NERVANALYTICAMissing RegulationGitHub ↗
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1-rs12138231

Bulk expression

chr1:150,143,220 · index rs12138231 · GWAS p = 2.0×10⁻¹⁰

Colocalization evidence (best PP4 per channel)

Bulk expression
0.92
coloc-SuSiE
0.91
Single-cell
0.59
Fetal eQTL
0.35
Splicing
0.16
Methylation
0.96

Vertical line marks the PP4 = 0.8 threshold.

How to read these bars
What this data is
The strongest between this locus’s GWAS signal and each evidence channel, taking the best across every dataset in the channel.
How to read it
Bars fill toward 1. Solid bars pass the 0.8 threshold used sitewide; faded bars fall short; a dash means no dataset in the channel yielded a valid test here, usually because too few variants were shared between the studies. Treat a passing bar as evidence that the GWAS signal and that molecular trait plausibly share one causal variant, not as proof that the trait causes the disease.

Fine-mapping and annotation

GWAS credible sets (SuSiE)
1
CS mass in fetal regulatory chromatin
0.031
CS mass in adult regulatory chromatin
0.042
Best bulk-eQTL gene
ENSG00000285184
Best single-cell type
Excitatory neurons
External
UCSC browser ↗
What these annotations mean
Reading guide
come from fine-mapping of the GWAS: each is the smallest set of variants 95% likely to contain the causal variant for one independent signal, so a count above one means this locus carries multiple signals. The two chromatin numbers give the fraction of credible-set probability falling in (enhancer or promoter states) of fetal versus adult brain; a high fetal value beside a low adult one hints at a developmental window. The best bulk gene and best single-cell type are the strongest direct expression matches, listed even when they fall below threshold.

Gene nominations via methylation chain (11)

GeneTierChain scoreCpGCpG–TSS distDirect eQTL PP4
RPRD2high0.96cg14416302199 kb0.24
CTSShigh0.94cg23369564615 kb0.10
VPS45high0.94cg2336956484 kb0.52
PLEKHO1high0.92cg233695642 kb0.66
PRPF3high0.88cg14416302240 kb0.09
ANP32Ehigh0.85cg2336956485 kb0.70
SEMA6Csuggestive0.80cg25066665784 kb0.14
TARS2suggestive0.77cg20785674336 kb0.15
NOTCH2NLCsuggestive0.73cg250666650.18
MINDY1suggestive0.68cg23369564857 kb0.11
PSMD4suggestive0.61cg26799398748 kb0.18
How to read these nominations
Reading guide
Each row is a : the GWAS signal colocalizes with a CpG’s methylation signal, and the same methylation signal colocalizes with this gene’s expression in independent data. The chain score is the weaker of the two links, and the bands it (high means at least 0.8). CpG-to- distance is a plausibility check, since regulatory contacts weaken with distance, and the direct eQTL PP4 column shows what direct expression testing said at this locus. Nominations are ranked hypotheses for follow-up, not confirmed target genes.