Variant report
Variant | esv3411710 |
---|---|
Chromosome Location | chr5:177912209-177912617 |
allele | n/a |
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:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:177912045..177914389-chr5:177919098..177921696,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs10074825 | chr5:177912216-177912217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs10060345 | chr5:177912247-177912248 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs571430773 | chr5:177912248-177912249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs146702294 | chr5:177912267-177912268 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs187718184 | chr5:177912307-177912308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs139003960 | chr5:177912332-177912333 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs193232849 | chr5:177912365-177912366 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs559614308 | chr5:177912389-177912390 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs555273216 | chr5:177912411-177912412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs149887598 | chr5:177912415-177912416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs540843050 | chr5:177912431-177912432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs565449325 | chr5:177912447-177912448 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs552689515 | chr5:177912452-177912453 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs184082665 | chr5:177912473-177912474 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs544251473 | chr5:177912485-177912486 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs571385322 | chr5:177912496-177912497 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs562434508 | chr5:177912509-177912510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs188616900 | chr5:177912516-177912517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs2088566 | chr5:177912571-177912572 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs566462044 | chr5:177912590-177912591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs145388355 | chr5:177912607-177912608 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 20164919 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 16751803 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Glioma | 20126413 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Renal cell carcinoma | 19377443 | CNVD |
Lung cancer | 18438408 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Prostate cancer | 18632612 | CNVD |
epilepsy | 18472482 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Sotos syndrome | 21572526 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Sotos syndrome | 17561922 | CNVD |
Sotos syndrome | 16773131 | CNVD |
Mental retardation | 16773131 | CNVD |
Sotos syndrome | 22470819 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Acute myeloid leukemia | 18000384 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Chordoma | 18071362 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
abnormal development | 18461090 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Lung cancer | 17297452 | CNVD |
Cancer | 20164920 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 21804112 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Sotos syndrome | 22283845 | CNVD |
Breast cancer | 16272173 | CNVD |
Sotos syndrome | 20503325 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Congenital Hypertrichosis Syndrome | 21636067 | CNVD |
T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
Breast cancer | 19181860 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Ehlers-danlos syndrome | 17576883 | CNVD |
Lung cancer | 17086460 | CNVD |
Autism | 19246517 | CNVD |
Basal cell lymphoma | 19029149 | CNVD |
Diffuse large b-cell lymphoma | 19029149 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:177906000-177913200 | Weak transcription | Fetal Stomach | stomach |
2 | chr5:177909800-177913200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr5:177910800-177913000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
4 | chr5:177911000-177912800 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
5 | chr5:177911000-177912800 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
6 | chr5:177911200-177913200 | Weak transcription | Primary B cells from cord blood | blood |
7 | chr5:177911200-177914200 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
8 | chr5:177911400-177912800 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
9 | chr5:177911400-177913000 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
10 | chr5:177911600-177912600 | Weak transcription | Primary monocytes fromperipheralblood | blood |
11 | chr5:177912200-177912600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
12 | chr5:177912600-177916400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
13 | chr5:177912600-177917000 | Enhancers | Primary monocytes fromperipheralblood | blood |