Variant report
| Variant | esv3391747 |
|---|---|
| Chromosome Location | chr3:24671348-24673346 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs548973503 | chr3:24671353-24671354 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs547541587 | chr3:24671405-24671406 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs527793720 | chr3:24671439-24671440 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs550243327 | chr3:24671447-24671448 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs569405536 | chr3:24671471-24671472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs192009531 | chr3:24671476-24671477 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs552288937 | chr3:24671494-24671495 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs536303205 | chr3:24671519-24671520 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs532065569 | chr3:24671524-24671525 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs184464436 | chr3:24671543-24671544 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs186987094 | chr3:24671602-24671603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs78643439 | chr3:24671617-24671618 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs578181781 | chr3:24671642-24671643 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs11717800 | chr3:24671671-24671672 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs55723486 | chr3:24671717-24671718 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs75815081 | chr3:24671719-24671720 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs191877778 | chr3:24671726-24671727 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs150681299 | chr3:24671744-24671745 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs2362759 | chr3:24671747-24671748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs79071002 | chr3:24671790-24671791 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs184273975 | chr3:24671792-24671793 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs72619931 | chr3:24671846-24671847 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs547613332 | chr3:24671848-24671849 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs375949946 | chr3:24671857-24671858 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs189225288 | chr3:24671895-24671896 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs529902291 | chr3:24671937-24671938 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs534268227 | chr3:24671942-24671943 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs570318243 | chr3:24672842-24672843 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs375539770 | chr3:24672856-24672857 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs144712417 | chr3:24672857-24672858 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs547711532 | chr3:24672883-24672884 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs566029043 | chr3:24672934-24672935 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs536486302 | chr3:24672968-24672969 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs554701136 | chr3:24673002-24673003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs556541748 | chr3:24673013-24673014 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs576481233 | chr3:24673102-24673103 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs575411610 | chr3:24673133-24673134 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs537119695 | chr3:24673157-24673158 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs114456303 | chr3:24673158-24673159 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs577200281 | chr3:24673167-24673168 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs541436399 | chr3:24673195-24673196 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Neuroblastoma | 17327916 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 20688739 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:24669400-24672000 | Enhancers | Fetal Intestine Large | intestine |
| 2 | chr3:24670400-24672000 | Enhancers | Fetal Intestine Small | intestine |
| 3 | chr3:24671200-24671800 | Enhancers | Duodenum Mucosa | Duodenum |
| 4 | chr3:24671200-24672000 | Enhancers | Stomach Mucosa | stomach |
| 5 | chr3:24671400-24671800 | Enhancers | Liver | Liver |
| 6 | chr3:24672800-24673200 | Enhancers | Fetal Brain Male | brain |
