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Detailed information for vg1202638554:

Variant ID: vg1202638554 (JBrowse)	Variation Type: SNP
Chromosome: chr12	Position: 2638554
Reference Allele: A	Alternative Allele: G
Primary Allele: A	Secondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:

TGAAACTTTGCAGTATTAACACTGGCGGCTCACAGTGTAACCAGCCAGCGATAATTCATTTTCCCTAGTGGCCTATCTTAGGCTAAACGCCAGCGAAAAT[A/G]
GATCTTTGCTGGCGGCTGGCTTAAGACGACCACCAGCGAAAATGAATTATCGCTGGCGTTCGATAACTGCTAGCGAAGATCTTGATTTTTATTGGCCTTT

Reverse complement sequence

AAAGGCCAATAAAAATCAAGATCTTCGCTAGCAGTTATCGAACGCCAGCGATAATTCATTTTCGCTGGTGGTCGTCTTAAGCCAGCCGCCAGCAAAGATC[T/C]
ATTTTCGCTGGCGTTTAGCCTAAGATAGGCCACTAGGGAAAATGAATTATCGCTGGCTGGTTACACTGTGAGCCGCCAGTGTTAATACTGCAAAGTTTCA

Allele Frequencies:

Populations	Population Size	Frequency of A(primary allele)	Frequency of G(secondary allele)	Frequency of N	Frequency of DEL	Frequency of others Allele
All	4726	92.90%	7.00%	0.04%	0.00%	NA
All Indica	2759	92.60%	7.40%	0.04%	0.00%	NA
All Japonica	1512	99.90%	0.10%	0.00%	0.00%	NA
Aus	269	53.50%	46.10%	0.37%	0.00%	NA
Indica I	595	97.10%	2.90%	0.00%	0.00%	NA
Indica II	465	88.20%	11.80%	0.00%	0.00%	NA
Indica III	913	92.10%	7.90%	0.00%	0.00%	NA
Indica Intermediate	786	92.40%	7.50%	0.13%	0.00%	NA
Temperate Japonica	767	100.00%	0.00%	0.00%	0.00%	NA
Tropical Japonica	504	99.80%	0.20%	0.00%	0.00%	NA
Japonica Intermediate	241	100.00%	0.00%	0.00%	0.00%	NA
VI/Aromatic	96	99.00%	1.00%	0.00%	0.00%	NA
Intermediate	90	95.60%	4.40%	0.00%	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
vg1202638554	A -> G	LOC_Os12g05720.1	upstream_gene_variant ; 3218.0bp to feature; MODIFIER	silent_mutation	Average:87.38; most accessible tissue: Callus, score: 94.283	N	N	N	N
vg1202638554	A -> G	LOC_Os12g05709.1	downstream_gene_variant ; 1667.0bp to feature; MODIFIER	silent_mutation	Average:87.38; most accessible tissue: Callus, score: 94.283	N	N	N	N
vg1202638554	A -> G	LOC_Os12g05715.1	downstream_gene_variant ; 96.0bp to feature; MODIFIER	silent_mutation	Average:87.38; most accessible tissue: Callus, score: 94.283	N	N	N	N
vg1202638554	A -> G	LOC_Os12g05715-LOC_Os12g05720	intergenic_region ; MODIFIER	silent_mutation	Average:87.38; most accessible tissue: Callus, score: 94.283	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)
vg1202638554	A	G	0.03	0.03	0.04	0.02	0.04	0.04

Putative Genotype-Phenotype Associations:

Var ID	LMM P-value	LR P-value	Trait	Subpopulation	Is leadSNP	Publication
vg1202638554	2.23E-06	1.80E-06	mr1309	Ind_All	YES	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1202638554	NA	2.59E-06	mr1574	All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1202638554	NA	1.52E-07	mr1774	All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1202638554	1.24E-06	4.32E-06	mr1920	Ind_All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1202638554	NA	8.77E-06	mr1988	All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1202638554	NA	6.80E-06	mr1836_2	Ind_All	Not	Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251