Variant report
Variant | rs2084650 |
---|---|
Chromosome Location | chr12:11130766-11130767 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs1013311 | 0.84[ASN][1000 genomes] |
rs10161144 | 0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1044682 | 0.96[ASN][1000 genomes] |
rs1044683 | 0.96[ASN][1000 genomes] |
rs10492100 | 0.90[ASN][1000 genomes] |
rs10492101 | 0.90[ASN][1000 genomes] |
rs10492102 | 0.90[ASN][1000 genomes] |
rs10743937 | 0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10772380 | 0.88[ASN][1000 genomes] |
rs10772383 | 0.89[ASN][1000 genomes] |
rs10772393 | 0.96[ASN][1000 genomes] |
rs10772394 | 0.94[ASN][1000 genomes] |
rs10772395 | 0.80[AFR][1000 genomes] |
rs10772396 | 0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10772397 | 0.82[ASN][1000 genomes] |
rs10772401 | 0.82[ASN][1000 genomes] |
rs10772402 | 0.82[ASN][1000 genomes] |
rs10772403 | 0.82[ASN][1000 genomes] |
rs10772404 | 0.82[ASN][1000 genomes] |
rs10772407 | 0.82[ASN][1000 genomes] |
rs10772418 | 0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs10772419 | 0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10772420 | 0.87[AFR][1000 genomes] |
rs10772422 | 0.88[AFR][1000 genomes] |
rs10772423 | 0.82[AFR][1000 genomes] |
rs10845247 | 0.86[ASN][1000 genomes] |
rs10845249 | 0.86[ASN][1000 genomes] |
rs10845250 | 0.86[ASN][1000 genomes] |
rs10845251 | 0.91[ASN][1000 genomes] |
rs10845252 | 0.96[ASN][1000 genomes] |
rs10845253 | 0.96[ASN][1000 genomes] |
rs10845254 | 0.96[ASN][1000 genomes] |
rs10845255 | 0.95[ASN][1000 genomes] |
rs10845256 | 0.96[ASN][1000 genomes] |
rs10845258 | 0.96[ASN][1000 genomes] |
rs10845259 | 0.96[ASN][1000 genomes] |
rs10845260 | 0.96[ASN][1000 genomes] |
rs10845261 | 0.96[ASN][1000 genomes] |
rs10845262 | 0.96[ASN][1000 genomes] |
rs10845263 | 0.96[ASN][1000 genomes] |
rs10845264 | 0.96[ASN][1000 genomes] |
rs10845266 | 0.82[ASN][1000 genomes] |
rs10845267 | 0.82[ASN][1000 genomes] |
rs10845268 | 0.82[ASN][1000 genomes] |
rs10845269 | 0.82[ASN][1000 genomes] |
rs10845270 | 0.82[ASN][1000 genomes] |
rs10845271 | 0.82[ASN][1000 genomes] |
rs10845272 | 0.82[ASN][1000 genomes] |
rs10845273 | 0.82[ASN][1000 genomes] |
rs10845274 | 0.82[ASN][1000 genomes] |
rs10845275 | 1.00[ASN][1000 genomes] |
rs10845276 | 0.82[ASN][1000 genomes] |
rs10845277 | 0.82[ASN][1000 genomes] |
rs10845283 | 0.94[ASN][1000 genomes] |
rs10845292 | 0.88[AFR][1000 genomes] |
rs10845293 | 0.86[AFR][1000 genomes] |
rs10845295 | 0.80[AFR][1000 genomes] |
rs10845297 | 0.83[AFR][1000 genomes] |
rs11054069 | 0.89[ASN][1000 genomes] |
rs11054070 | 0.89[ASN][1000 genomes] |
rs11054082 | 0.92[ASN][1000 genomes] |
rs11054084 | 0.96[ASN][1000 genomes] |
rs11054088 | 0.96[ASN][1000 genomes] |
rs11054089 | 0.96[ASN][1000 genomes] |
rs11054090 | 0.96[ASN][1000 genomes] |
rs11054092 | 0.96[ASN][1000 genomes] |
rs11054093 | 0.96[ASN][1000 genomes] |
rs11054094 | 0.96[ASN][1000 genomes] |
rs11054095 | 0.96[ASN][1000 genomes] |
rs11054096 | 0.95[ASN][1000 genomes] |
rs11054097 | 0.96[ASN][1000 genomes] |
rs11054098 | 0.96[ASN][1000 genomes] |
rs11054099 | 0.96[ASN][1000 genomes] |
rs11054101 | 0.96[ASN][1000 genomes] |
rs11054102 | 0.96[ASN][1000 genomes] |
rs11054103 | 0.95[ASN][1000 genomes] |
rs11054104 | 0.96[ASN][1000 genomes] |
rs11054105 | 0.96[ASN][1000 genomes] |
rs11054106 | 0.96[ASN][1000 genomes] |
rs11054107 | 0.96[ASN][1000 genomes] |
rs11054108 | 0.96[ASN][1000 genomes] |
rs11054109 | 0.96[ASN][1000 genomes] |
rs11054110 | 0.96[ASN][1000 genomes] |
rs11054111 | 0.96[ASN][1000 genomes] |
rs11054112 | 0.96[ASN][1000 genomes] |
rs11054113 | 0.96[ASN][1000 genomes] |
rs11054114 | 0.96[ASN][1000 genomes] |
rs11054115 | 0.96[ASN][1000 genomes] |
rs11054116 | 0.96[ASN][1000 genomes] |
rs11054117 | 0.94[ASN][1000 genomes] |
rs11054118 | 0.96[ASN][1000 genomes] |
rs11054119 | 0.96[ASN][1000 genomes] |
rs11054120 | 0.96[ASN][1000 genomes] |
rs11054121 | 0.96[ASN][1000 genomes] |
rs11054122 | 0.96[ASN][1000 genomes] |
rs11054123 | 0.96[ASN][1000 genomes] |
rs11054124 | 0.96[ASN][1000 genomes] |
rs11054125 | 0.96[ASN][1000 genomes] |
rs11054131 | 1.00[ASN][1000 genomes] |
rs11054134 | 0.82[ASN][1000 genomes] |
rs11054135 | 0.82[ASN][1000 genomes] |
rs11054136 | 0.82[ASN][1000 genomes] |
rs11054137 | 0.82[ASN][1000 genomes] |
rs11054138 | 0.82[ASN][1000 genomes] |
rs11054148 | 0.94[ASN][1000 genomes] |
rs11054155 | 0.92[ASN][1000 genomes] |
rs11054166 | 0.85[ASN][1000 genomes] |
rs11054172 | 0.85[AFR][1000 genomes] |
rs11054173 | 0.92[AFR][1000 genomes] |
rs11531979 | 0.80[AFR][1000 genomes] |
rs11610105 | 0.84[ASN][1000 genomes] |
rs12305080 | 0.82[ASN][1000 genomes] |
rs12306939 | 0.82[ASN][1000 genomes] |
rs12311627 | 0.82[ASN][1000 genomes] |
rs12311635 | 0.82[ASN][1000 genomes] |
rs12313469 | 0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes] |
rs12367487 | 0.96[ASN][1000 genomes] |
rs12581501 | 0.94[ASN][1000 genomes] |
rs1376250 | 0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs1376251 | 0.82[ASN][1000 genomes] |
rs17743605 | 0.96[ASN][1000 genomes] |
rs17810798 | 0.96[ASN][1000 genomes] |
rs2010481 | 0.92[AFR][1000 genomes] |
rs2060705 | 0.84[AFR][1000 genomes] |
rs2218820 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2246971 | 0.83[AFR][1000 genomes] |
rs2256845 | 0.83[AFR][1000 genomes] |
rs2418224 | 0.92[ASN][1000 genomes] |
rs2418302 | 0.82[ASN][1000 genomes] |
rs2597981 | 0.86[AFR][1000 genomes] |
rs2597983 | 0.81[AFR][1000 genomes] |
rs2597985 | 0.83[AFR][1000 genomes] |
rs2597989 | 0.81[AFR][1000 genomes] |
rs2597992 | 0.84[AFR][1000 genomes] |
rs2597994 | 0.86[AFR][1000 genomes] |
rs2597996 | 0.82[AFR][1000 genomes] |
rs2597997 | 0.80[AFR][1000 genomes] |
rs2597998 | 0.84[AFR][1000 genomes] |
rs2598000 | 0.85[AFR][1000 genomes] |
rs2598001 | 0.82[AFR][1000 genomes] |
rs2599394 | 0.83[AFR][1000 genomes] |
rs2599409 | 0.82[AFR][1000 genomes] |
rs2599419 | 0.83[AFR][1000 genomes] |
rs2599420 | 0.83[AFR][1000 genomes] |
rs2708319 | 0.83[AFR][1000 genomes] |
rs2708322 | 0.86[AFR][1000 genomes] |
rs2708324 | 0.83[AFR][1000 genomes] |
rs2708326 | 0.83[AFR][1000 genomes] |
rs2708327 | 0.83[AFR][1000 genomes] |
rs2708375 | 0.80[AFR][1000 genomes] |
rs2708383 | 0.85[AFR][1000 genomes] |
rs2708384 | 0.82[AFR][1000 genomes] |
rs2708385 | 0.82[AFR][1000 genomes] |
rs2708386 | 0.84[AFR][1000 genomes] |
rs2708389 | 0.83[AFR][1000 genomes] |
rs2900553 | 0.82[ASN][1000 genomes] |
rs2900554 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2900578 | 0.92[AFR][1000 genomes] |
rs34763234 | 0.87[AFR][1000 genomes] |
rs35692971 | 0.87[AFR][1000 genomes] |
rs3851583 | 0.84[ASN][1000 genomes] |
