Variant report
Variant | rs72730454 |
---|---|
Chromosome Location | chr14:67495775-67495776 |
allele | A/G |
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] |
---|---|
rs10483790 | 1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10483792 | 1.00[ASN][1000 genomes] |
rs10483794 | 1.00[ASN][1000 genomes] |
rs10483795 | 1.00[ASN][1000 genomes] |
rs17103796 | 1.00[ASN][1000 genomes] |
rs17103807 | 1.00[ASN][1000 genomes] |
rs17103814 | 1.00[ASN][1000 genomes] |
rs17103853 | 1.00[ASN][1000 genomes] |
rs17103856 | 1.00[ASN][1000 genomes] |
rs17103859 | 1.00[ASN][1000 genomes] |
rs17103876 | 1.00[ASN][1000 genomes] |
rs17103879 | 1.00[ASN][1000 genomes] |
rs17103896 | 1.00[ASN][1000 genomes] |
rs17103910 | 1.00[ASN][1000 genomes] |
rs17103924 | 1.00[ASN][1000 genomes] |
rs17103973 | 1.00[ASN][1000 genomes] |
rs17103977 | 1.00[ASN][1000 genomes] |
rs17103990 | 1.00[ASN][1000 genomes] |
rs17103998 | 1.00[ASN][1000 genomes] |
rs17104000 | 1.00[ASN][1000 genomes] |
rs17104010 | 1.00[ASN][1000 genomes] |
rs17104020 | 1.00[ASN][1000 genomes] |
rs17104024 | 1.00[ASN][1000 genomes] |
rs17104041 | 1.00[ASN][1000 genomes] |
rs17104064 | 1.00[ASN][1000 genomes] |
rs17104067 | 1.00[ASN][1000 genomes] |
rs17104095 | 1.00[ASN][1000 genomes] |
rs17104096 | 1.00[ASN][1000 genomes] |
rs17183371 | 1.00[AFR][1000 genomes] |
rs17183406 | 1.00[AFR][1000 genomes] |
rs17780682 | 1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17780694 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17781130 | 1.00[AFR][1000 genomes] |
rs17781220 | 1.00[AFR][1000 genomes];1.00[ASN][1000 genomes] |
rs17781232 | 1.00[AFR][1000 genomes] |
rs1955611 | 1.00[ASN][1000 genomes] |
rs2026653 | 1.00[ASN][1000 genomes] |
rs2236334 | 1.00[ASN][1000 genomes] |
rs2273835 | 1.00[ASN][1000 genomes] |
rs2273836 | 1.00[ASN][1000 genomes] |
rs35680137 | 1.00[AFR][1000 genomes] |
rs3752992 | 1.00[ASN][1000 genomes] |
rs3784076 | 1.00[ASN][1000 genomes] |
rs3784077 | 1.00[ASN][1000 genomes] |
rs3784080 | 1.00[ASN][1000 genomes] |
rs41285470 | 1.00[AFR][1000 genomes] |
rs41285536 | 1.00[ASN][1000 genomes] |
rs41299201 | 1.00[ASN][1000 genomes] |
rs41301469 | 1.00[ASN][1000 genomes] |
rs41477648 | 1.00[ASN][1000 genomes] |
rs41525547 | 1.00[ASN][1000 genomes] |
rs56264248 | 1.00[ASN][1000 genomes] |
rs7147989 | 1.00[AFR][1000 genomes] |
rs72715303 | 1.00[ASN][1000 genomes] |
rs72715304 | 1.00[ASN][1000 genomes] |
rs72715306 | 1.00[ASN][1000 genomes] |
rs72715307 | 1.00[ASN][1000 genomes] |
rs72715308 | 0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs72715310 | 1.00[ASN][1000 genomes] |
rs72715313 | 0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs72715314 | 1.00[ASN][1000 genomes] |
rs72715322 | 1.00[ASN][1000 genomes] |
rs72715323 | 1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs72715327 | 1.00[ASN][1000 genomes] |
rs72715329 | 1.00[ASN][1000 genomes] |
rs72715331 | 1.00[ASN][1000 genomes] |
rs72715332 | 1.00[ASN][1000 genomes] |
rs72715334 | 1.00[ASN][1000 genomes] |
rs72715335 | 1.00[ASN][1000 genomes] |
rs72715336 | 1.00[ASN][1000 genomes] |
rs72715338 | 1.00[ASN][1000 genomes] |
rs72715339 | 1.00[ASN][1000 genomes] |
rs72715340 | 1.00[ASN][1000 genomes] |
rs72715342 | 1.00[ASN][1000 genomes] |
rs72715343 | 1.00[ASN][1000 genomes] |
rs72715344 | 1.00[ASN][1000 genomes] |
rs72715346 | 1.00[ASN][1000 genomes] |
rs72715347 | 1.00[ASN][1000 genomes] |
rs72715348 | 1.00[ASN][1000 genomes] |
rs72715349 | 1.00[ASN][1000 genomes] |
rs72715351 | 1.00[ASN][1000 genomes] |
rs72715353 | 1.00[ASN][1000 genomes] |
rs72715354 | 1.00[ASN][1000 genomes] |
rs72715355 | 1.00[ASN][1000 genomes] |
rs72715356 | 1.00[ASN][1000 genomes] |
rs72715357 | 1.00[ASN][1000 genomes] |
rs72715359 | 1.00[ASN][1000 genomes] |
rs72715361 | 1.00[ASN][1000 genomes] |
rs72715363 | 1.00[ASN][1000 genomes] |
rs72715365 | 1.00[ASN][1000 genomes] |
rs72715367 | 1.00[ASN][1000 genomes] |
rs72715369 | 1.00[ASN][1000 genomes] |
rs72715370 | 1.00[ASN][1000 genomes] |
rs72715371 | 1.00[ASN][1000 genomes] |
rs72715372 | 1.00[ASN][1000 genomes] |
rs72715373 | 1.00[ASN][1000 genomes] |
rs72715374 | 1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs72715376 | 1.00[ASN][1000 genomes] |
rs72715378 | 1.00[ASN][1000 genomes] |
rs72715381 | 1.00[ASN][1000 genomes] |
rs72715383 | 1.00[ASN][1000 genomes] |
rs72715385 | 1.00[ASN][1000 genomes] |
rs72715386 | 1.00[ASN][1000 genomes] |
rs72715387 | 1.00[ASN][1000 genomes] |
rs72715388 | 1.00[ASN][1000 genomes] |
rs72715389 | 1.00[ASN][1000 genomes] |
rs72715390 | 1.00[AFR][1000 genomes];1.00[ASN][1000 genomes] |
rs72715391 | 1.00[ASN][1000 genomes] |
rs72715393 | 1.00[ASN][1000 genomes] |
rs72715395 | 1.00[ASN][1000 genomes] |
rs72715396 | 1.00[ASN][1000 genomes] |
rs72715398 | 1.00[ASN][1000 genomes] |
rs72715399 | 1.00[ASN][1000 genomes] |
rs72715400 | 1.00[ASN][1000 genomes] |
rs72715401 | 1.00[ASN][1000 genomes] |
rs72715402 | 1.00[ASN][1000 genomes] |
rs72717303 | 1.00[AFR][1000 genomes];1.00[ASN][1000 genomes] |
rs72717304 | 1.00[ASN][1000 genomes] |
rs72717305 | 1.00[ASN][1000 genomes] |
rs72717306 | 1.00[AFR][1000 genomes];1.00[ASN][1000 genomes] |
rs72717309 | 1.00[ASN][1000 genomes] |
rs72717310 | 1.00[ASN][1000 genomes] |
rs72717311 | 1.00[ASN][1000 genomes] |
rs72717313 | 1.00[ASN][1000 genomes] |
rs72717315 | 1.00[ASN][1000 genomes] |
rs72717316 | 1.00[ASN][1000 genomes] |
rs72717317 | 1.00[ASN][1000 genomes] |
rs72717319 | 1.00[ASN][1000 genomes] |
rs72717320 | 1.00[ASN][1000 genomes] |
rs72717321 | 1.00[ASN][1000 genomes] |
rs72717322 | 1.00[ASN][1000 genomes] |
rs72717323 | 1.00[ASN][1000 genomes] |
rs72717324 | 1.00[ASN][1000 genomes] |
rs72717325 | 1.00[ASN][1000 genomes] |
rs72717326 | 1.00[ASN][1000 genomes] |
rs72717327 | 1.00[ASN][1000 genomes] |
rs72717328 | 1.00[ASN][1000 genomes] |
rs72717330 | 1.00[ASN][1000 genomes] |
rs72717332 | 1.00[ASN][1000 genomes] |
rs72717333 | 1.00[ASN][1000 genomes] |
rs72717335 | 1.00[ASN][1000 genomes] |
rs72717336 | 1.00[ASN][1000 genomes] |
rs72717338 | 1.00[ASN][1000 genomes] |
rs72717340 | 1.00[ASN][1000 genomes] |
rs72728660 | 1.00[ASN][1000 genomes] |
rs72728662 | 1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72728665 | 1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72728670 | 1.00[ASN][1000 genomes] |
rs72728673 | 1.00[ASN][1000 genomes] |
rs72728675 | 1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72728678 | 1.00[ASN][1000 genomes] |
rs72728679 | 1.00[ASN][1000 genomes] |
rs72728680 | 1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72728682 | 1.00[ASN][1000 genomes] |
rs72728688 | 1.00[ASN][1000 genomes] |
rs72728689 | 0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72728690 | 1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72728692 | 1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72728693 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72728696 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72728699 | 0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72728702 | 0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730403 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730404 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730406 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730407 | 1.00[ASN][1000 genomes] |
rs72730410 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730411 | 1.00[ASN][1000 genomes] |
rs72730413 | 1.00[ASN][1000 genomes] |
rs72730416 | 1.00[ASN][1000 genomes] |
rs72730418 | 0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730423 | 1.00[ASN][1000 genomes] |
rs72730425 | 1.00[ASN][1000 genomes] |
rs72730426 | 1.00[ASN][1000 genomes] |
rs72730427 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730429 | 1.00[ASN][1000 genomes] |
rs72730432 | 1.00[AFR][1000 genomes] |
rs72730433 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730435 | 1.00[ASN][1000 genomes] |
rs72730436 | 1.00[ASN][1000 genomes] |
