Variant report
Variant | nsv972524 |
---|---|
Chromosome Location | chr8:6069481-6080853 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs565339287 | chr8:6069549-6069550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs78548670 | chr8:6069609-6069610 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs531206931 | chr8:6069651-6069652 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs190366365 | chr8:6069709-6069710 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs147478484 | chr8:6069748-6069749 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs182961109 | chr8:6069767-6069768 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs549097043 | chr8:6069797-6069798 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs117741941 | chr8:6069816-6069817 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs534430405 | chr8:6069844-6069845 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs140018589 | chr8:6069845-6069846 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs188691735 | chr8:6069851-6069852 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs557020316 | chr8:6069867-6069868 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs537334839 | chr8:6069880-6069881 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs73188695 | chr8:6069903-6069904 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs539444780 | chr8:6069911-6069912 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs573692027 | chr8:6069916-6069917 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs143797851 | chr8:6069940-6069941 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs7012285 | chr8:6069941-6069942 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs573240372 | chr8:6069972-6069973 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs553744333 | chr8:6069983-6069984 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs35341222 | chr8:6069997-6069998 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs545192434 | chr8:6070000-6070001 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs147250487 | chr8:6070019-6070020 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs192449354 | chr8:6070034-6070035 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs551273547 | chr8:6070042-6070043 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs140560340 | chr8:6070068-6070069 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs118159512 | chr8:6070080-6070081 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs548962061 | chr8:6070082-6070083 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs542439039 | chr8:6070088-6070089 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs555564274 | chr8:6070092-6070093 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs373322028 | chr8:6070100-6070101 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs534688535 | chr8:6070105-6070106 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs74658841 | chr8:6070121-6070122 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs571396992 | chr8:6070134-6070135 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs142224494 | chr8:6070156-6070157 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs151232368 | chr8:6070181-6070182 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs569080445 | chr8:6070201-6070202 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs573558878 | chr8:6070209-6070210 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs139144639 | chr8:6070216-6070217 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs552919053 | chr8:6070227-6070228 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs573170485 | chr8:6070233-6070234 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs182543377 | chr8:6070280-6070281 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs188060048 | chr8:6070299-6070300 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs73188696 | chr8:6070313-6070314 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs544860937 | chr8:6070320-6070321 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs17465708 | chr8:6070364-6070365 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs370310595 | chr8:6070366-6070367 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs530372411 | chr8:6070373-6070374 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs546214244 | chr8:6070389-6070390 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs533193250 | chr8:6070393-6070394 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
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 |
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 |
Autism | 22495311 | CNVD |
Congenital diaphragmatic hernia | 21064195 | 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 |
Colorectal cancer | 16774939 | CNVD |
Breast cancer | 21364760 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Melanoma | 20688739 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:6069000-6070600 | Weak transcription | Right Atrium | heart |
2 | chr8:6069600-6072800 | Enhancers | Fetal Brain Male | brain |
3 | chr8:6070000-6071400 | Enhancers | Fetal Brain Female | brain |
4 | chr8:6070400-6070600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr8:6070400-6070600 | Bivalent Enhancer | Hela-S3 | cervix |
6 | chr8:6070600-6070800 | Enhancers | Right Atrium | heart |
7 | chr8:6070600-6071200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
8 | chr8:6071400-6071800 | Weak transcription | Fetal Brain Female | brain |
9 | chr8:6071800-6072200 | Enhancers | Fetal Brain Female | brain |
10 | chr8:6080800-6081800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
11 | chr8:6080800-6082000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |