Table 1 Summary information of highly differentiated functional SNPs at ZTGS. It is noted that in the column “allele”, the first allele is the ancestral state, while the second one with highlight is the derived state. PRD, probably disease-causing; BNG, benign; iTMD, in transmembrane domain; NT, N-terminus; nTMD, near transmembrane domain; IV, intro variant; UGV, upstream gene variant; RRV, regulatory region variant; LS- FST, Locus-specific FST

From: Differential Natural Selection of Human Zinc Transporter Genes between African and Non-African Populations

rsID

Gene

Position

Allele

FEUR

FASN

FAFR

FAMR

LS-FST

Type

Database

Effect or Related

PolyPhen-2

Topology and location

rs1871534

SLC39A4

8:145639681

G/C

0.002

0.000

0.873

0.081

0.763

Missense

RegulomeDB

Leu/Val

PRD: 0.991

iTMD (Fig. S4A)

rs1047626

SLC30A9

4:42003671

A/G

0.750

0.953

0.126

0.737

0.387

Missense

-

Met/Val

BNG: 0.000

NT ()

Figure 6
figure 6

Analysis of putative selected haplotypes carrying 7 14nSNPs in SLC30A9.

(A) Haplotypes shared among different continental groups. African populations are more likely to harbor haplotype CAGAGAC, while in non-African populations, haplotype CGGAGAC is much more pervasive, especially in East Asians in whom the haplotype frequency is nearly fixed. (B) Graphical depictions of SLC30A9 haplotypes constructed from 7 14nSNPs with haplotype frequencies derived from the 1000 Genomes Project. Hap1 (CAGAGAC) is the same as the haplotype in a chimpanzee (Chimp) and a Neanderthal (Nean). Hap2 (CGGAGAC) is different from Hap1 at rs1047626 of which the derived allele can alter an amino acid change from methionine acid to valine (M50V). (C) Predicted membrane topology of human SLC30A9 generated using HMMTOP and visualized with TeXtopo. Location of rs1047626 carried by the possible selected haplotype is indicated.

rs2466517

SLC39A11

17:70943990

T/C

0.001

0.002

0.343

0.055

0.212

Missense

RegulomeDB

Thr/Ala

BNG: 0.000

nTMD (Fig. S4B)

rs11011935

SLC39A12

10:18280113

T/C

0.000

0.000

0.238

0.022

0.158

Missense

RegulomeDB

Phe/Leu

BNG: 0.000

nTMD (Fig. S4C)

rs2010519

SLC39A13

11:47431728

G/A

0.001

0.012

0.221

0.000

0.135

Missense

-

Glu/Gly

BNG: 0.000

NT (Fig. S4D)

rs2272662

SLC39A4

8:145639726

T/C

0.541

0.496

0.087

0.416

0.130

Missense

RegulomeDB

Thr/Ala

BNG: 0.012

iTMD (Fig. S4A)

rs75920625

SLC39A4

8:145639654

T/C

0.001

0.000

0.135

0.018

0.092

Missense

RegulomeDB

Thr/Ala

BNG: 0.012

nTMD (Fig. S4A)

rs61756712

SLC30A4

15:45814306

A/G

0.001

0.008

0.342

0.045

0.224

Splice

RegulomeDB

-

-

 

rs759071

SLC39A3

19:2728577

G/A

0.327

0.632

0.817

0.283

0.168

eQTL

RegulomeDB

-

-

 

rs6832846

SLC39A8

4:103181749

A/G

0.787

0.526

0.986

0.705

0.112

eQTL

RegulomeDB

-

-

 

rs151368

SLC39A8

4:103181113

A/T

0.787

0.526

0.986

0.705

0.112

eQTL

RegulomeDB

-

-

 

rs11889699

SLC39A10

2:196528101

A/G

0.588

0.366

0.127

0.377

0.108

eQTL

RegulomeDB

-

-

 

rs17278473

SLC39A8

4:103243101

C/T

0.400

0.024

0.179

0.324

0.097

eQTL

RegulomeDB

-

-

 

rs151372

SLC39A8

4:103174196

C/T

0.787

0.528

0.951

0.700

0.093

eQTL

RegulomeDB

-

-

 

rs950027

SLC30A4

15:45801035

T/C

0.452

0.947

0.953

0.652

0.210

IV

GWAS

Response to fenofibrate

-

 

rs11264736

SLC39A1

1:153939130

T/C

0.494

0.949

0.730

0.666

0.123

UGV

GWAS

Lentiform nucleus volume

-

 

rs17060812

SLC39A14

8:22228828

C/T

0.039

0.066

0.341

0.070

0.111

RRV

PharmGKB

Nortriptyline

-