| Chrom. | Start | End | Enhancer ID | TSS of gene | Distance between enhancer and TSS | Tissues that enhancer appears | More |
|---|---|---|---|---|---|---|---|
| chr11 | 62413039 | 62413428 | vista10514 | 62477317 | 63889 |
|
|
| chr11 | 62441871 | 62442205 | vista10515 | 62477317 | 35112 |
|
|
| chr11 | 62552725 | 62556875 | enh1812 | 62477317 | 75408 |
|
| Chrom. | Start | End | TF name | Source | Predicted site? | Tissue | TSS of gene | Distance between TFBS and gene | id | More |
|---|
| Chrom. | Position | dbSNP ID | Reference Allele | Alternative Allele | Distance between TSS and SNP | Tissue | q Value | id | More |
|---|---|---|---|---|---|---|---|---|---|
| chr11 | 62462217 | rs181164682 | T | A | 0 | Esophagus | 4.10087e-10 | 2032686 | |
| chr11 | 62462217 | rs181164682 | T | A | 0 | Heart | 1.4382e-11 | 2032686 | |
| chr11 | 62473751 | rs117597269 | G | T | 0 | Pancreas | 6.52304e-07 | 2032700 | |
| chr11 | 62389668 | rs201474005 | A | AC | 68079 | Breast | 7.32193e-15 | 2032551 | |
| chr11 | 62473751 | rs117597269 | G | T | 0 | Spleen | 1.32559e-12 | 2032700 | |
| chr11 | 62462217 | rs181164682 | T | A | 0 | Ovary | 0.324631 | 2032686 | |
| chr11 | 62559351 | rs118167825 | T | C | 82034 | Uterus | 0.00126902 | 2032887 | |
| chr11 | 61824298 | rs147981159 | G | A | 633449 | Thyroid | 0.00901344 | 2029283 | |
| chr11 | 62559351 | rs118167825 | T | C | 82034 | Liver | 6.16284e-08 | 2032887 | |
| chr11 | 62473751 | rs117597269 | G | T | 0 | Lung | 1.14283e-30 | 2032700 |
| Genomic Location | chr11:62457747-62477317[-] |
| TSS | 62477317 |
| Gene Name | BSCL2 |
| Ensembl ID | ENSG00000168000.10 |
| ENTREZID | 26580 |
| Uniprot | |
| A0A024R549 | |
| Q96G97 | |
| A0A024R540 | |
| Protein Name | |
| isoform CRA_b | |
| Berardinelli-Seip congenital lipodystrophy 2 isoform 1 | |
| Berardinelli-Seip congenital lipodystrophy 2 isoform 2 | |
| HCG2020143 | |
| Seipin | |
| Truncated seipin |