Variant report
Variant | rs34971908 |
---|---|
Chromosome Location | chr2:127066872-127066873 |
allele | G/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:4 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | IRF1 | chr2:127065670-127067487 | K562 | blood: | n/a | n/a |
2 | EP300 | chr2:127066857-127066985 | GM12878 | blood: | n/a | n/a |
3 | IRF1 | chr2:127066870-127067065 | K562 | blood: | n/a | n/a |
4 | RFX5 | chr2:127066535-127067065 | K562 | blood: | n/a | chr2:127066544-127066558 chr2:127066547-127066556 chr2:127066545-127066561 |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000235774 | TF binding region |
rs_ID | r2[population] |
---|---|
rs11674115 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs11674405 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs11675808 | 0.84[AMR][1000 genomes] |
rs11682924 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11684235 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs11687739 | 0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs11688466 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs11688974 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11690602 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs11691311 | 0.81[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11691316 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11693558 | 0.81[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11694971 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs11695746 | 0.96[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs12990559 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12996594 | 1.00[AFR][1000 genomes] |
rs12999041 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs12999792 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs13001087 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs13001322 | 0.81[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs13008004 | 1.00[AFR][1000 genomes] |
rs13008414 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs13010045 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs13020607 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs13020846 | 0.81[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs13027486 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs13034164 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs13034200 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs13034238 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs17281203 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs243417 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs34062495 | 0.84[AMR][1000 genomes] |
rs34087027 | 0.93[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs34228135 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs34731630 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs34737330 | 0.81[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs34875932 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs34939949 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs34961369 | 0.86[AMR][1000 genomes] |
rs34981967 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs35338260 | 1.00[AFR][1000 genomes] |
rs35432246 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs35486466 | 0.96[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs35506144 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs35876832 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs359688 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs359703 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs359704 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs359705 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs359706 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs359708 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs360290 | 0.86[EUR][1000 genomes] |
rs360291 | 0.86[EUR][1000 genomes] |
rs360292 | 0.86[EUR][1000 genomes] |
rs360293 | 0.86[EUR][1000 genomes] |
rs360295 | 0.86[EUR][1000 genomes] |
rs360296 | 0.86[EUR][1000 genomes] |
rs360297 | 0.86[EUR][1000 genomes] |
rs360298 | 0.86[EUR][1000 genomes] |
rs360299 | 0.86[EUR][1000 genomes] |
rs360300 | 0.86[EUR][1000 genomes] |
rs360301 | 0.86[EUR][1000 genomes] |
rs360302 | 0.86[EUR][1000 genomes] |
rs360303 | 0.86[EUR][1000 genomes] |
rs360304 | 0.86[EUR][1000 genomes] |
rs360305 | 0.86[EUR][1000 genomes] |
rs360306 | 0.84[EUR][1000 genomes] |
rs360307 | 0.86[EUR][1000 genomes] |
rs360308 | 0.86[EUR][1000 genomes] |
rs360309 | 0.86[EUR][1000 genomes] |
rs360310 | 0.86[EUR][1000 genomes] |
rs360312 | 0.86[EUR][1000 genomes] |
rs360313 | 0.86[EUR][1000 genomes] |
rs360316 | 0.85[EUR][1000 genomes] |
rs360317 | 0.85[EUR][1000 genomes] |
rs360318 | 0.85[EUR][1000 genomes] |
rs360319 | 0.84[EUR][1000 genomes] |
rs36061035 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs66530889 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs66701958 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs66815786 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs66993274 | 1.00[AFR][1000 genomes] |
rs67155347 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs67271291 | 0.83[AFR][1000 genomes] |
rs71413444 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs72831489 | 1.00[AFR][1000 genomes] |
rs72841597 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1013181 | chr2:126451639-127246965 | Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
2 | nsv997962 | chr2:126464195-127234384 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
3 | nsv1001995 | chr2:126506739-127314488 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
4 | nsv534297 | chr2:126506966-127245682 | Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
5 | nsv1013215 | chr2:126857279-127127152 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
6 | nsv535918 | chr2:126857279-127127152 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
7 | nsv874998 | chr2:126917647-127175585 | Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
8 | nsv583010 | chr2:126962441-127079722 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
9 | nsv1002265 | chr2:127029745-127733458 | Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
10 | nsv535919 | chr2:127029745-127733458 | Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
11 | esv2757831 | chr2:127033017-127161094 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
12 | esv2759089 | chr2:127033017-127161094 | Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:127064400-127069800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
2 | chr2:127064600-127069600 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
3 | chr2:127064600-127070400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
4 | chr2:127064800-127067400 | Active TSS | K562 | blood |
5 | chr2:127064800-127069800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
6 | chr2:127066000-127069600 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
7 | chr2:127066000-127069800 | Weak transcription | H1 Cell Line | embryonic stem cell |
8 | chr2:127066200-127069600 | Weak transcription | H9 Cell Line | embryonic stem cell |
9 | chr2:127066200-127070600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |