Table 3 Biological function annotation.

From: Replication of FTO Gene associated with lean mass in a Meta-Analysis of Genome-Wide Association Studies

Variant

Promoter

Enhancer

DNAse

Proteins

Motifs

GENCODE

dbSNP

Regulome

eQTL

histone marks

histone marks

Bound

Changed

Genes

func annot

DB scorea

p –valueb

rs17817964

 

5 tissues

 

GATA3

5 altered motifs

FTO

intronic

2b

rs7185735

 

6 tissues

  

Gcm1,Mef2

FTO

intronic

rs9936385

 

8 tissues

17 tissues

 

HDAC2,Pax-5

FTO

intronic

5

rs12149832

BRN

11 tissues

BRST

 

XBP-1

FTO

intronic

6

4 × 10−5

rs9939609

 

BRST

  

Nanog,Pou5f1

FTO

intronic

rs11075989

 

BRST, FAT, LNG

  

6 altered motifs

FTO

intronic

6

rs11075990

 

BRST, FAT, LNG

  

Nkx6-1,Pou4f3,Pou6f1

FTO

intronic

6

rs3751812

 

12 tissues

7 tissues

 

Mrg,TBX5,Tgif1

FTO

intronic

3a

rs8050136

 

8 tissues

BRST,CRVX,BRST

P300

6 altered motifs

FTO

intronic

4

rs9935401

 

BRST, SKIN

  

Cdx,HES1

FTO

intronic

rs8051591

 

BRST, CRVX, SKIN

BRST

 

6 altered motifs

FTO

intronic

6

rs17817449

 

11 tissues

5 tissues

 

4 altered motifs

FTO

intronic

5

4 × 10−5

rs8043757

 

11 tissues

BRST,SKIN

 

Evi-1

FTO

intronic

5

rs9923233

 

8 tissues

14 tissues

 

8 altered motifs

FTO

intronic

5

rs17817288

MUS, LIV

17 tissues

6 tissues

FOXA1,FOXA2,TCF4

8 altered motifs

FTO

intronic

5

rs1558902

LNG

16 tissues

GI

 

GATA

FTO

intronic

5 × 10−5

rs7202116

 

6 tissues

BLD

MAFF,MAFK

7 altered motifs

FTO

intronic

2b

rs1421085

LIV

14 tissues

LIV,VAS

 

Arid3a,HNF6

FTO

intronic

5

3 × 10−5

rs9930506

    

Irx

FTO

intronic

6

5 × 10−5

rs9922619

    

6 altered motifs

FTO

intronic

6

rs9922708

 

HRT

HRT

 

HEN1,Pbx-1,TAL1

FTO

intronic

6

4 × 10−5

rs9932754

    

6 altered motifs

FTO

intronic

6

5 × 10−5

rs9930501

    

Nanog,SRF

FTO

intronic

4 × 10−5

rs9931494

 

FAT

  

11 altered motifs

FTO

intronic

6

rs7201850

 

7 tissues

  

Foxo,RORalpha1

FTO

intronic

1 × 10−5

rs9941349

 

BRN

   

FTO

intronic

rs8044769

 

8 tissues

6 tissues

JUND,CJUN

4 altered motifs

FTO

intronic

4

1 × 10−5

rs9922047

FAT

13 tissues

   

FTO

intronic

5

rs11075987

LNG

14 tissues

8 tissues

STAT3

  

intronic

4

5 × 10−5

  1. aPrediction for SNP from Regulome DB with score=2b: TF binding + any motif + DNAse Footprint + DNase peak; score = 3a: TF binding + any motif + DNase peak; score = 4: TF binding + DNase peak; score = 5: TF binding or DNase peak; score = 6: other.
  2. bThe GWAS SNPs are the significant eQTLs for FTO in skeletal muscle from GTEx.