7p12.2
General Information: Available
| Organism | Human |
| Points of Interest | rs10272724 |
| Karyotype Band Location | 7p12.2 |
| Chromosomal Location (GRCh37) | Chr7:50366637-50695317 |
| Region Size | 0.33 Mb |
| Orthologous Regions |
Mouse: Human 7p12.2 Orthologous Region Rat: Human 7p12.2 Orthologous Region |
| Genes in Region (6) | DDC, FIGNL1, GRB10, IKZF1, LOC100129427, LOC100507042 |
View this region in the Human T1D Regions table.
(Human) GRCh37 - chr7:50366637..50695317 (328.68 kb) View in Genome Browser
| An overview of the region is provided by GBrowse. Tracks shown include gene information and study-specific data: | |
| Immune Disease Associated Variants | Variants shown to be associated with different auto-immune diseases |
|---|---|
| P-values, -log(p) | 1 degree of freedom p-values, stratified by geographic location. Generated using snpMatrix with data from the T1DGC Meta-analysis study. |
| HapMap Recobination Data | Genome-wide recombination rate from Phase 2 HapMap estimated from phased haplotypes in HapMap Release 22 (NCBI 36). Units are in cM/Mb, coordinates have been projected to the current build. |
Non-Synonymous SNPs in region dbSNP135:| Marker | Marker Source | Start | Strand | Peptide Shift | Gene Symbol (HGNC) | Gene ID (Entrez) | Amino Acid Position |
|---|---|---|---|---|---|---|---|
| rs141178380 | dbSNP_135 | 50512972 | + | C/R | FIGNL1 | 63979 | 672 |
| rs75241836 | dbSNP_135 | 50513062 | + | I/V | FIGNL1 | 63979 | 642 |
| rs138265417 | dbSNP_135 | 50513095 | + | I/V | FIGNL1 | 63979 | 631 |
| rs144129248 | dbSNP_135 | 50513122 | + | S/G | FIGNL1 | 63979 | 622 |
| rs147319553 | dbSNP_135 | 50513156 | + | Q/H | FIGNL1 | 63979 | 610 |
| rs140991399 | dbSNP_135 | 50513160 | + | T/I | FIGNL1 | 63979 | 609 |
| rs140862457 | dbSNP_135 | 50513225 | + | C/W | FIGNL1 | 63979 | 587 |
| rs142867266 | dbSNP_135 | 50513400 | + | D/G | FIGNL1 | 63979 | 529 |
| rs151204868 | dbSNP_135 | 50513410 | + | V/L | FIGNL1 | 63979 | 526 |
| rs144082857 | dbSNP_135 | 50513539 | + | R/C | FIGNL1 | 63979 | 483 |
| rs146521755 | dbSNP_135 | 50513569 | + | K/Q | FIGNL1 | 63979 | 473 |
| rs192313152 | dbSNP_135 | 50513589 | + | S/C | FIGNL1 | 63979 | 466 |
| rs141070996 | dbSNP_135 | 50513643 | + | T/S | FIGNL1 | 63979 | 448 |
| rs146680091 | dbSNP_135 | 50513721 | + | L/W | FIGNL1 | 63979 | 422 |
| rs145459309 | dbSNP_135 | 50513797 | + | P/S | FIGNL1 | 63979 | 397 |
| rs148860816 | dbSNP_135 | 50513862 | + | R/H | FIGNL1 | 63979 | 375 |
| rs189665629 | dbSNP_135 | 50513985 | + | R/Q | FIGNL1 | 63979 | 334 |
| rs148147256 | dbSNP_135 | 50514030 | + | S/F | FIGNL1 | 63979 | 319 |
| rs144012928 | dbSNP_135 | 50514136 | + | N/D | FIGNL1 | 63979 | 284 |
| rs146689210 | dbSNP_135 | 50514157 | + | A/T | FIGNL1 | 63979 | 277 |
| rs114977235 | dbSNP_135 | 50514169 | + | I/V | FIGNL1 | 63979 | 273 |
