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Detailed information for vg0429662407:

Variant ID: vg0429662407 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 29662407
Reference Allele: CAlternative Allele: CT,CTT,CTTT
Primary Allele: CTSecondary Allele: CTT

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 327. )

Flanking Sequence (100 bp) in Reference Genome:


CAGCTGGGTCAGCTGACGTCACACAAACTTCAGAAGCAAAACTCTGAAGCCTGATACGCCTGATAGTGATACCCAGAGTGAATTTTACTGTACTTGATCT[C/CT,CTT,CTTT]
TTTTTTTTCACGGAATCAATTGGAAATTTGGAATACTGGTCTTATCTTCCCTGGAATAACGGGGTCAATCAGAGTAACTGCAGAATAACAGGAACTCGAT

Reverse complement sequence

ATCGAGTTCCTGTTATTCTGCAGTTACTCTGATTGACCCCGTTATTCCAGGGAAGATAAGACCAGTATTCCAAATTTCCAATTGATTCCGTGAAAAAAAA[G/AG,AAG,AAAG]
AGATCAAGTACAGTAAAATTCACTCTGGGTATCACTATCAGGCGTATCAGGCTTCAGAGTTTTGCTTCTGAAGTTTGTGTGACGTCAGCTGACCCAGCTG

Allele Frequencies:

Populations Population SizeFrequency of CT(primary allele) Frequency of CTT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 64.10% 31.40% 1.48% 0.00% CTTT: 1.76%; C: 1.27%
All Indica  2759 85.30% 13.00% 0.29% 0.00% CTTT: 1.34%; C: 0.04%
All Japonica  1512 39.70% 49.90% 3.84% 0.00% C: 3.90%; CTTT: 2.65%
Aus  269 7.80% 90.00% 0.74% 0.00% CTTT: 1.49%
Indica I  595 97.80% 2.20% 0.00% 0.00% NA
Indica II  465 91.20% 8.20% 0.00% 0.00% CTTT: 0.65%
Indica III  913 77.10% 19.90% 0.22% 0.00% CTTT: 2.74%
Indica Intermediate  786 81.90% 16.00% 0.76% 0.00% CTTT: 1.15%; C: 0.13%
Temperate Japonica  767 16.30% 70.30% 4.69% 0.00% C: 7.56%; CTTT: 1.17%
Tropical Japonica  504 72.20% 23.20% 2.58% 0.00% CTTT: 1.98%
Japonica Intermediate  241 46.10% 41.10% 3.73% 0.00% CTTT: 8.71%; C: 0.41%
VI/Aromatic  96 1.00% 99.00% 0.00% 0.00% NA
Intermediate  90 57.80% 37.80% 2.22% 0.00% CTTT: 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
vg0429662407 C -> CT LOC_Os04g49748.1 3_prime_UTR_variant ; 63.0bp to feature; MODIFIER silent_mutation Average:92.523; most accessible tissue: Minghui63 young leaf, score: 98.089 N N N N
vg0429662407 C -> CT LOC_Os04g49757.1 upstream_gene_variant ; 3732.0bp to feature; MODIFIER silent_mutation Average:92.523; most accessible tissue: Minghui63 young leaf, score: 98.089 N N N N
vg0429662407 C -> CT LOC_Os04g49739.1 downstream_gene_variant ; 1831.0bp to feature; MODIFIER silent_mutation Average:92.523; most accessible tissue: Minghui63 young leaf, score: 98.089 N N N N
vg0429662407 C -> CTT LOC_Os04g49748.1 3_prime_UTR_variant ; 63.0bp to feature; MODIFIER silent_mutation Average:92.523; most accessible tissue: Minghui63 young leaf, score: 98.089 N N N N
vg0429662407 C -> CTT LOC_Os04g49757.1 upstream_gene_variant ; 3732.0bp to feature; MODIFIER silent_mutation Average:92.523; most accessible tissue: Minghui63 young leaf, score: 98.089 N N N N
vg0429662407 C -> CTT LOC_Os04g49739.1 downstream_gene_variant ; 1831.0bp to feature; MODIFIER silent_mutation Average:92.523; most accessible tissue: Minghui63 young leaf, score: 98.089 N N N N
vg0429662407 C -> CTTT LOC_Os04g49748.1 3_prime_UTR_variant ; 63.0bp to feature; MODIFIER silent_mutation Average:92.523; most accessible tissue: Minghui63 young leaf, score: 98.089 N N N N
vg0429662407 C -> CTTT LOC_Os04g49757.1 upstream_gene_variant ; 3732.0bp to feature; MODIFIER silent_mutation Average:92.523; most accessible tissue: Minghui63 young leaf, score: 98.089 N N N N
vg0429662407 C -> CTTT LOC_Os04g49739.1 downstream_gene_variant ; 1831.0bp to feature; MODIFIER silent_mutation Average:92.523; most accessible tissue: Minghui63 young leaf, score: 98.089 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)
vg0429662407 C CT -0.07 0.03 0.03 0.11 0.09 0.05
vg0429662407 C CTT -0.11 -0.17 -0.16 0.16 0.08 -0.14
vg0429662407 C CTTT -0.13 -0.09 -0.15 0.1 0.04 -0.1