 44.40% 3.30% 2.07% 0.00% GAA: 49.38%; GAAA: 0.83%
VI/Aromatic  96 49.00% 44.80% 0.00% 0.00% GAA: 6.25%
Intermediate  90 43.30% 25.60% 3.33% 0.00% GAA: 26.67%; GAAA: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0204869246 GA -> G LOC_Os02g09480.1 3_prime_UTR_variant ; 611.0bp to feature; MODIFIER silent_mutation Average:95.622; most accessible tissue: Minghui63 young leaf, score: 98.324 N N N N
vg0204869246 GA -> G LOC_Os02g09490.1 downstream_gene_variant ; 895.0bp to feature; MODIFIER silent_mutation Average:95.622; most accessible tissue: Minghui63 young leaf, score: 98.324 N N N N
vg0204869246 GA -> GAA LOC_Os02g09480.1 3_prime_UTR_variant ; 612.0bp to feature; MODIFIER silent_mutation Average:95.622; most accessible tissue: Minghui63 young leaf, score: 98.324 N N N N
vg0204869246 GA -> GAA LOC_Os02g09490.1 downstream_gene_variant ; 894.0bp to feature; MODIFIER silent_mutation Average:95.622; most accessible tissue: Minghui63 young leaf, score: 98.324 N N N N
vg0204869246 GA -> GAAAA LOC_Os02g09480.1 3_prime_UTR_variant ; 612.0bp to feature; MODIFIER silent_mutation Average:95.622; most accessible tissue: Minghui63 young leaf, score: 98.324 N N N N
vg0204869246 GA -> GAAAA LOC_Os02g09490.1 downstream_gene_variant ; 894.0bp to feature; MODIFIER silent_mutation Average:95.622; most accessible tissue: Minghui63 young leaf, score: 98.324 N N N N
vg0204869246 GA -> GAAA LOC_Os02g09480.1 3_prime_UTR_variant ; 612.0bp to feature; MODIFIER silent_mutation Average:95.622; most accessible tissue: Minghui63 young leaf, score: 98.324 N N N N
vg0204869246 GA -> GAAA LOC_Os02g09490.1 downstream_gene_variant ; 894.0bp to feature; MODIFIER silent_mutation Average:95.622; most accessible tissue: Minghui63 young leaf, score: 98.324 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)
vg0204869246 GA G 0.07 -0.08 -0.05 0.08 -0.06 -0.11
vg0204869246 GA GAA 0.06 -0.01 -0.1 0.05 0.02 -0.02
vg0204869246 GA GAAA 0.16 0.07 -0.06 0.17 0.09 0.1
vg0204869246 GA GAAAA 0.14 0.19 0.1 0.11 0.11 0.14