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Detailed information for vg1200761409:

Variant ID: vg1200761409 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 761409
Reference Allele: TCCAlternative Allele: TCCCC,TCCCCCC,TCCCCC,TCCC,TC,T
Primary Allele: TCCSecondary Allele: TCCCC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACCGTCGCCGGCGTCCCCGGCAAATGCGGCGTCAACGTTGGCTTCCCCATCAGCCTCTCCACCGACTGCAACAAGTATATCATCTCTCTTTATTATGACG[TCC/TCCCC,TCCCCCC,TCCCCC,TCCC,TC,T]
CCCCCCTCTCTCTCTATATATATACACACATATATCTCTTTATTTTTTAGTGCTATCTAAATACTCCTCCGTTTCAGGTTATATGACGTTTTAACTTTGG

Reverse complement sequence

CCAAAGTTAAAACGTCATATAACCTGAAACGGAGGAGTATTTAGATAGCACTAAAAAATAAAGAGATATATGTGTGTATATATATAGAGAGAGAGGGGGG[GGA/GGGGA,GGGGGGA,GGGGGA,GGGA,GA,A]
CGTCATAATAAAGAGAGATGATATACTTGTTGCAGTCGGTGGAGAGGCTGATGGGGAAGCCAACGTTGACGCCGCATTTGCCGGGGACGCCGGCGACGGT

Allele Frequencies:

Populations Population SizeFrequency of TCC(primary allele) Frequency of TCCCC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 54.80% 4.80% 20.80% 16.61% TCCCCC: 1.86%; TCCC: 0.57%; TCCCCCC: 0.32%; TC: 0.25%; T: 0.06%
All Indica  2759 33.20% 7.90% 30.23% 26.02% TCCCCC: 2.03%; TCCCCCC: 0.47%; TCCC: 0.07%; TC: 0.04%; T: 0.04%
All Japonica  1512 94.00% 0.10% 1.98% 2.51% TC: 0.73%; TCCC: 0.46%; TCCCCC: 0.13%
Aus  269 42.80% 0.40% 38.66% 5.58% TCCCCC: 11.15%; TCCCCCC: 0.74%; TCCC: 0.74%
Indica I  595 49.60% 21.30% 23.19% 3.19% TCCCCC: 2.52%; TCCC: 0.17%
Indica II  465 16.80% 2.40% 24.95% 54.19% TCCCCCC: 0.86%; TCCCCC: 0.86%
Indica III  913 38.10% 2.10% 33.30% 23.88% TCCCCC: 1.97%; TCCCCCC: 0.55%; TC: 0.11%
Indica Intermediate  786 24.70% 7.90% 35.11% 29.13% TCCCCC: 2.42%; TCCCCCC: 0.51%; T: 0.13%; TCCC: 0.13%
Temperate Japonica  767 93.10% 0.10% 2.74% 3.39% TCCC: 0.39%; TCCCCC: 0.26%
Tropical Japonica  504 93.70% 0.20% 1.59% 1.79% TC: 2.18%; TCCC: 0.60%
Japonica Intermediate  241 97.90% 0.00% 0.41% 1.24% TCCC: 0.41%
VI/Aromatic  96 77.10% 0.00% 5.21% 1.04% TCCC: 16.67%
Intermediate  90 68.90% 3.30% 11.11% 14.44% T: 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
vg1200761409 TCC -> TCCCC LOC_Os12g02350.1 upstream_gene_variant ; 2379.0bp to feature; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCCC LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCCC LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCCCC LOC_Os12g02350.1 upstream_gene_variant ; 2379.0bp to feature; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCCCC LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCCCC LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCC LOC_Os12g02350.1 upstream_gene_variant ; 2379.0bp to feature; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCC LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCC LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCCCCC LOC_Os12g02350.1 upstream_gene_variant ; 2379.0bp to feature; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCCCCC LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TCCCCCC LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> T LOC_Os12g02350.1 upstream_gene_variant ; 2381.0bp to feature; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> T LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> T LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> DEL N N silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TC LOC_Os12g02350.1 upstream_gene_variant ; 2380.0bp to feature; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TC LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 N N N N
vg1200761409 TCC -> TC LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.783; most accessible tissue: Zhenshan97 flower, score: 94.158 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)
vg1200761409 TCC T 0.0 -0.15 -0.08 -0.04 0.08 0.29
vg1200761409 TCC TC -0.07 -0.04 -0.01 -0.04 -0.01 0.0
vg1200761409 TCC TCCC -0.1 -0.05 -0.1 -0.03 -0.03 0.11
vg1200761409 TCC TCCCC -0.09 -0.12 -0.25 -0.07 -0.05 0.22
vg1200761409 TCC TCCCC* -0.06 -0.1 -0.06 -0.06 -0.17 -0.13