Variant report
| Variant | rs2411061 |
|---|---|
| Chromosome Location | chr7:102613490-102613491 |
| allele | A/T |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:50)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:50 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | EP300 | chr7:102613356-102614092 | K562 | blood: | n/a | n/a |
| 2 | PML | chr7:102613327-102614248 | K562 | blood: | n/a | n/a |
| 3 | IRF1 | chr7:102613315-102614134 | K562 | blood: | n/a | chr7:102613343-102613357 |
| 4 | POLR2A | chr7:102613447-102614687 | K562 | blood: | n/a | n/a |
| 5 | STAT5A | chr7:102613449-102614216 | K562 | blood: | n/a | n/a |
| 6 | GATA2 | chr7:102613323-102614105 | HUVEC | blood vessel: | n/a | n/a |
| 7 | PML | chr7:102613395-102614428 | K562 | blood: | n/a | n/a |
| 8 | POLR2A | chr7:102613362-102614673 | K562 | blood: | n/a | n/a |
| 9 | POLR2A | chr7:102613412-102614067 | HUVEC | blood vessel: | n/a | n/a |
| 10 | CEBPB | chr7:102613340-102614174 | K562 | blood: | n/a | n/a |
| 11 | POLR2A | chr7:102613188-102614671 | K562 | blood: | n/a | n/a |
| 12 | EP300 | chr7:102613478-102614058 | GM12878 | blood: | n/a | n/a |
| 13 | HEY1 | chr7:102613421-102614695 | K562 | blood: | n/a | n/a |
| 14 | POLR2A | chr7:102613349-102614031 | U87 | brain: | n/a | n/a |
| 15 | IRF1 | chr7:102613325-102614493 | K562 | blood: | n/a | chr7:102613343-102613357 |
| 16 | NR2F2 | chr7:102613345-102616007 | K562 | blood: | n/a | n/a |
| 17 | TBL1XR1 | chr7:102613467-102614152 | K562 | blood: | n/a | n/a |
| 18 | CCNT2 | chr7:102613489-102613769 | K562 | blood: | n/a | n/a |
| 19 | CUX1 | chr7:102613462-102614241 | K562 | blood: | n/a | n/a |
| 20 | TBP | chr7:102613469-102614434 | K562 | blood: | n/a | n/a |
| 21 | BCLAF1 | chr7:102613400-102614259 | K562 | blood: | n/a | n/a |
| 22 | CBX3 | chr7:102613423-102614555 | K562 | blood: | n/a | n/a |
| 23 | JUND | chr7:102613465-102614184 | K562 | blood: | n/a | n/a |
| 24 | TEAD4 | chr7:102613337-102614630 | K562 | blood: | n/a | n/a |
| 25 | POLR2A | chr7:102613470-102614420 | K562 | blood: | n/a | n/a |
| 26 | NR2F2 | chr7:102613475-102614365 | K562 | blood: | n/a | n/a |
| 27 | TRIM28 | chr7:102613403-102614585 | K562 | blood: | n/a | n/a |
| 28 | TEAD4 | chr7:102613326-102614390 | K562 | blood: | n/a | n/a |
| 29 | CEBPB | chr7:102613488-102614107 | K562 | blood: | n/a | n/a |
| 30 | POLR2A | chr7:102613452-102614495 | K562 | blood: | n/a | n/a |
| 31 | ELF1 | chr7:102613482-102614116 | K562 | blood: | n/a | chr7:102613772-102613785 |
| 32 | MYC | chr7:102613411-102614476 | K562 | blood: | n/a | n/a |
| 33 | ATF3 | chr7:102613482-102614149 | K562 | blood: | n/a | n/a |
| 34 | JUN | chr7:102612903-102615140 | K562 | blood: | n/a | n/a |
| 35 | POLR2A | chr7:102613490-102614314 | K562 | blood: | n/a | n/a |
| 36 | POLR2A | chr7:102613095-102614654 | K562 | blood: | n/a | n/a |
| 37 | POLR2A | chr7:102613384-102614230 | U87 | brain: | n/a | n/a |
| 38 | POLR2A | chr7:102613480-102614475 | K562 | blood: | n/a | n/a |
| 39 | ARID3A | chr7:102613385-102614106 | K562 | blood: | n/a | n/a |
| 40 | GATA2 | chr7:102613431-102614080 | K562 | blood: | n/a | n/a |
| 41 | POLR2A | chr7:102613390-102614230 | U87 | brain: | n/a | n/a |
| 42 | MAFF | chr7:102613417-102614021 | K562 | blood: | n/a | n/a |
| 43 | POLR2A | chr7:102613424-102614578 | K562 | blood: | n/a | n/a |
| 44 | HEY1 | chr7:102613450-102614578 | K562 | blood: | n/a | n/a |
| 45 | RCOR1 | chr7:102613465-102614354 | K562 | blood: | n/a | n/a |
| 46 | RFX5 | chr7:102613460-102614079 | K562 | blood: | n/a | n/a |
| 47 | CEBPD | chr7:102613402-102614386 | K562 | blood: | n/a | n/a |
| 48 | POLR2A | chr7:102613487-102614160 | HUVEC | blood vessel: | n/a | n/a |
| 49 | CBX3 | chr7:102613428-102614115 | K562 | blood: | n/a | n/a |
| 50 | POLR2A | chr7:102613447-102614263 | HL-60 | blood: | n/a | n/a |
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| NFE4 | TF binding region |
| ENSG00000170632 | Chromatin interaction |
| ENSG00000238324 | Chromatin interaction |
| rs_ID | r2[population] |
|---|---|
| rs10487281 | 1.00[CHB][hapmap] |
| rs10487284 | 1.00[CHB][hapmap] |
| rs11496066 | 1.00[CHB][hapmap] |
| rs12113073 | 1.00[CHB][hapmap] |
| rs12113233 | 1.00[ASN][1000 genomes] |
| rs12113318 | 0.82[YRI][hapmap] |
| rs12113759 | 1.00[CHB][hapmap];0.83[ASN][1000 genomes] |
| rs17135875 | 1.00[CHB][hapmap] |
| rs17135913 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes] |
| rs17135916 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes] |
| rs17474893 | 1.00[CHB][hapmap] |
| rs2041094 | 1.00[CHB][hapmap] |
| rs2228687 | 1.00[CEU][hapmap];0.99[EUR][1000 genomes] |
| rs4377880 | 1.00[CHB][hapmap] |
| rs4398822 | 1.00[CHB][hapmap] |
| rs4610658 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs55681588 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs55781834 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs55825804 | 0.83[ASN][1000 genomes] |
| rs55849741 | 0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs55851590 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56146438 | 1.00[ASN][1000 genomes] |
| rs56186316 | 1.00[ASN][1000 genomes] |
| rs56314487 | 0.88[EUR][1000 genomes] |
| rs56336567 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56692051 | 0.88[EUR][1000 genomes] |
| rs6465886 | 1.00[CEU][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs6465887 | 0.85[CEU][hapmap];0.82[YRI][hapmap] |
| rs6465889 | 0.83[YRI][hapmap] |
| rs66712128 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs6955064 | 0.90[EUR][1000 genomes] |
| rs6964296 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes] |
| rs6965463 | 0.83[CEU][hapmap];0.80[YRI][hapmap] |
| rs6968036 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs727175 | 1.00[CHB][hapmap] |
| rs73192019 | 0.89[EUR][1000 genomes] |
| rs73192025 | 0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73192026 | 0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73714541 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs7777217 | 0.83[CEU][hapmap];0.80[YRI][hapmap] |
| rs7779854 | 0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes] |
| rs7781557 | 1.00[CHB][hapmap] |
| rs7790451 | 1.00[ASN][1000 genomes] |
| rs7797873 | 1.00[ASN][1000 genomes] |
| rs7798582 | 0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs7809047 | 1.00[CHB][hapmap] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1016563 | chr7:101912320-102695860 | Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 76 gene(s) | inside rSNPs | diseases |
| 2 | nsv1028438 | chr7:101912320-102704135 | Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 76 gene(s) | inside rSNPs | diseases |
| 3 | nsv868996 | chr7:102332827-102991361 | ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 46 gene(s) | inside rSNPs | diseases |
| 4 | esv2752138 | chr7:102358320-102787135 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 33 gene(s) | inside rSNPs | diseases |
| 5 | nsv464667 | chr7:102486254-102624192 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
| 6 | nsv608060 | chr7:102486254-102624192 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
| 7 | nsv5881 | chr7:102610488-102655699 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:102591000-102619400 | Weak transcription | HSMM | muscle |
| 2 | chr7:102608800-102618600 | Weak transcription | Osteobl | bone |
| 3 | chr7:102611800-102615000 | Active TSS | K562 | blood |
| 4 | chr7:102612400-102613600 | Active TSS | Primary B cells from cord blood | blood |
| 5 | chr7:102612600-102613800 | Flanking Active TSS | HUVEC | blood vessel |
| 6 | chr7:102613000-102625600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 7 | chr7:102613200-102631200 | Weak transcription | Primary hematopoietic stem cells | blood |
| 8 | chr7:102613400-102613600 | Active TSS | Primary neutrophils fromperipheralblood | blood |
| 9 | chr7:102613400-102613800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |





