Table 1 Summary of variant-to-gene mapping results of GWAS signals for each trait.

From: Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits

Trait

GWAS signals

In reference panel

Unique proxies

Open proxies with cis-interactionsa

Sentinels with cis-interactionsa

Contacted genesb

Unique contacted genesb

Height

3290

3254

165039

1081, 1098, 1073

594, 562, 564

543, 439, 507

981

BMI

941

928

63148

619, 474, 575

271, 211, 248

800, 526, 802

1126

AAM

499

463

13040

242, 194, 258

109, 105, 114

365, 267, 268

452

Sleep

459

445

26445

313, 223, 305

98, 84, 99

361, 212, 319

461

MDD

44

42

3059

22, 18, 17

11, 10, 8

15, 16, 16

24

BP

39

30

1697

1, 1, 1

1, 1, 1

2, 0, 11

12

  1. GWAS signals: independent lead SNPs were used as sentinel SNPs. Proxies: total SNPs in LD (R2 > 0.6) of lead SNPs. Open proxies with cis-interactions: SNPs located in cRE contacting a gene promoter. The number of sentinels with cis-interactions indicates the number of independent GWAS signals with an open proxy in a cis-interaction. The number of contacted genes per cell type, and the unique number of contacted genes from all cell types.
  2. aESCs, HPs, and HNs, respectively.
  3. bExpressed at TPM > 1.
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