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Detailed information for vg1200761416:

Variant ID: vg1200761416 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 761416
Reference Allele: CCTAlternative Allele: CCCCACT,CCCCCACT,CCCACT,TCT,C
Primary Allele: CCTSecondary Allele: CCCCACT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCGGCGTCCCCGGCAAATGCGGCGTCAACGTTGGCTTCCCCATCAGCCTCTCCACCGACTGCAACAAGTATATCATCTCTCTTTATTATGACGTCCCCCC[CCT/CCCCACT,CCCCCACT,CCCACT,TCT,C]
CTCTCTCTATATATATACACACATATATCTCTTTATTTTTTAGTGCTATCTAAATACTCCTCCGTTTCAGGTTATATGACGTTTTAACTTTGGTTAAAGT

Reverse complement sequence

ACTTTAACCAAAGTTAAAACGTCATATAACCTGAAACGGAGGAGTATTTAGATAGCACTAAAAAATAAAGAGATATATGTGTGTATATATATAGAGAGAG[AGG/AGTGGGG,AGTGGGGG,AGTGGG,AGA,G]
GGGGGGACGTCATAATAAAGAGAGATGATATACTTGTTGCAGTCGGTGGAGAGGCTGATGGGGAAGCCAACGTTGACGCCGCATTTGCCGGGGACGCCGG

Allele Frequencies:

Populations Population SizeFrequency of CCT(primary allele) Frequency of CCCCACT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 80.10% 1.50% 11.21% 6.77% CCCCCACT: 0.32%; TCT: 0.06%; C: 0.02%; CCCACT: 0.02%
All Indica  2759 68.80% 2.50% 17.62% 10.44% CCCCCACT: 0.54%; CCCACT: 0.04%; TCT: 0.04%
All Japonica  1512 98.30% 0.00% 0.73% 0.86% C: 0.07%
Aus  269 87.40% 0.00% 7.81% 4.83% NA
Indica I  595 96.50% 0.20% 2.02% 1.34% NA
Indica II  465 48.00% 0.20% 36.34% 15.48% NA
Indica III  913 65.40% 5.30% 15.12% 12.81% CCCCCACT: 1.42%
Indica Intermediate  786 64.20% 2.40% 21.25% 11.58% CCCCCACT: 0.25%; TCT: 0.13%; CCCACT: 0.13%
Temperate Japonica  767 98.20% 0.00% 0.78% 1.04% NA
Tropical Japonica  504 98.20% 0.00% 0.79% 0.79% C: 0.20%
Japonica Intermediate  241 99.20% 0.00% 0.41% 0.41% NA
VI/Aromatic  96 96.90% 1.00% 1.04% 1.04% NA
Intermediate  90 78.90% 1.10% 12.22% 5.56% TCT: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1200761416 CCT -> C LOC_Os12g02350.1 upstream_gene_variant ; 2374.0bp to feature; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> C LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> C LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> CCCCACT LOC_Os12g02350.1 upstream_gene_variant ; 2373.0bp to feature; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> CCCCACT LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> CCCCACT LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> CCCCCACT LOC_Os12g02350.1 upstream_gene_variant ; 2373.0bp to feature; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> CCCCCACT LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> CCCCCACT LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> TCT LOC_Os12g02350.1 upstream_gene_variant ; 2375.0bp to feature; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> TCT LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> TCT LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> DEL N N silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> CCCACT LOC_Os12g02350.1 upstream_gene_variant ; 2373.0bp to feature; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> CCCACT LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 N N N N
vg1200761416 CCT -> CCCACT LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.173; most accessible tissue: Zhenshan97 flower, score: 94.071 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)
vg1200761416 CCT C 0.13 0.11 0.08 0.06 0.02 -0.32
vg1200761416 CCT CCCAC* -0.05 0.13 0.04 0.05 0.04 -0.19
vg1200761416 CCT CCCCA* 0.0 0.13 -0.07 0.08 0.04 -0.21
vg1200761416 CCT CCCCC* 0.05 0.25 0.14 0.14 0.15 -0.23
vg1200761416 CCT TCT -0.01 0.01 0.01 0.0 0.0 0.0