Variant report
| Variant | nsv1033242 |
|---|---|
| Chromosome Location | chr8:3283564-3304283 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs80245002 | chr8:3293035-3293036 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs575081451 | chr8:3293037-3293038 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs536071153 | chr8:3293038-3293039 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs7018165 | chr8:3293050-3293051 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs573097969 | chr8:3293052-3293053 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs540532786 | chr8:3293063-3293064 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs77511473 | chr8:3293064-3293065 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs11776630 | chr8:3293067-3293068 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs187744534 | chr8:3293084-3293085 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs193292733 | chr8:3293120-3293121 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs140105324 | chr8:3293126-3293127 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs145208894 | chr8:3293131-3293132 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs7018325 | chr8:3293143-3293144 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 14 | rs566156679 | chr8:3293146-3293147 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs527938143 | chr8:3293150-3293151 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs368391435 | chr8:3293181-3293182 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs185008724 | chr8:3293182-3293183 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs532014705 | chr8:3293190-3293191 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs138128369 | chr8:3293198-3293199 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs528511239 | chr8:3293199-3293200 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs536030981 | chr8:3293239-3293240 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs142657578 | chr8:3293248-3293249 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs190252895 | chr8:3293250-3293251 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs548535017 | chr8:3293251-3293252 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs533814731 | chr8:3293253-3293254 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs75706440 | chr8:3293255-3293256 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs66769321 | chr8:3293273-3293274 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs577292098 | chr8:3293274-3293275 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs544644556 | chr8:3293287-3293288 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs192596694 | chr8:3293291-3293292 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs144830775 | chr8:3293301-3293302 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs542318464 | chr8:3293319-3293320 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs138578076 | chr8:3293323-3293324 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs527901886 | chr8:3293339-3293340 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs546164923 | chr8:3293341-3293342 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs564468592 | chr8:3293354-3293355 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs28526250 | chr8:3293357-3293358 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 38 | rs149598036 | chr8:3293376-3293377 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs568524593 | chr8:3293379-3293380 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs184224400 | chr8:3293382-3293383 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs73660004 | chr8:3293388-3293389 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 42 | rs566510116 | chr8:3293395-3293396 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs114184450 | chr8:3293397-3293398 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs188803915 | chr8:3293408-3293409 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs538426946 | chr8:3293419-3293420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs538232195 | chr8:3293448-3293449 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs556555231 | chr8:3293450-3293451 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs574889534 | chr8:3293464-3293465 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs544148170 | chr8:3293467-3293468 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs535550280 | chr8:3293471-3293472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:122)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| 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 |
| 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 |
| Cancer | 20164919 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ductal carcinoma | 22052326 | 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 |
| Autism | 22495311 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Ovarian cancer | 22355333 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164920 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Developmental delay | 19128483 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Leukoplakia | 24403051 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Seminomas | 18059402 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Schizophrenia | 19805367 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Colorectal cancer | 22014273 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:3293000-3293400 | ZNF genes & repeats | Pancreas | Pancrea |
| 2 | chr8:3293400-3293600 | Enhancers | Brain Cingulate Gyrus | brain |
| 3 | chr8:3293600-3294200 | Weak transcription | Brain Cingulate Gyrus | brain |
| 4 | chr8:3293600-3295000 | Enhancers | Brain Substantia Nigra | brain |
| 5 | chr8:3293600-3295200 | Enhancers | Brain Hippocampus Middle | brain |
| 6 | chr8:3294200-3294800 | Enhancers | Brain Cingulate Gyrus | brain |
| 7 | chr8:3295000-3320200 | Weak transcription | Brain Substantia Nigra | brain |
| 8 | chr8:3303600-3304600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 9 | chr8:3303800-3304600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 10 | chr8:3303800-3304600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 11 | chr8:3303800-3304800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 12 | chr8:3304000-3304400 | Enhancers | Brain Anterior Caudate | brain |
| 13 | chr8:3304000-3304800 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 14 | chr8:3304200-3304600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 15 | chr8:3304200-3304600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
