Variant report
Variant | rs62394669 |
---|---|
Chromosome Location | chr6:29744135-29744136 |
allele | A/C |
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 | chr6:29740458..29744376-chr6:29780204..29783385,3 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000237042 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs16895757 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs17179010 | 0.88[ASN][1000 genomes] |
rs17179017 | 0.87[ASN][1000 genomes] |
rs17179038 | 0.87[ASN][1000 genomes] |
rs17179066 | 0.87[ASN][1000 genomes] |
rs17179101 | 0.84[ASN][1000 genomes] |
rs17184661 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs17185419 | 0.80[ASN][1000 genomes] |
rs17185426 | 0.80[ASN][1000 genomes] |
rs17185440 | 0.87[ASN][1000 genomes] |
rs17185447 | 0.87[ASN][1000 genomes] |
rs2394172 | 0.85[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs29233 | 1.00[AFR][1000 genomes] |
rs29254 | 1.00[AFR][1000 genomes] |
rs3888722 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3906306 | 1.00[AFR][1000 genomes] |
rs4085262 | 1.00[AFR][1000 genomes] |
rs4085264 | 1.00[AFR][1000 genomes] |
rs4143366 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs55661776 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs55672647 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs55693745 | 1.00[AFR][1000 genomes] |
rs55729140 | 0.87[ASN][1000 genomes] |
rs55791644 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs55792521 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs55884048 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs55933609 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs55970611 | 0.87[ASN][1000 genomes] |
rs56044823 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs56101454 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs56104249 | 0.83[AMR][1000 genomes];0.87[ASN][1000 genomes] |
rs56128518 | 0.88[ASN][1000 genomes] |
rs56155978 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs56172386 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs56236016 | 0.88[ASN][1000 genomes] |
rs56269224 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs56287651 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs56290866 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56324548 | 0.87[ASN][1000 genomes] |
rs56353080 | 0.83[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs56392172 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs58075773 | 0.87[ASN][1000 genomes] |
rs61609080 | 0.87[ASN][1000 genomes] |
rs62391766 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs62391767 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs62391768 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs62391770 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs62391785 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes] |
rs62391786 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs62391801 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62391819 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62391821 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs62391822 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62391833 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62391835 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs62391842 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs62391843 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs62391844 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs62391850 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62391851 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62391962 | 0.88[ASN][1000 genomes] |
rs62391963 | 0.88[ASN][1000 genomes] |
rs62391965 | 0.87[ASN][1000 genomes] |
rs62392946 | 1.00[AFR][1000 genomes] |
rs62392949 | 1.00[AFR][1000 genomes] |
rs62392950 | 1.00[AFR][1000 genomes] |
rs62392953 | 1.00[AFR][1000 genomes] |
rs62392954 | 1.00[AFR][1000 genomes] |
rs62392955 | 1.00[AFR][1000 genomes] |
rs62392956 | 1.00[AFR][1000 genomes] |
rs62392957 | 1.00[AFR][1000 genomes] |
rs62392958 | 1.00[AFR][1000 genomes] |
rs62394668 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62394670 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62394676 | 0.83[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs62394678 | 0.83[AMR][1000 genomes];0.88[ASN][1000 genomes] |
rs62394681 | 0.88[ASN][1000 genomes] |
rs62394682 | 0.87[ASN][1000 genomes] |
rs67382831 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs71550159 | 1.00[AFR][1000 genomes];0.87[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 | esv20940 | chr6:29653954-29923410 | Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 46 gene(s) | inside rSNPs | diseases |
2 | nsv428475 | chr6:29659525-29763392 | Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
3 | nsv428139 | chr6:29659525-29892317 | Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 41 gene(s) | inside rSNPs | diseases |
4 | nsv427749 | chr6:29659525-29975144 | Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 53 gene(s) | inside rSNPs | diseases |
5 | nsv508397 | chr6:29663132-29761448 | Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
6 | esv1794141 | chr6:29670915-29765814 | Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
7 | nsv10809 | chr6:29692573-29794119 | Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
8 | nsv883532 | chr6:29703262-29814963 | Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
9 | esv3441842 | chr6:29715749-29942950 | Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 47 gene(s) | inside rSNPs | diseases |
10 | esv11180 | chr6:29729381-29800066 | Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
11 | esv3332677 | chr6:29733187-29961463 | Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 43 gene(s) | inside rSNPs | diseases |
12 | esv3423001 | chr6:29733216-29878601 | Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 32 gene(s) | inside rSNPs | diseases |
13 | esv3475027 | chr6:29733297-29922699 | Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
14 | esv3475028 | chr6:29733297-29922699 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
15 | esv3420260 | chr6:29734457-29835593 | Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
16 | esv3330285 | chr6:29736281-29881328 | Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:29733600-29755800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
2 | chr6:29739000-29753600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr6:29742000-29745600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
4 | chr6:29743000-29746000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |