Variant report
Variant | rs9970697 |
---|---|
Chromosome Location | chr1:224650283-224650284 |
allele | A/G |
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 | chr1:224644724..224648422-chr1:224649777..224653927,3 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10127813 | 0.85[EUR][1000 genomes] |
rs10127953 | 0.85[EUR][1000 genomes] |
rs10128058 | 0.85[EUR][1000 genomes] |
rs10159333 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs10495219 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs10753465 | 0.87[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs10753466 | 0.87[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs10753467 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs10753468 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs10799569 | 0.86[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs10916606 | 0.84[EUR][1000 genomes] |
rs10916607 | 0.87[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs10916614 | 0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs10916616 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs10916617 | 0.98[EUR][1000 genomes] |
rs10916619 | 0.98[EUR][1000 genomes] |
rs11576835 | 0.84[EUR][1000 genomes] |
rs11577170 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs11577183 | 0.84[EUR][1000 genomes] |
rs11578709 | 0.89[EUR][1000 genomes] |
rs11579952 | 0.85[EUR][1000 genomes] |
rs11584057 | 0.86[EUR][1000 genomes] |
rs11584247 | 0.84[EUR][1000 genomes] |
rs11584638 | 0.95[EUR][1000 genomes] |
rs11584980 | 0.84[EUR][1000 genomes] |
rs11586729 | 0.84[EUR][1000 genomes] |
rs11588973 | 0.86[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs11590658 | 0.98[EUR][1000 genomes] |
rs11800613 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs11801436 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs11801645 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs11803414 | 0.86[EUR][1000 genomes] |
rs11803981 | 0.85[EUR][1000 genomes] |
rs11805973 | 0.86[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs11807763 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs11807942 | 0.84[EUR][1000 genomes] |
rs11811053 | 0.81[EUR][1000 genomes] |
rs12062871 | 0.86[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs12731035 | 0.87[EUR][1000 genomes] |
rs12731630 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs12738799 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs12739486 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs12740255 | 0.84[EUR][1000 genomes] |
rs12742821 | 0.84[EUR][1000 genomes] |
rs12742989 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs12743200 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs12745610 | 0.85[EUR][1000 genomes] |
rs12747286 | 0.92[EUR][1000 genomes] |
rs12751161 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs12754832 | 0.84[EUR][1000 genomes] |
rs12755338 | 0.83[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs12755816 | 0.85[EUR][1000 genomes] |
rs12758302 | 0.90[EUR][1000 genomes] |
rs12758579 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs12759275 | 0.84[EUR][1000 genomes] |
rs1539207 | 0.87[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs1544196 | 0.87[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs16848365 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs17503938 | 0.84[EUR][1000 genomes] |
rs17570292 | 0.88[EUR][1000 genomes] |
rs2185684 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs28434172 | 0.92[EUR][1000 genomes] |
rs2897048 | 0.93[EUR][1000 genomes] |
rs34791963 | 0.86[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs35011635 | 0.94[EUR][1000 genomes] |
rs35031726 | 0.85[EUR][1000 genomes] |
rs35067427 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs35169600 | 0.83[EUR][1000 genomes] |
rs35277713 | 0.95[EUR][1000 genomes] |
rs35303987 | 0.95[EUR][1000 genomes] |
rs35341841 | 0.82[EUR][1000 genomes] |
rs35365551 | 0.91[EUR][1000 genomes] |
rs35571080 | 0.98[EUR][1000 genomes] |
rs35767322 | 0.90[EUR][1000 genomes] |
rs35804313 | 0.89[EUR][1000 genomes] |
rs35915186 | 0.94[EUR][1000 genomes] |
rs35972228 | 0.82[EUR][1000 genomes] |
rs36138926 | 0.85[EUR][1000 genomes] |
rs4653587 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs4654037 | 0.87[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs55730749 | 0.98[EUR][1000 genomes] |
rs56223447 | 0.84[EUR][1000 genomes] |
rs6426121 | 0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs6426123 | 0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs6426125 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs6426126 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs66467176 | 0.86[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs6663522 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs6671751 | 0.85[EUR][1000 genomes] |
rs6672859 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs6675858 | 0.84[EUR][1000 genomes] |
rs6691779 | 0.84[EUR][1000 genomes] |
rs6693287 | 0.84[EUR][1000 genomes] |
rs6698343 | 0.88[EUR][1000 genomes] |
rs6701145 | 0.84[EUR][1000 genomes] |
rs67065875 | 0.85[EUR][1000 genomes] |
rs68037178 | 0.83[EUR][1000 genomes] |
rs71644786 | 0.91[EUR][1000 genomes] |
rs7365151 | 0.98[EUR][1000 genomes] |
rs7512431 | 0.85[EUR][1000 genomes] |
rs7513208 | 0.84[EUR][1000 genomes] |
rs7514284 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs7514575 | 0.86[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs7517754 | 0.86[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs7518109 | 0.85[EUR][1000 genomes] |
rs7519734 | 0.85[EUR][1000 genomes] |
rs7522956 | 0.85[EUR][1000 genomes] |
rs7527044 | 0.86[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs7529067 | 0.85[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs7529310 | 0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs867362 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs885606 | 0.89[AMR][1000 genomes];0.99[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv8868 | chr1:224383023-224752531 | Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
2 | nsv1014717 | chr1:224551939-224885543 | Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
3 | nsv535311 | chr1:224551939-224885543 | Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs9970697 | CNIH4 | cis | Nerve Tibial | GTEx |
rs9970697 | CNIH4 | cis | Muscle Skeletal | GTEx |
rs9970697 | CNIH4 | cis | Skin Sun Exposed Lower leg | GTEx |
rs9970697 | CNIH4 | cis | Heart Left Ventricle | GTEx |
rs9970697 | CNIH4 | cis | Esophagus Muscularis | GTEx |
rs9970697 | CNIH4 | cis | Thyroid | GTEx |
rs9970697 | CNIH4 | cis | Stomach | GTEx |
rs9970697 | CNIH4 | cis | Adipose Subcutaneous | GTEx |
rs9970697 | CNIH4 | cis | Esophagus Mucosa | GTEx |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:224628600-224653600 | Weak transcription | Primary T regulatory cells fromperipheralblood | blood |
2 | chr1:224644800-224651200 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
3 | chr1:224645400-224652000 | Weak transcription | Fetal Muscle Leg | muscle |
4 | chr1:224645400-224653400 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
5 | chr1:224645400-224653400 | Weak transcription | GM12878-XiMat | blood |
6 | chr1:224645400-224656200 | Weak transcription | Primary T cells from cord blood | blood |
7 | chr1:224647600-224651400 | Weak transcription | Fetal Brain Male | brain |
8 | chr1:224647800-224650800 | Weak transcription | Primary hematopoietic stem cells | blood |
9 | chr1:224647800-224650800 | Weak transcription | Ovary | ovary |
10 | chr1:224648400-224652800 | Weak transcription | K562 | blood |