| rs113757480 | dbSNP_135 | 50514174 | + | N/S | FIGNL1 | 63979 | 271 |
| rs143316695 | dbSNP_135 | 50514189 | + | I/T | FIGNL1 | 63979 | 266 |
| rs79851593 | dbSNP_135 | 50514204 | + | Y/C | FIGNL1 | 63979 | 261 |
| rs113845281 | dbSNP_135 | 50514219 | + | Q/L | FIGNL1 | 63979 | 256 |
| rs184297998 | dbSNP_135 | 50514237 | + | A/V | FIGNL1 | 63979 | 250 |
| rs139245614 | dbSNP_135 | 50514268 | + | V/M | FIGNL1 | 63979 | 240 |
| rs149596053 | dbSNP_135 | 50514279 | + | I/T | FIGNL1 | 63979 | 236 |
| rs144297981 | dbSNP_135 | 50514297 | + | S/I | FIGNL1 | 63979 | 230 |
| rs144101936 | dbSNP_135 | 50514327 | + | L/S | FIGNL1 | 63979 | 220 |
| rs35929700 | dbSNP_135 | 50514340 | - | H/Y | FIGNL1 | 63979 | 216 |
| rs111559413 | dbSNP_135 | 50514419 | + | Q/H | FIGNL1 | 63979 | 189 |
| rs142215430 | dbSNP_135 | 50514436 | + | L/F | FIGNL1 | 63979 | 184 |
| rs140068296 | dbSNP_135 | 50514472 | + | R/W | FIGNL1 | 63979 | 172 |
| rs150289225 | dbSNP_135 | 50514475 | + | D/H | FIGNL1 | 63979 | 171 |
| rs78246344 | dbSNP_135 | 50514516 | + | S/F | FIGNL1 | 63979 | 157 |
| rs112257703 | dbSNP_135 | 50514538 | + | K/E | FIGNL1 | 63979 | 150 |
| rs10235371 | dbSNP_135 | 50514577 | + | V/M | FIGNL1 | 63979 | 137 |
| rs112666980 | dbSNP_135 | 50514650 | + | M/I | FIGNL1 | 63979 | 112 |
| rs143806821 | dbSNP_135 | 50514693 | + | D/G | FIGNL1 | 63979 | 98 |
| rs150604752 | dbSNP_135 | 50514844 | + | S/T | FIGNL1 | 63979 | 48 |
| rs113545967 | dbSNP_135 | 50514855 | + | A/V | FIGNL1 | 63979 | 44 |
| rs142036979 | dbSNP_135 | 50514867 | + | R/H | FIGNL1 | 63979 | 40 |
| rs146011869 | dbSNP_135 | 50514882 | + | R/H | FIGNL1 | 63979 | 35 |
| rs139910008 | dbSNP_135 | 50514889 | + | A/T | FIGNL1 | 63979 | 33 |
| rs62445870 | dbSNP_135 | 50514904 | + | G/R | FIGNL1 | 63979 | 28 |
| rs143937111 | dbSNP_135 | 50514918 | + | S/C | FIGNL1 | 63979 | 23 |
| rs148472208 | dbSNP_135 | 50530946 | + | R/X | DDC | 1644 | 476 |
| rs11575542 | dbSNP_135 | 50530987 | - | R/Q | DDC | 1644 | 462 |
| rs147562019 | dbSNP_135 | 50531011 | + | T/M | DDC | 1644 | 454 |
| rs142110773 | dbSNP_135 | 50531015 | + | R/C | DDC | 1644 | 453 |
| rs144293557 | dbSNP_135 | 50534964 | + | R/H | DDC | 1644 | 397 |
| rs147937771 | dbSNP_135 | 50537775 | + | R/H | DDC | 1644 | 379 |
| rs35517528 | dbSNP_135 | 50544323 | + | R/A | DDC | 1644 | 347 |
| rs140562157 | dbSNP_135 | 50547538 | + | T/M | DDC | 1644 | 323 |
| rs188088947 | dbSNP_135 | 50547559 | + | V/E | DDC | 1644 | 316 |
| rs137853209 | dbSNP_135 | 50563067 | - | F/L | DDC | 1644 | 309 |
| rs192811217 | dbSNP_135 | 50566866 | + | H/Y | DDC | 1644 | 286 |
| rs137853212 | dbSNP_135 | 50566899 | - | A/T | DDC | 1644 | 275 |
| rs150447169 | dbSNP_135 | 50566914 | + | V/I | DDC | 1644 | 270 |
| rs145025264 | dbSNP_135 | 50571709 | + | L/V | DDC | 1644 | 255 |
| rs137853208 | dbSNP_135 | 50571723 | - | S/F | DDC | 1644 | 250 |
