Variant report
Variant | esv1631243 |
---|---|
Chromosome Location | chr19:56746563-56746808 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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Variant related genes | Relation type |
---|---|
ZSCAN5D | TF binding region |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs71184340 | chr19:56746563-56746564 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs75651460 | chr19:56746584-56746585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs112603320 | chr19:56746590-56746591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs376237374 | chr19:56746608-56746609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs368481199 | chr19:56746642-56746643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs71352852 | chr19:56746654-56746655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs71352860 | chr19:56746660-56746661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs71352875 | chr19:56746665-56746666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs62122504 | chr19:56746674-56746675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs71352856 | chr19:56746678-56746679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs376323926 | chr19:56746689-56746690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs71352867 | chr19:56746700-56746701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs71352868 | chr19:56746709-56746710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs71352864 | chr19:56746712-56746713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs71333206 | chr19:56746713-56746714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs67236929 | chr19:56746724-56746725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs555967118 | chr19:56746727-56746728 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs71333210 | chr19:56746730-56746731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs368071797 | chr19:56746744-56746745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs71352871 | chr19:56746748-56746749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs375196163 | chr19:56746782-56746783 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs576179460 | chr19:56746801-56746802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Myelodysplastic syndrome | 17634407 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Cancer | 20164919 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Congenital nephrotic syndrome | 18421352 | CNVD |
Astrocytoma | 17934521 | CNVD |
Leukemia | 17361228 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioma | 21971842 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
renal disease | 20603712 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Chordoma | 18071362 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Bladder cancer | 21909424 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Wilms tumour | 21544195 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18852474 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Cervical cancer | 21062161 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Prostate cancer | 16573809 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Lung cancer | 18438408 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Neuroblastoma | 20406844 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelofibrosis | 22110671 | CNVD |
T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
Alzheimer''s disease | 22166940 | CNVD |
Heart disease | 21282601 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Basal cell lymphoma | 19029149 | CNVD |
Diffuse large b-cell lymphoma | 19029149 | CNVD |
Breast cancer | 20409316 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:56729200-56803000 | Weak transcription | Pancreas | Pancrea |
2 | chr19:56734600-56756400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
3 | chr19:56735200-56749200 | Weak transcription | Spleen | Spleen |
4 | chr19:56735400-56774400 | Weak transcription | Primary T cells from cord blood | blood |