rs3851586 | 0.84[ASN][1000 genomes] |
rs3851589 | 0.90[ASN][1000 genomes] |
rs3889444 | 0.92[AFR][1000 genomes] |
rs3889445 | 0.92[AFR][1000 genomes] |
rs3983335 | 0.82[AFR][1000 genomes] |
rs4073964 | 0.88[AFR][1000 genomes] |
rs4132154 | 1.00[ASN][1000 genomes] |
rs4270005 | 0.82[ASN][1000 genomes] |
rs4604977 | 0.82[ASN][1000 genomes] |
rs4763231 | 0.96[ASN][1000 genomes] |
rs4763232 | 0.96[ASN][1000 genomes] |
rs4763599 | 0.96[ASN][1000 genomes] |
rs4763602 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4763603 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4763611 | 0.88[ASN][1000 genomes] |
rs4763616 | 0.82[AFR][1000 genomes] |
rs61912291 | 0.94[ASN][1000 genomes] |
rs61912292 | 0.88[ASN][1000 genomes] |
rs61912293 | 0.88[ASN][1000 genomes] |
rs6488332 | 0.96[ASN][1000 genomes] |
rs6488333 | 0.80[AFR][1000 genomes] |
rs6488334 | 0.83[ASN][1000 genomes] |
rs6488335 | 0.89[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs7134036 | 0.83[AFR][1000 genomes] |
rs7134148 | 0.80[AFR][1000 genomes] |
rs7134390 | 0.96[ASN][1000 genomes] |
rs7134527 | 0.96[ASN][1000 genomes] |
rs7135018 | 0.94[ASN][1000 genomes] |
rs7136588 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7136962 | 1.00[ASN][1000 genomes] |
rs7137212 | 0.96[ASN][1000 genomes] |
rs7137343 | 0.82[ASN][1000 genomes] |
rs7137492 | 0.81[ASN][1000 genomes] |
rs7138108 | 0.88[ASN][1000 genomes] |
rs7138360 | 0.96[ASN][1000 genomes] |
rs7138535 | 0.84[ASN][1000 genomes] |
rs7138953 | 0.82[ASN][1000 genomes] |
rs7294858 | 0.96[ASN][1000 genomes] |
rs7295278 | 0.95[ASN][1000 genomes] |
rs7297949 | 0.82[AFR][1000 genomes] |
rs7298262 | 0.86[ASN][1000 genomes] |
rs7302227 | 0.96[ASN][1000 genomes] |
rs7303183 | 0.96[ASN][1000 genomes] |
rs7305429 | 0.82[ASN][1000 genomes] |
rs7305587 | 0.82[ASN][1000 genomes] |
rs7305588 | 0.82[ASN][1000 genomes] |
rs7305795 | 0.96[ASN][1000 genomes] |
rs7307031 | 0.82[ASN][1000 genomes] |
rs7308469 | 0.96[ASN][1000 genomes] |
rs7308576 | 0.94[ASN][1000 genomes] |
rs7308933 | 0.96[ASN][1000 genomes] |
rs7310233 | 0.82[ASN][1000 genomes] |
rs7312169 | 0.96[ASN][1000 genomes] |
rs7312202 | 0.82[ASN][1000 genomes] |
rs7314608 | 0.96[ASN][1000 genomes] |
rs7398041 | 0.90[ASN][1000 genomes] |
rs7489266 | 0.82[ASN][1000 genomes] |
rs7952952 | 0.80[AFR][1000 genomes] |
rs7953674 | 0.82[AFR][1000 genomes] |
rs7957791 | 0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs7971282 | 0.81[AFR][1000 genomes] |
rs7974464 | 0.88[ASN][1000 genomes] |
rs7979199 | 0.85[ASN][1000 genomes] |
rs9651851 | 0.88[AFR][1000 genomes] |
rs9651854 | 0.87[AFR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2758294 | chr12:10969620-11714921 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 52 gene(s) | inside rSNPs | diseases |
2 | esv2759879 | chr12:10969620-11714921 | Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 52 gene(s) | inside rSNPs | diseases |
3 | nsv1038277 | chr12:11060978-11504091 | Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
4 | nsv428272 | chr12:11069845-11714921 | Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 47 gene(s) | inside rSNPs | diseases |
5 | nsv832330 | chr12:11077678-11206957 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
6 | esv1804419 | chr12:11103505-11149830 | Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
