Skip to main content

Table 5 Clusters of trans-eQTLs with many targets

From: Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies

Cluster

Cluster address (hg19)

Width

N

Ng

Tr

Tr-max

Tr-Ext

Ret

GWAS traits

Top GSEA categories

1

chr1:118158079-118174222

16,144

8

0

10

8

0

1

 

Platelet

2

chr1:158810312-158827365

17,054

2

0

7

7

0

0

  

3

chr1:205040943-205268803

227,861

114

4

14

11

0

5

Mean platelet volume, Platelet counts

.

4

chr1:248038210-248047688

9479

4

3

15

12

2

1

Mean corpuscular volume, Platelet counts, Red blood cell traits

.

5

chr2:8740722-8766192

25,471

23

0

24

21

0

2

 

Catabolic process

6

chr2:60708597-60727629

19,033

19

24

18

15

7

1

Beta thalassemia/hemoglobin E disease, F-cell distribution, Fetal hemoglobin levels, Sickle cell anemia (hemolysis)

.

7

chr2:85715315-85809703

94,389

51

1

15

12

0

0

Prostate cancer

Neutrophil

8

chr2:160326049-160674656

348,608

381

0

26

21

1

0

 

Liver cancer progression, fibroblast cell response, Neutrophil, MicroRNA targets

9

chr3:49734040-50308718

574,679

435

2

38

34

0

0

HDL cholesterol, Menarche (age at onset)

Dendritic cells response

10

chr3:56829892-56953738

123,847

185

9

128

127

85

3

Mean platelet volume, Platelet counts

Platelet, hemostasis, Neutrophil

11

chr3:100905910-101550022

644,113

544

0

37

33

17

0

 

Genes in band chr19q13, transcription pathway

12

chr3:121350573-121471367

120,795

35

0

8

8

0

1

  

13

chr3:176869498-176928657

59,160

104

0

9

8

0

0

  

14

chr4:103391275-103540762

149,488

77

1

7

7

0

0

Ulcerative colitis

.

15

chr5:148198999-148213506

14,508

42

0

35

32

0

0

 

Neutrophil, kidney glomeruli cell response

16

chr5:173287763-173363889

76,127

9

2

14

13

0

5

Crohn’s disease, Waist–hip ratio

.

17

chr6:135402339-135459837

57,499

27

24

26

23

7

6

Beta thalassemia/hemoglobin E disease, Cholesterol, total, F-cell distribution, HbA2 levels, Hematocrit, Hematological parameters, Hematology traits, Hodgkin's lymphoma, Mean corpuscular hemoglobin, Mean corpuscular hemoglobin concentration, Mean corpuscular volume, Mean platelet volume, Other erythrocyte phenotypes, Platelet counts, Red blood cell traits, White blood cell count, White blood cell types

CD71+, MicroRNA targets

18

chr6:139764573-139844429

79,857

48

9

73

50

13

17

Adiponectin levels, HDL cholesterol, Mean corpuscular hemoglobin, Mean corpuscular volume

CD71+, Neutrophil, MicroRNA targets

19

chr6:144190433-144674657

484,225

172

0

43

34

1

0

 

Neutrophil, MicroRNA targets

20

chr6:159498130-159539213

41,084

14

0

10

9

0

0

 

Hematopoetic cells response, Neutrophil

21

chr6:167362976-167403400

40,425

6

3

7

6

0

0

Crohn’s disease, Graves’ disease, Inflammatory bowel disease

Hematopoetic cells response

22

chr7:28716154-28874761

158,608

11

0

19

17

0

0

 

Neutrophil

23

chr7:33035342-33096644

61,303

5

0

12

11

0

5

 

.

24a

chr7:50366637-50417632

50,996

3

0

40

40

2

2

 

Dendritic cell vs monocyte response, Neutrophil

25a

chr7:50367656-50671350

303,695

292

6

93

82

19

17

Acute lymphoblastic leukemia (B-cell precursor), Acute lymphoblastic leukemia (childhood), Mean corpuscular volume, Red blood cell traits

CD71+, MicroRNA targets

26

chr7:106367604-106373718

6115

8

6

6

6

0

1

Mean platelet volume

.

27

chr8:61595671-61658073

62,403

10

0

6

6

0

0

  

28

chr9:99087217-99192919

105,703

12

1

7

7

0

0

Height

Bone marrow progenitor cells response

29

chr9:126971204-127002414

31,211

20

0

20

16

1

0

 

Kidney glomeruli cells response, Neutrophil, MicroRNA targets

30

chr9:131561110-131645659

84,550

58

0

10

10

0

0

 

Hematopoetic cells response, Neutrophil

31

chr9:140655551-140696524

40,974

14

0

7

6

0

0

 

.

32

chr10:37976990-38692432

715,443

221

0

9

7

0

0

 

.

33

chr10:65016174-65104500

88,327

18

6

6

6

1

0

Mean platelet volume, Platelet counts, Triglycerides

Platelet

34

chr11:212408-247028

34,621

15

1

6

6

1

0

Platelet counts

Coagulation, Platelet

35

chr11:108021205-108367453

346,249

248

3

8

7

3

0

Melanoma, Response to metformin, Response to metformin in type 2 diabetes (glycemic)

Neutrophil

36

chr12:54584330-54584330

1

1

0

7

7

0

0

 

Genes with certain promoter motif

37a

chr12:54622328-54733728

111,401

6

2

7

6

0

0

Mean platelet volume, Platelet counts

Genes in band chr14q24

38a

chr12:54668471-54761931

93,461

27

3

29

14

2

0

Mean platelet volume, Platelet counts

Platelet

39

chr12:111833788-112896839

1,063,052

25

35

17

15

7

0

Beta-2 microglobulin plasma levels, Blood pressure, Celiac disease, Celiac disease and Rheumatoid arthritis, Cholesterol, total, Chronic kidney disease, Coronary artery disease or ischemic stroke, Coronary artery disease or large artery stroke, Coronary heart disease, Diastolic blood pressure, Eosinophil counts, Hematocrit, Hematological parameters, Hemoglobin, Hypothyroidism, Ischemic stroke, LDL cholesterol, Mean platelet volume, Platelet counts, Red blood cell traits, Retinal vascular caliber, Rheumatoid arthritis, Systolic blood pressure, Tetralogy of Fallot, Type 1 diabetes, Type 1 diabetes autoantibodies, Upper aerodigestive tract cancers, Urate levels, Vitiligo

Interferon signaling, Cytokine signaling, Immune system

40

chr12:122216910-122366612

149,703

3

5

12

12

0

0

Mean platelet volume, Platelet counts

Platelet, Neutrophil

41

chr12:129277164-129305613

28,450

56

1

17

16

0

0

Systemic lupus erythematosus

.

42

chr14:24888248-24904602

16,355

19

0

13

13

0

3

  

43

chr14:35372518-35847784

475,267

360

2

18

17

1

0

Psoriasis

Pancreatic cancer cell response, Neutrophil, MicroRNA targets

44

chr16:57045349-57070617

25,269

31

0

11

11

1

0

 

IFNG responsive

45

chr16:87749634-87770469

20,836

6

0

9

9

0

0

  

46a

chr16:89802396-89992238

189,843

4

14

11

8

0

0

Freckling, Hair color, Homocysteine levels, Vitiligo

.

47a

chr16:89919081-89993206

74,126

102

9

9

8

0

0

Basal cell carcinoma, Blond vs. brown hair color, Freckles, Hair color, Non-melanoma skin cancer, Red vs non-red hair color, Skin sensitivity to sun, Sunburns, Tanning

.

48

chr17:15899871-16239832

339,962

137

0

9

7

1

0

 

Beta catenin signaling, Neutrophil

49

chr17:26887271-27323322

436,052

252

0

44

41

0

11

 

PBMC response, CD71+, Neutrophil, MicroRNA targets

50

chr17:33763678-33819401

55,724

22

0

23

21

0

1

 

PBMC response, MicroRNA targets

51a

chr17:33823254-34067892

244,639

360

2

141

95

8

26

Platelet counts, Mean platelet volume

PBMC response, CD71+, Platelet, MicroRNA targets

52a

chr17:33885467-33899846

14,380

3

2

11

9

0

0

Platelet counts, Mean platelet volume

Platelet, PBMC vs. Tcells

53

chr18:43716475-43856354

139,880

121

0

10

9

0

2

  

54

chr20:4139757-4188267

48,511

70

0

40

33

0

8

 

PBMC response, CD71+

55

chr20:62529985-62565833

35,849

54

0

9

9

0

1

 

Glioma cell response

56

chr21:44471469-44492843

21,375

7

3

6

6

1

0

Blood trace element (Se levels), Homocysteine levels, Obesity-related traits

.

57

chr22:32311619-32326021

14,403

17

0

8

8

0

0

 

Hematopoetic cell response, Neutrophil

58

chr22:49967868-50069539

101,672

128

0

18

16

0

0

  

59

chrX:40802981-40847852

44,872

52

0

31

30

0

7

 

CD71+

  1. aOverlapping clusters
  2. N number of significant eQTLs in cluster, Ng number of GWAS SNPs in cluster, Tr number of transcript clusters targeted by any trans-eQTL in cluster, Tr-max max number of transcript clusters targeted by single trans-eQTL in cluster, Tr-Ext maximum number of transcripts validated in one or more of five previous results [5–8, 59–62], Ret number of early reticulocyte specific transcripts targeted by trans-eQTLs in cluster, GSEA Category selected GSEA themes over-represented in cluster targets, GSEA gene set enrichment analysis