Variant report
| Variant | nsv438032 |
|---|---|
| Chromosome Location | chr8:6823295-6824042 |
| 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:49 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2978951 | chr8:6823295-6823296 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs537969142 | chr8:6823354-6823355 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs550770482 | chr8:6823357-6823358 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs193265008 | chr8:6823370-6823371 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs536511352 | chr8:6823372-6823373 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs553299847 | chr8:6823374-6823375 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs573081605 | chr8:6823431-6823432 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs538610803 | chr8:6823435-6823436 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs79582267 | chr8:6823454-6823455 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs575271008 | chr8:6823464-6823465 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs543905857 | chr8:6823468-6823469 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs554701327 | chr8:6823494-6823495 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs574682571 | chr8:6823497-6823498 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs537008035 | chr8:6823521-6823522 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs185423814 | chr8:6823522-6823523 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs2738046 | chr8:6823542-6823543 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 17 | rs149972571 | chr8:6823551-6823552 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs2702912 | chr8:6823565-6823566 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs2738045 | chr8:6823568-6823569 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs147256525 | chr8:6823571-6823572 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs552783549 | chr8:6823575-6823576 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs572692767 | chr8:6823609-6823610 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs548713114 | chr8:6823615-6823616 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs188246353 | chr8:6823626-6823627 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs180946728 | chr8:6823638-6823639 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs546848390 | chr8:6823663-6823664 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs78566983 | chr8:6823698-6823699 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs538575244 | chr8:6823766-6823767 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs185022316 | chr8:6823770-6823771 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs560708083 | chr8:6823783-6823784 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs140608968 | chr8:6823788-6823789 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs574752714 | chr8:6823790-6823791 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs368164588 | chr8:6823791-6823792 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs554239326 | chr8:6823805-6823806 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs144546117 | chr8:6823811-6823812 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs374227194 | chr8:6823827-6823828 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs147820228 | chr8:6823831-6823832 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs188728645 | chr8:6823851-6823852 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs2702910 | chr8:6823891-6823892 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 40 | rs181100436 | chr8:6823907-6823908 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs369963548 | chr8:6823927-6823928 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs17078423 | chr8:6823933-6823934 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 43 | rs187000883 | chr8:6823937-6823938 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs191439870 | chr8:6823959-6823960 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs372788407 | chr8:6823970-6823971 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs114071586 | chr8:6824010-6824011 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs184123359 | chr8:6824018-6824019 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs377310414 | chr8:6824035-6824036 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs7005274 | chr8:6824042-6824043 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:138)
| Disease | PMID | Source |
|---|---|---|
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| abnormal development | 18461090 | CNVD |
| Crohn''s disease | 19220326 | CNVD |
| Psoriasis | 19220326 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Prostate cancer | 18515986 | CNVD |
| Chronic obstructive pulmonary disease | 20378733 | CNVD |
| Autism | 18414403 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Cervical cancer | 17311676 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Schizophrenia | 20877625 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Heart disease | 21282601 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 22429812 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| Breast cancer | 20940404 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| 8p-syndrome | 17576883 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21509527 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Autism | 22495311 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Seminomas | 18059402 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Cancer | 20164919 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Gastric cancer | 18160780 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Psoriasis | 20403174 | CNVD |
| Psoriasis | 20663923 | CNVD |
| Crohn''s disease | 16909382 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Crohn''s disease | 20877625 | CNVD |
| Inflammatory disorder | 20877625 | CNVD |
| Cardiac defect | 21933911 | CNVD |
| Psoriasis | 18059266 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Psoriasis | 20877625 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Colorectal cancer | 21128281 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Psoriasis | 18848619 | CNVD |
| Squamous cell cancer | 19047905 | CNVD |
| Colorectal cancer | 17229543 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Cognitive impairment | 21505072 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:6794600-6829200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr8:6822800-6830000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
| 3 | chr8:6824000-6824800 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