7 | nsv898778 | chr12:11108281-11165394 | Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
8 | esv3527635 | chr12:11118027-11138625 | Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandlncRNA | 2 gene(s) | inside rSNPs | diseases |
9 | esv3527636 | chr12:11118027-11138625 | Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandlncRNA | 2 gene(s) | inside rSNPs | diseases |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs2084650 | TAS2R43 | cis | Thyroid | GTEx |
rs2084650 | TAS2R64P | cis | lung | GTEx |
rs2084650 | TAS2R48 | Cis_1M | lymphoblastoid | RTeQTL |
rs2084650 | TAS2R64P | cis | Nerve Tibial | GTEx |
rs2084650 | TAS2R43 | cis | Nerve Tibial | GTEx |
rs2084650 | TAS2R43 | cis | Artery Tibial | GTEx |
rs2084650 | TAS2R64P | cis | Thyroid | GTEx |
rs2084650 | TAS2R43 | cis | lung | GTEx |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:11095200-11148800 | Weak transcription | HepG2 | liver |
2 | chr12:11100800-11134200 | Weak transcription | Primary T regulatory cells fromperipheralblood | blood |
3 | chr12:11102000-11135600 | Weak transcription | Aorta | Aorta |
4 | chr12:11111800-11142800 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
5 | chr12:11114000-11134000 | Weak transcription | Primary T cells fromperipheralblood | blood |
6 | chr12:11114000-11149200 | Weak transcription | GM12878-XiMat | blood |
7 | chr12:11114200-11131600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
8 | chr12:11114200-11134200 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
9 | chr12:11114400-11180200 | Weak transcription | Primary B cells from peripheral blood | blood |
10 | chr12:11114600-11135400 | Weak transcription | Dnd41 | blood |
11 | chr12:11114600-11142800 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
12 | chr12:11114600-11146400 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
13 | chr12:11114600-11146800 | Weak transcription | Ovary | ovary |
14 | chr12:11121800-11142800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
15 | chr12:11122000-11132000 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
16 | chr12:11122000-11136800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
17 | chr12:11122000-11142600 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
18 | chr12:11122000-11146200 | Weak transcription | Left Ventricle | heart |
19 | chr12:11122000-11170200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
20 | chr12:11122200-11168000 | Weak transcription | HUVEC | blood vessel |
21 | chr12:11126400-11142800 | Weak transcription | Primary B cells from cord blood | blood |
22 | chr12:11126400-11143000 | Weak transcription | HSMM | muscle |
23 | chr12:11128200-11131600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
24 | chr12:11128200-11142800 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
25 | chr12:11128600-11131600 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
26 | chr12:11128800-11131000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
27 | chr12:11128800-11131400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
28 | chr12:11129200-11167600 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
29 | chr12:11129400-11136000 | Weak transcription | Lung | lung |
30 | chr12:11129600-11131600 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |