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Detailed information for vg1223000183:

Variant ID: vg1223000183 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 23000183
Reference Allele: CTAAlternative Allele: C,CTATA,ATA
Primary Allele: CTASecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATTAACATCTATATAAATGTGAGCAATACTAAAAATTCTTATAACCTGAAACGTAGGAAATAATAATTAAGGTGCCAAAGTCTAGGTTTTCTTTCTATCG[CTA/C,CTATA,ATA]
TATATATATATGTACGTAGTAGTATACTATATATAGGATCATATCGATCGGTCGCCGGCCGGCGGCGTGCGTCTAGCTGCTGGAGCGGAGGCCGGCGGCG

Reverse complement sequence

CGCCGCCGGCCTCCGCTCCAGCAGCTAGACGCACGCCGCCGGCCGGCGACCGATCGATATGATCCTATATATAGTATACTACTACGTACATATATATATA[TAG/G,TATAG,TAT]
CGATAGAAAGAAAACCTAGACTTTGGCACCTTAATTATTATTTCCTACGTTTCAGGTTATAAGAATTTTTAGTATTGCTCACATTTATATAGATGTTAAT

Allele Frequencies:

Populations Population SizeFrequency of CTA(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 60.90% 38.10% 0.72% 0.00% CTATA: 0.25%; ATA: 0.02%
All Indica  2759 44.00% 54.80% 1.16% 0.00% ATA: 0.04%
All Japonica  1512 93.70% 5.80% 0.07% 0.00% CTATA: 0.46%
Aus  269 37.20% 62.80% 0.00% 0.00% NA
Indica I  595 62.70% 36.60% 0.67% 0.00% NA
Indica II  465 16.80% 79.10% 3.87% 0.00% ATA: 0.22%
Indica III  913 55.50% 44.00% 0.44% 0.00% NA
Indica Intermediate  786 32.40% 66.80% 0.76% 0.00% NA
Temperate Japonica  767 94.00% 5.90% 0.00% 0.00% CTATA: 0.13%
Tropical Japonica  504 96.20% 3.00% 0.00% 0.00% CTATA: 0.79%
Japonica Intermediate  241 87.10% 11.60% 0.41% 0.00% CTATA: 0.83%
VI/Aromatic  96 84.40% 10.40% 0.00% 0.00% CTATA: 5.21%
Intermediate  90 77.80% 21.10% 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
vg1223000183 CTA -> C LOC_Os12g37480.1 3_prime_UTR_variant ; 73.0bp to feature; MODIFIER silent_mutation Average:69.108; most accessible tissue: Zhenshan97 flower, score: 86.194 N N N N
vg1223000183 CTA -> C LOC_Os12g37470.1 upstream_gene_variant ; 1660.0bp to feature; MODIFIER silent_mutation Average:69.108; most accessible tissue: Zhenshan97 flower, score: 86.194 N N N N
vg1223000183 CTA -> C LOC_Os12g37490.1 downstream_gene_variant ; 2027.0bp to feature; MODIFIER silent_mutation Average:69.108; most accessible tissue: Zhenshan97 flower, score: 86.194 N N N N
vg1223000183 CTA -> ATA LOC_Os12g37480.1 3_prime_UTR_variant ; 75.0bp to feature; MODIFIER silent_mutation Average:69.108; most accessible tissue: Zhenshan97 flower, score: 86.194 N N N N
vg1223000183 CTA -> ATA LOC_Os12g37470.1 upstream_gene_variant ; 1659.0bp to feature; MODIFIER silent_mutation Average:69.108; most accessible tissue: Zhenshan97 flower, score: 86.194 N N N N
vg1223000183 CTA -> ATA LOC_Os12g37490.1 downstream_gene_variant ; 2028.0bp to feature; MODIFIER silent_mutation Average:69.108; most accessible tissue: Zhenshan97 flower, score: 86.194 N N N N
vg1223000183 CTA -> CTATA LOC_Os12g37480.1 3_prime_UTR_variant ; 72.0bp to feature; MODIFIER silent_mutation Average:69.108; most accessible tissue: Zhenshan97 flower, score: 86.194 N N N N
vg1223000183 CTA -> CTATA LOC_Os12g37470.1 upstream_gene_variant ; 1662.0bp to feature; MODIFIER silent_mutation Average:69.108; most accessible tissue: Zhenshan97 flower, score: 86.194 N N N N
vg1223000183 CTA -> CTATA LOC_Os12g37490.1 downstream_gene_variant ; 2025.0bp to feature; MODIFIER silent_mutation Average:69.108; most accessible tissue: Zhenshan97 flower, score: 86.194 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)
vg1223000183 CTA ATA -0.1 -0.05 -0.04 -0.03 -0.06 -0.09
vg1223000183 CTA C -0.16 -0.08 -0.02 -0.08 -0.12 -0.13
vg1223000183 CTA CTATA -0.12 -0.07 -0.03 -0.09 -0.13 -0.1