Variant report
Variant | rs8085523 |
---|---|
Chromosome Location | chr18:29027757-29027758 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:18)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:18 , 50 per page) page:
1
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr18:29027745-29027795 | LNCaP | prostate: | n/a |
2 | chr18:29027745-29027795 | T-47D | breast: | n/a |
3 | chr18:29027745-29027795 | HPAEpiC | pulmonary alveolar: | n/a |
4 | chr18:29027745-29027795 | SK-N-SH_RA | brain: | n/a |
5 | chr18:29027745-29027795 | ProgFib | skin: | n/a |
6 | chr18:29027745-29027795 | AG04450 | lung: | fetal |
7 | chr18:29027745-29027795 | SAEC | small airway: | n/a |
8 | chr18:29027745-29027795 | Hela-S3 | cervix: | n/a |
9 | chr18:29027745-29027795 | AG09319 | gingival: | n/a |
10 | chr18:29027745-29027795 | GM06990 | blood: | n/a |
11 | chr18:29027745-29027795 | HEK293 | kidney: | embryo |
12 | chr18:29027745-29027795 | GM12892 | blood: | n/a |
13 | chr18:29027745-29027795 | HRCEpiC | kidney: | n/a |
14 | chr18:29027745-29027795 | SK-N-SH | brain: | n/a |
15 | chr18:29027745-29027795 | ECC-1 | luminal epithelium: | n/a |
16 | chr18:29027745-29027795 | IMR90 | lung: | fetal |
17 | chr18:29027745-29027795 | RPTEC | kidney: | n/a |
18 | chr18:29027745-29027795 | NB4 | blood: | n/a |
19 | chr18:29027745-29027795 | GM19239 | blood: | n/a |
20 | chr18:29027745-29027795 | CMK | blood: | n/a |
21 | chr18:29027745-29027795 | GM12878 | blood: | n/a |
22 | chr18:29027745-29027795 | HCPEpiC | choroid plexus: | n/a |
23 | chr18:29027745-29027795 | HEEpiC | esophagus: | n/a |
24 | chr18:29027745-29027795 | BE2_C | brain: | n/a |
25 | chr18:29027745-29027795 | SKMC | muscle: | n/a |
26 | chr18:29027745-29027795 | AG10803 | skin: | n/a |
27 | chr18:29027745-29027795 | H1-hESC | embryonic stem cell: | embryo |
28 | chr18:29027745-29027795 | HUVEC | blood vessel: | n/a |
29 | chr18:29027745-29027795 | HMEC | breast: | n/a |
30 | chr18:29027745-29027795 | NH-A | brain: | n/a |
31 | chr18:29027745-29027795 | NHBE | bronchial: | n/a |
32 | chr18:29027745-29027795 | HNPCEpiC | eye: | n/a |
33 | chr18:29027745-29027795 | K562 | blood: | n/a |
34 | chr18:29027745-29027795 | HL-60 | blood: | n/a |
35 | chr18:29027745-29027795 | HIPEpiC | eye: | n/a |
36 | chr18:29027745-29027795 | U87 | brain: | n/a |
37 | chr18:29027745-29027795 | HRPEpiC | eye: | n/a |
38 | chr18:29027745-29027795 | HCF | heart: | n/a |
39 | chr18:29027745-29027795 | AG04449 | skin: | fetal |
40 | chr18:29027745-29027795 | GM12891 | blood: | n/a |
41 | chr18:29027745-29027795 | Jurkat | blood: | n/a |
42 | chr18:29027745-29027795 | NT2-D1 | testis: | n/a |
43 | chr18:29027745-29027795 | AG09309 | skin: | n/a |
44 | chr18:29027745-29027795 | ovcar-3 | ovarian: | n/a |
45 | chr18:29027745-29027795 | PrEC | prostate: | n/a |
46 | chr18:29027745-29027795 | NHDF-neo | bronchial: | n/a |
47 | chr18:29027745-29027795 | Hepatocyte | liver: | n/a |
48 | chr18:29027745-29027795 | HCM | heart: | n/a |
49 | chr18:29027745-29027795 | HCT-116 | colon: | n/a |
50 | chr18:29027745-29027795 | HRE | kidney: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
DSG3 | TF binding region |
DSG3 | CpG island |
rs_ID | r2[population] |
---|---|
rs10084010 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11081697 | 0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11081698 | 0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11081699 | 0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12606813 | 0.92[EUR][1000 genomes] |
rs1460598 | 1.00[ASN][1000 genomes] |
rs1460601 | 0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs16961871 | 0.92[EUR][1000 genomes] |
rs16961938 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs16961940 | 0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs16961954 | 0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs1893390 | 0.84[ASN][1000 genomes] |
rs2022525 | 0.93[EUR][1000 genomes] |
rs2704047 | 0.89[EUR][1000 genomes] |
rs28849443 | 0.92[EUR][1000 genomes] |
rs28876680 | 0.92[EUR][1000 genomes] |
rs3848485 | 0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs3911655 | 0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs3911656 | 0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs4513174 | 0.84[EUR][1000 genomes] |
rs56069436 | 0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs61344982 | 0.82[ASN][1000 genomes] |
rs61567349 | 0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6506922 | 0.92[EUR][1000 genomes] |
rs6506923 | 0.92[EUR][1000 genomes] |
rs6506924 | 0.92[EUR][1000 genomes] |
rs6506925 | 0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs67611221 | 0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7234091 | 0.84[ASN][1000 genomes] |
rs7240484 | 0.94[CEU][hapmap];0.88[CHB][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.92[MKK][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7351033 | 0.92[EUR][1000 genomes] |
rs8085532 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs8085909 | 0.94[CEU][hapmap];0.86[EUR][1000 genomes] |
rs8088606 | 0.82[EUR][1000 genomes] |
rs8089502 | 0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs8092559 | 0.90[ASN][1000 genomes] |
rs8092800 | 0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs8093149 | 0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.81[TSI][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs8093256 | 0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs8093901 | 0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs8094212 | 1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes] |
rs8099530 | 0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs9953370 | 0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9956575 | 0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs9956859 | 0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs9964450 | 0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1066692 | chr18:28856066-29190505 | Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
2 | nsv543674 | chr18:28856066-29190505 | Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
3 | nsv916545 | chr18:28898800-29166364 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
4 | nsv1060592 | chr18:28965770-29042332 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
5 | nsv1059676 | chr18:28965770-29049614 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
6 | nsv869902 | chr18:28967184-29053244 | Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
7 | nsv524890 | chr18:28967410-29056465 | Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
8 | nsv576630 | chr18:28969044-29049018 | Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
9 | nsv576631 | chr18:28969044-29051677 | Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
10 | nsv458045 | chr18:28969044-29056465 | Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
11 | nsv576632 | chr18:28969044-29056465 | Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
12 | esv2751776 | chr18:28970147-29057719 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
13 | nsv576633 | chr18:28972363-29038123 | Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
14 | nsv576634 | chr18:28972363-29049018 | Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
15 | nsv1065809 | chr18:28974612-29035411 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
16 | nsv1065570 | chr18:28974612-29049614 | Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
17 | nsv1058214 | chr18:28974612-29053891 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
18 | nsv1062970 | chr18:28976790-29049614 | Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
19 | nsv1056726 | chr18:28978180-29049614 | Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
20 | nsv1061071 | chr18:28979237-29048429 | Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
21 | nsv833615 | chr18:29008396-29192976 | Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
22 | nsv909518 | chr18:29009409-29049018 | Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr18:29027200-29030400 | Active TSS | Duodenum Mucosa | Duodenum |
2 | chr18:29027400-29027800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
3 | chr18:29027400-29029200 | Active TSS | NHEK | skin |
4 | chr18:29027400-29030200 | Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
5 | chr18:29027400-29030800 | Active TSS | Breast Myoepithelial Primary Cells | Breast |
6 | chr18:29027600-29028000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
7 | chr18:29027600-29028000 | Active TSS | Esophagus | oesophagus |
8 | chr18:29027600-29029400 | Active TSS | Thymus | Thymus |
9 | chr18:29027600-29029600 | Active TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
10 | chr18:29027600-29029800 | Active TSS | Fetal Thymus | thymus |
11 | chr18:29027600-29029800 | Active TSS | HMEC | breast |
12 | chr18:29027600-29031800 | Active TSS | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |