Variant report
Variant | rs12499992 |
---|---|
Chromosome Location | chr4:48992761-48992762 |
allele | A/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:48987005..48989182-chr4:48992277..48994580,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000109182 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10024211 | 0.81[CEU][hapmap] |
rs10027569 | 0.92[AMR][1000 genomes] |
rs10222924 | 0.83[CEU][hapmap];0.88[GIH][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap] |
rs1051447 | 0.83[CEU][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap] |
rs11410065 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11730515 | 0.88[GIH][hapmap];0.84[MKK][hapmap] |
rs12502614 | 0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12505576 | 0.88[GIH][hapmap];0.84[MKK][hapmap] |
rs13124375 | 0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13135263 | 0.95[GIH][hapmap];0.88[TSI][hapmap] |
rs13141488 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1350122 | 0.82[CEU][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes] |
rs1350123 | 0.95[GIH][hapmap];0.88[TSI][hapmap] |
rs1455937 | 0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs16861606 | 0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17611143 | 0.83[CEU][hapmap];0.88[GIH][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap] |
rs1840628 | 1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1993383 | 0.92[AMR][1000 genomes] |
rs2572343 | 0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2572344 | 0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2572357 | 0.91[AMR][1000 genomes] |
rs2572358 | 0.91[AMR][1000 genomes] |
rs2572359 | 0.92[AMR][1000 genomes] |
rs2572361 | 0.85[AMR][1000 genomes] |
rs2572362 | 0.92[AMR][1000 genomes] |
rs2572363 | 0.85[AMR][1000 genomes] |
rs2605233 | 0.83[CEU][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap] |
rs2605236 | 0.88[GIH][hapmap];0.83[MKK][hapmap] |
rs2605238 | 0.88[GIH][hapmap];0.84[MKK][hapmap] |
rs2605239 | 0.88[GIH][hapmap];0.84[MKK][hapmap] |
rs2605243 | 0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2605244 | 0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2605273 | 0.85[AMR][1000 genomes] |
rs2605274 | 0.92[AMR][1000 genomes] |
rs2605275 | 0.92[AMR][1000 genomes] |
rs2768957 | 0.83[CEU][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap] |
rs2768958 | 0.88[GIH][hapmap];0.82[MKK][hapmap] |
rs2768965 | 0.83[CEU][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap] |
rs2768966 | 0.82[CEU][hapmap] |
rs2768968 | 0.88[GIH][hapmap];0.84[MKK][hapmap] |
rs2768969 | 0.88[GIH][hapmap];0.84[MKK][hapmap] |
rs2768971 | 0.88[GIH][hapmap];0.84[MKK][hapmap] |
rs2768973 | 0.83[CEU][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap] |
rs28590759 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3761728 | 0.82[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4552435 | 0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4695413 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4695414 | 0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs4695415 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4695416 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes] |
rs4695417 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes] |
rs4695418 | 0.82[CEU][hapmap];0.81[AFR][1000 genomes] |
rs4695419 | 0.91[GIH][hapmap] |
rs6822902 | 0.88[GIH][hapmap];0.84[MKK][hapmap] |
rs6824559 | 0.92[AMR][1000 genomes] |
rs6850199 | 0.85[ASW][hapmap];0.83[CEU][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes] |
rs7655341 | 0.88[GIH][hapmap] |
rs7674928 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs936134 | 0.83[CEU][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes] |
rs936135 | 0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9683541 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9683610 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1002674 | chr4:48507608-49032909 | Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
2 | nsv537087 | chr4:48507608-49032909 | Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
3 | nsv1010923 | chr4:48575156-49083089 | Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
4 | nsv537088 | chr4:48575156-49083089 | Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
5 | nsv1013762 | chr4:48580484-49032909 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
6 | nsv537089 | chr4:48580484-49032909 | Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
7 | nsv1010381 | chr4:48701525-49309842 | Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
8 | nsv1003718 | chr4:48771947-49083089 | Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
9 | nsv916809 | chr4:48784318-49083302 | Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
10 | nsv1011910 | chr4:48784332-49154757 | ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
11 | nsv879010 | chr4:48794403-49061141 | Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
12 | nsv427680 | chr4:48829607-49660117 | ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 41 gene(s) | inside rSNPs | diseases |
13 | nsv1004364 | chr4:48961611-49083089 | Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 6 gene(s) | inside rSNPs | diseases |
14 | esv1798238 | chr4:48979634-48993377 | Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
15 | esv1819278 | chr4:48979634-48993377 | Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
16 | esv1839152 | chr4:48979634-48993377 | Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
17 | nsv441875 | chr4:48979634-48993377 | Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
18 | nsv998769 | chr4:48989185-49083089 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:48988600-49000400 | Weak transcription | Gastric | stomach |
2 | chr4:48989000-48993400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr4:48989000-49000400 | Weak transcription | Esophagus | oesophagus |
4 | chr4:48990000-48993000 | Weak transcription | NHEK | skin |
5 | chr4:48990600-48992800 | Enhancers | Stomach Mucosa | stomach |
6 | chr4:48991200-48994000 | Enhancers | Rectal Mucosa Donor 31 | rectum |
7 | chr4:48991400-48992800 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
8 | chr4:48991400-49018400 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
9 | chr4:48991800-48993000 | Weak transcription | Sigmoid Colon | Sigmoid Colon |