NERVANALYTICAMissing RegulationGitHub ↗
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19-rs7251

Bulk expression

chr19:49,659,652 · index rs7251 · GWAS p = 1.5×10⁻¹⁴

Colocalization evidence (best PP4 per channel)

Bulk expression
0.97
coloc-SuSiE
0.83
Single-cell
0.84
Fetal eQTL
0.35
Splicing
0.99
Methylation
1.00

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)
3
CS mass in fetal regulatory chromatin
0.194
CS mass in adult regulatory chromatin
0.321
Best bulk-eQTL gene
ENSG00000126456
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 (16)

GeneTierChain scoreCpGCpG–TSS distDirect eQTL PP4
IZUMO1high0.99cg185377300 kb0.15
RASIP1high0.94cg076117903 kb0.15
MAMSTRhigh0.92cg1686758423 kb0.12
NTN5high0.90cg270086310 kb0.04
FUT2high0.90cg2700863123 kb0.20
FAM83Ehigh0.86cg05643373102 kb0.16
TULP2high0.84cg00863469286 kb0.10
FUT1high0.84cg00863469142 kb0.11
CPT1Csuggestive0.80cg25740437541 kb0.74
ADM5suggestive0.74cg174178560 kb0.31
PPFIA3suggestive0.65cg175275634 kb0.08
CGB7suggestive0.60cg03172226601 kb0.22
CA11suggestive0.60cg0084612131 kb0.22
SNRNP70suggestive0.56cg1752756330 kb0.19
SPACA4suggestive0.53cg0861993290 kb0.07
PIH1D1suggestive0.50cg17430167302 kb0.07
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.