| rs11575377 | dbSNP_135 | 50571755 | - | M/I | DDC | 1644 | 239 |
| rs11575376 | dbSNP_135 | 50571757 | - | M/L | DDC | 1644 | 239 |
| rs141265809 | dbSNP_135 | 50595875 | + | A/V | DDC | 1644 | 225 |
| rs150760434 | dbSNP_135 | 50595897 | + | R/S | DDC | 1644 | 218 |
| rs6263 | dbSNP_135 | 50595900 | - | M/V | DDC | 1644 | 217 |
| rs6262 | dbSNP_135 | 50595920 | - | P/L | DDC | 1644 | 210 |
| rs139433641 | dbSNP_135 | 50596926 | + | V/L | DDC | 1644 | 184 |
| rs137853210 | dbSNP_135 | 50597037 | - | S/R | DDC | 1644 | 147 |
| rs79842423 | dbSNP_135 | 50605623 | + | K/E | DDC | 1644 | 124 |
| rs192659401 | dbSNP_135 | 50607619 | + | F/L | DDC | 1644 | 103 |
| rs137853207 | dbSNP_135 | 50607624 | - | G/S | DDC | 1644 | 102 |
| rs137853211 | dbSNP_135 | 50607656 | - | A/V | DDC | 1644 | 91 |
| rs140276979 | dbSNP_135 | 50607696 | + | A/S | DDC | 1644 | 78 |
| rs147802058 | dbSNP_135 | 50611584 | + | G/E | DDC | 1644 | 67 |
| rs11575292 | dbSNP_135 | 50611601 | - | E/D | DDC | 1644 | 61 |
| rs142925706 | dbSNP_135 | 50611606 | + | V/I | DDC | 1644 | 60 |
| rs6264 | dbSNP_135 | 50611735 | - | V/M | DDC | 1644 | 17 |
| rs138828136 | dbSNP_135 | 50611765 | + | R/X | DDC | 1644 | 7 |
| rs67745219 | dbSNP_135 | 50660752 | + | N/K | GRB10 | 2887 | 561 |
| rs11768472 | dbSNP_135 | 50660762 | + | D/H | GRB10 | 2887 | 558 |
| rs148015359 | dbSNP_135 | 50672022 | + | S/Y | GRB10 | 2887 | 481 |
| rs67489640 | dbSNP_135 | 50680532 | + | GRB10 | 2887 | 367 | |
| rs68152017 | dbSNP_135 | 50683970 | + | W/X | GRB10 | 2887 | 307 |
| rs115496482 | dbSNP_135 | 50694545 | + | V/E | GRB10 | 2887 | 212 |
Genes in LD Region: Available
LD regions were calculated using different r² and D' threshold values, and
these regions were then examined for genes.
The definition of a gene location includes a 3kb flanking region either side of the gene.
| Marker Data | Region Data | Links | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| r2 Threshold | D' Threshold | Region | Genes | ||||||||||||||
|
N/A | 0.5 | chr7: 50419792..50664922 | LOC100129427 IKZF1 DDC GRB10 FIGNL1 |
|
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| 0.4 | N/A | chr7: 50454452..50574254 | IKZF1 DDC FIGNL1 | ||||||||||||||
| 0.8 | N/A | chr7: 50465830..50478627 | IKZF1 | ||||||||||||||
| 1 | N/A | chr7: 50465830..50477687 | IKZF1 | ||||||||||||||
Signal Clouds: Available
Genotype data for collections is plotted
to give a visual sense of the quality of clustering. The two homozygous and
the heterozygous genotypes are represented by different colours; a clear
separation between the clouds is indicative of good clustering.
Source: ImmunoChip
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Source: T1DGC 4K-4K Study - 2008
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Publications: Not yet published

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