rs72730437 | 0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730439 | 1.00[ASN][1000 genomes] |
rs72730440 | 1.00[ASN][1000 genomes] |
rs72730441 | 1.00[ASN][1000 genomes] |
rs72730442 | 1.00[ASN][1000 genomes] |
rs72730443 | 1.00[ASN][1000 genomes] |
rs72730444 | 0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730445 | 0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730447 | 0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730449 | 0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730450 | 0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730453 | 0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730456 | 1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72730457 | 1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs8017612 | 1.00[AFR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3385263 | chr14:66514718-67511481 | ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 33 gene(s) | inside rSNPs | diseases |
2 | nsv525460 | chr14:66851185-67626594 | Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
3 | esv1834170 | chr14:67103140-67527235 | Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
4 | esv2829998 | chr14:67103579-67626594 | Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
5 | esv1838724 | chr14:67232573-67527235 | Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
6 | esv2763071 | chr14:67284476-67597237 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
7 | nsv902058 | chr14:67310195-67760538 | Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
8 | nsv902059 | chr14:67352226-67760538 | ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
9 | esv2751285 | chr14:67364747-67886781 | Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
10 | nsv902060 | chr14:67417083-67760538 | Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
11 | esv1841498 | chr14:67434470-67634318 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
12 | nsv564960 | chr14:67449344-67549803 | Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
13 | nsv1038122 | chr14:67487040-67528205 | ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:67424800-67499000 | Weak transcription | Aorta | Aorta |
2 | chr14:67427600-67498800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr14:67485200-67511200 | Weak transcription | Brain Inferior Temporal Lobe | brain |
4 | chr14:67485400-67498800 | Weak transcription | Fetal Intestine Large | intestine |
5 | chr14:67486800-67498800 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
6 | chr14:67486800-67499000 | Weak transcription | Pancreas | Pancrea |
7 | chr14:67488400-67511200 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
8 | chr14:67488800-67511200 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
9 | chr14:67489600-67498800 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
10 | chr14:67489800-67498800 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
11 | chr14:67491000-67501200 | Weak transcription | Stomach Smooth Muscle | stomach |
12 | chr14:67491600-67497000 | Weak transcription | Dnd41 | blood |
13 | chr14:67491600-67498800 | Weak transcription | Duodenum Mucosa | Duodenum |
14 | chr14:67491600-67499000 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
15 | chr14:67491600-67499000 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
16 | chr14:67491600-67509000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
17 | chr14:67491600-67511200 | Weak transcription | Ovary | ovary |
18 | chr14:67491800-67498800 | Weak transcription | Left Ventricle | heart |
19 | chr14:67491800-67499000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
20 | chr14:67491800-67500000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
21 | chr14:67494200-67499000 | Weak transcription | Fetal Intestine Small | intestine |
22 | chr14:67494600-67498800 | Weak transcription | Liver | Liver |
23 | chr14:67494600-67511200 | Weak transcription | Psoas Muscle | Psoas |
24 | chr14:67495200-67499000 | Weak transcription | Brain Germinal Matrix | brain |