Variant report
Variant | rs6954901 |
---|---|
Chromosome Location | chr7:16306703-16306704 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:10)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:10 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | IRF1 | chr7:16306643-16306882 | K562 | blood: | n/a | chr7:16306724-16306738 |
2 | JUN | chr7:16303638-16310076 | K562 | blood: | n/a | chr7:16307130-16307142 chr7:16304208-16304216 chr7:16304204-16304215 chr7:16305975-16305987 chr7:16304206-16304218 |
3 | EP300 | chr7:16306320-16306721 | SK-N-SH_RA | brain: | n/a | n/a |
4 | POLR2A | chr7:16303891-16306881 | K562 | blood: | n/a | n/a |
5 | TBL1XR1 | chr7:16306590-16307356 | K562 | blood: | n/a | n/a |
6 | POLR2A | chr7:16303647-16309801 | K562 | blood: | n/a | n/a |
7 | GATA3 | chr7:16306378-16306841 | SK-N-SH | brain: | n/a | n/a |
8 | PBX3 | chr7:16306366-16306825 | SK-N-SH | brain: | n/a | n/a |
9 | EP300 | chr7:16306367-16307036 | SK-N-SH_RA | brain: | n/a | n/a |
10 | GATA3 | chr7:16306326-16306942 | SK-N-SH | brain: | n/a | n/a |
No data |
(count:7 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:16302978..16309646-chr7:16456908..16462647,13 | K562 | blood: | |
2 | chr7:16304631..16307990-chr7:16437547..16440554,3 | K562 | blood: | |
3 | chr7:16272248..16275452-chr7:16305157..16308165,4 | K562 | blood: | |
4 | chr7:16221967..16224628-chr7:16306153..16308389,2 | K562 | blood: | |
5 | chr7:16303209..16307181-chr7:16682528..16687363,4 | K562 | blood: | |
6 | chr7:16304973..16307091-chr7:16435445..16437043,2 | K562 | blood: | |
7 | chr7:16272248..16274869-chr7:16305157..16307096,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ISPD-AS1 | TF binding region |
ENSG00000214960 | Chromatin interaction |
ENSG00000106524 | Chromatin interaction |
ENSG00000136261 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs11982879 | 0.94[ASN][1000 genomes] |
rs1527210 | 0.86[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs17361790 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.98[ASN][1000 genomes] |
rs17459166 | 0.81[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.89[YRI][hapmap];0.99[ASN][1000 genomes] |
rs2058269 | 0.80[EUR][1000 genomes] |
rs2214626 | 0.81[EUR][1000 genomes] |
rs4721484 | 0.85[EUR][1000 genomes] |
rs56279207 | 0.81[EUR][1000 genomes] |
rs56295311 | 0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs62440449 | 0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7782485 | 0.81[EUR][1000 genomes] |
rs7799150 | 0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1016642 | chr7:15884061-16799788 | Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
2 | nsv948950 | chr7:16168925-16395434 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
3 | esv2757214 | chr7:16236162-16334228 | Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
4 | esv2759514 | chr7:16236162-16527390 | Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
5 | esv34298 | chr7:16251754-16324185 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
6 | nsv1022388 | chr7:16251992-16431864 | Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
7 | nsv1017498 | chr7:16262300-16313476 | Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
8 | nsv1022814 | chr7:16262300-16339988 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
9 | nsv470133 | chr7:16269632-16312056 | Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
10 | esv2758105 | chr7:16272822-16527390 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
11 | nsv869966 | chr7:16279782-16307959 | Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:16300200-16308400 | Weak transcription | Fetal Heart | heart |
2 | chr7:16304200-16307200 | Transcr. at gene 5' and 3' | K562 | blood |
3 | chr7:16305200-16313200 | Weak transcription | Fetal Lung | lung |
4 | chr7:16305600-16312800 | Weak transcription | Gastric | stomach |