Dataset ID
NHA000163
- Type of data
- Fine-mapping for 79 phenotypes
- Access criteria
- Unrestricted-access
- Total data volume
- 4.1 GB
- File formats
- HTML
- ZIP
- Research
- hum0197
- Date published
- 2021-12-21
- Date modified
- 2021-12-21
- Secondary ID
- hum0197.v5.finemap.v1
Unrestricted-access files linked to this dataset
| File | Label | Size | Copy URL |
|---|---|---|---|
| hum0197.v5.finemap.Cat.v1.zip | Disease name: Cataract / Abbreviation: Cataract / ICD10: H25/H26 | 3.0 MB | |
| hum0197.v5.finemap.CeAn.v1.zip | Disease name: Cerebral aneurysm / Abbreviation: CeAn / ICD10: I67.1 | 4.9 MB | |
| hum0197.v5.finemap.Cir.v1.zip | Disease name: Cirrhosis / Abbreviation: Cirrhosis / ICD10: K74.6 | 5.3 MB | |
| hum0197.v5.finemap.DBP.v1.zip | Disease name: Diastolic blood pressure / Abbreviation: DBP | 31.4 MB | |
| hum0197.v5.finemap.EC.v1.zip | Disease name: Esophageal cancer / Abbreviation: EsC / ICD10: C15 | 3.7 MB | |
| hum0197.v5.finemap.EM.v1.zip | Disease name: Endometriosis / Abbreviation: Endometriosis / ICD10: N80 | 3.0 MB | |
| hum0197.v5.finemap.EOS.v1.zip | Disease name: Eosinophil / Abbreviation: Eosino | 56.8 MB | |
| hum0197.v5.finemap.GC.v1.zip | Disease name: Gastric cancer / Abbreviation: GaC / ICD10: C16 | 5.7 MB | |
| hum0197.v5.finemap.GD.v1.zip | Disease name: Graves' disease / Abbreviation: GD / ICD10: E05.0 | 14.3 MB | |
| hum0197.v5.finemap.GGT.v1.zip | Disease name: γ-glutamyl transpeptidase / Abbreviation: GGT | 79.5 MB | |
| hum0197.v5.finemap.GU.v1.zip | Disease name: Gastric ulcer / Abbreviation: Gastric_Ulcer / ICD10: K25 | 3.8 MB | |
| hum0197.v5.finemap.Gla.v1.zip | Disease name: Glaucoma / Abbreviation: Glaucoma / ICD10: H40 | 11.1 MB | |
| hum0197.v5.finemap.Glucose.v1.zip | Disease name: Glucose / Abbreviation: Glucose | 19.4 MB | |
| hum0197.v5.finemap.HDLC.v1.zip | Disease name: HDL-cholesterol / Abbreviation: HDLC | 60.8 MB | |
| hum0197.v5.finemap.Hb.v1.zip | Disease name: Hemoglobin / Abbreviation: Hb | 54.6 MB | |
| hum0197.v5.finemap.HbA1c.v1.zip | Disease name: HbA1c / Abbreviation: HbA1c | 32.4 MB | |
| hum0197.v5.finemap.Hei.v2.zip | Disease name: Height / Abbreviation: Height / v2: replaced with the fixed files | 569 MB | |
| hum0197.v5.finemap.Ht.v1.zip | Disease name: Hematocrit / Abbreviation: Ht | 68.8 MB | |
| hum0197.v5.finemap.ILD.v1.zip | Disease name: Interstitial lung disease / Abbreviation: IPF / ICD10: J84.1/J84.8/J84.9 | 4.1 MB | |
| hum0197.v5.finemap.IS.v1.zip | Disease name: Ischemic stroke / Abbreviation: IS / ICD10: I63 | 6.3 MB |
21–40 / 80
Analysis method
genome wide SNPs
- Materials and participants
- Biobank Japan (n = 179,000), no. Phenotypes: 79
- Health statusMixed
- Subject count179,000 (Individual)
- CohortBioBank Japan
- Sample description
- DNAs extracted from peripheral blood cells
- TissuePeripheral blood
- Tumor / normalNormal
- Sample provider
- N/A
- Experimental method
- Genotyping by array
- Target
- N/A
- Reagent kit
- HumanExome BeadChip Kit
HumanOmniExpress BeadChip Kit
HumanOmniExpressExome BeadChip Kit - Platform
- Illumina HumanExome
Illumina HumanOmniExpress
Illumina HumanOmniExpressExome - Reference genome
- GRCh37
- QC and filtering
- GWAS: We included imputed variants with Rsq > 0.7. For binary traits, variants with MAC < 10 were additionally excluded.
Fine-mapping: We defined fine-mapping regions based on a 3 Mb window around each lead variant and merged regions if they overlapped. We excluded the major histocompatibility complex (MHC) region (chr 6: 25-36 Mb) from analysis due to extensive LD structure in the region. For each method, we only included variants from successfully fine-mapped regions while excluding those from failed regions (e.g., due to conversion failure or available memory restrictions). - Imputation
- Eagle, Minimac3
- Analysis method
- GWAS: For binary traits, SAIGE software was used with age, age2, sex, age×sex, age2×sex, and top 20 principal components as covariates. For quantitative traits (biomarkers), BOLT-LMM was used with the same covariates.
Fine-mapping: FINEMAP and SuSiE were used with GWAS summary statistics and in-sample dosage LD, allowing up to 10 causal variants per region. - Variant count
- 13,531,752 variants
- Phenotype data
- Included
- Data use policy
- NBDC data sharing policy (JGAP000001)