Variant report
| Variant | rs339071 |
|---|---|
| Chromosome Location | chr7:128364127-128364128 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:128361867..128364880-chr7:128377679..128379846,3 | MCF-7 | breast: | |
| 2 | chr7:128359445..128361023-chr7:128362539..128364353,2 | K562 | blood: | |
| 3 | chr7:128355752..128358740-chr7:128362417..128366090,6 | K562 | blood: | |
| 4 | chr7:128362954..128365898-chr7:128384016..128385996,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000128595 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:34)
| rs_ID | r2[population] |
|---|---|
| rs10224862 | 1.00[ASN][1000 genomes] |
| rs10242806 | 1.00[ASN][1000 genomes] |
| rs10274878 | 0.90[ASN][1000 genomes] |
| rs10276810 | 0.95[ASN][1000 genomes] |
| rs10954205 | 0.89[ASN][1000 genomes] |
| rs11761312 | 1.00[ASN][1000 genomes] |
| rs11768485 | 0.89[ASN][1000 genomes] |
| rs12535238 | 1.00[ASN][1000 genomes] |
| rs12536288 | 0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs12706858 | 1.00[ASN][1000 genomes] |
| rs13233377 | 1.00[ASN][1000 genomes] |
| rs13237593 | 1.00[ASN][1000 genomes] |
| rs339070 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs339074 | 0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs339079 | 1.00[ASN][1000 genomes] |
| rs339093 | 1.00[ASN][1000 genomes] |
| rs35825132 | 0.90[ASN][1000 genomes] |
| rs3816421 | 0.89[ASN][1000 genomes] |
| rs4289745 | 0.89[ASN][1000 genomes] |
| rs6943737 | 1.00[ASN][1000 genomes] |
| rs6946179 | 1.00[ASN][1000 genomes] |
| rs6960296 | 0.89[ASN][1000 genomes] |
| rs6961754 | 0.84[ASN][1000 genomes] |
| rs6971819 | 0.89[ASN][1000 genomes] |
| rs6972787 | 1.00[ASN][1000 genomes] |
| rs6976879 | 1.00[ASN][1000 genomes] |
| rs6977126 | 1.00[ASN][1000 genomes] |
| rs71548762 | 1.00[ASN][1000 genomes] |
| rs7778731 | 0.81[ASN][1000 genomes] |
| rs7787764 | 0.89[ASN][1000 genomes] |
| rs7790478 | 1.00[ASN][1000 genomes] |
| rs7804472 | 0.95[ASN][1000 genomes] |
| rs7810047 | 1.00[ASN][1000 genomes] |
| rs7811083 | 0.89[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv427806 | chr7:128179989-128428182 | ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
| 2 | nsv1016979 | chr7:128333070-128534438 | Active TSS Enhancers Flanking Active TSS Strong transcription Weak 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 regionlncRNAmiRNA target site | 55 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs339071 | CICP14 | cis | Nerve Tibial | GTEx |
| rs339071 | RP11-274B21.10 | cis | Thyroid | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:128349400-128378600 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 2 | chr7:128349800-128378200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 3 | chr7:128349800-128378400 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
| 4 | chr7:128361600-128378600 | Weak transcription | Right Atrium | heart |
