NERVANALYTICAMissing RegulationGitHub ↗
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19-rs8101499

Bulk expression

chr19:19,366,175 · index rs8101499 · GWAS p = 7.7×10⁻¹⁶

Colocalization evidence (best PP4 per channel)

Bulk expression
0.94
coloc-SuSiE
0.93
Single-cell
0.91
Fetal eQTL
0.20
Splicing
0.78
Methylation
0.98

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
0.097
CS mass in adult regulatory chromatin
0.115
Best bulk-eQTL gene
ENSG00000167491
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
MAU2high0.98cg03186620226 kb0.61
GATAD2Ahigh0.95cg08509172113 kb0.94
ZNF737high0.93cg261620251132 kb0.13
SUGP1high0.90cg1662969560 kb0.84
PBX4high0.90cg01297721356 kb0.19
HAPLN4high0.89cg16745793397 kb0.00
ZNF14high0.87cg08509172460 kb0.09
CILP2high0.82cg16745793122 kb0.42
TM6SF2suggestive0.79cg085091720 kb0.82
TSSK6suggestive0.75cg16745793144 kb0.12
ZNF101suggestive0.72cg08509172396 kb0.17
KXD1suggestive0.66cg0674754379 kb0.11
NDUFA13suggestive0.63cg2673261522 kb0.21
GMIPsuggestive0.61cg1674579316 kb0.13
UBA52suggestive0.51cg0674754393 kb0.07
ATP13A1suggestive0.51cg26732615126 kb0.30
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.