Variant report
Variant | nsv823515 |
---|---|
Chromosome Location | chr6:32396418-32398887 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs9268579 | chr6:32396450-32396451 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs3129846 | chr6:32396475-32396476 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
3 | rs367756142 | chr6:32396497-32396498 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs3129847 | chr6:32396506-32396507 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
5 | rs565368635 | chr6:32396529-32396530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs151082168 | chr6:32396554-32396555 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs3135342 | chr6:32396615-32396616 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
8 | rs372681739 | chr6:32396671-32396672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs554070251 | chr6:32396682-32396683 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs56687397 | chr6:32396683-32396684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs61104013 | chr6:32396688-32396689 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs530441519 | chr6:32396716-32396717 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs571988225 | chr6:32396748-32396749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs570297711 | chr6:32396767-32396768 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs115098399 | chr6:32396787-32396788 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs186747933 | chr6:32396807-32396808 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs571324335 | chr6:32396888-32396889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs9268580 | chr6:32396905-32396906 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs553366517 | chr6:32396911-32396912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs9268581 | chr6:32396930-32396931 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
21 | rs9268582 | chr6:32396964-32396965 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs368010693 | chr6:32396965-32396966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs7754635 | chr6:32397028-32397029 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs373744242 | chr6:32397041-32397042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs3129848 | chr6:32397049-32397050 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
26 | rs7754263 | chr6:32397096-32397097 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs577284970 | chr6:32397133-32397134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs541140320 | chr6:32397188-32397189 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs559815503 | chr6:32397189-32397190 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs7754570 | chr6:32397190-32397191 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs11757645 | chr6:32397208-32397209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs115026645 | chr6:32397250-32397251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs9268583 | chr6:32397266-32397267 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs11757665 | chr6:32397278-32397279 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs552745283 | chr6:32397294-32397295 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs386699330 | chr6:32397308-32397309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs3129849 | chr6:32397309-32397310 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
38 | rs547067566 | chr6:32397311-32397312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs565368317 | chr6:32397327-32397328 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs535835031 | chr6:32397338-32397339 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs7754753 | chr6:32397401-32397402 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs576287898 | chr6:32397402-32397403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs9268585 | chr6:32397403-32397404 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
44 | rs143882781 | chr6:32397432-32397433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs73404912 | chr6:32397433-32397434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs183097687 | chr6:32397493-32397494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs114022414 | chr6:32397560-32397561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs138010246 | chr6:32397574-32397575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs201097158 | chr6:32397575-32397576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs74589609 | chr6:32397576-32397577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Follicular lymphoma | 20505157 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Leukemia | 21518781 | CNVD |
Cancer | 21637783 | CNVD |
Facial dysmorphism | 22105932 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Bladder cancer | 19088036 | CNVD |
Wilms tumour | 21544195 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Biliary cancer | 19435499 | CNVD |
Malaria | 21533027 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 21448237 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Breast cancer | 22844521 | CNVD |
Gestational infection | 22844521 | CNVD |
HIV/AIDS | 22844521 | CNVD |
Head circumference | 22844521 | CNVD |
Infertility | 22844521 | CNVD |
Ovarian cancer | 22844521 | CNVD |
Prostate cancer | 22844521 | CNVD |
Psoriasis | 22844521 | CNVD |
Recurrent birth weight diabetes | 22844521 | CNVD |
Rheumatoid arthritis | 22844521 | CNVD |
Sclerosis systemic | 22844521 | CNVD |
Systemic lupus erythematosus | 22844521 | CNVD |
Obesity | 22844521 | CNVD |
Recurrent pregnancy loss | 22844521 | CNVD |
Intellectual disability | 21811512 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
Nasopharyngeal cancer | 22815911 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 16790693 | CNVD |
Cervical cancer | 21062161 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Gastric cancer | 17908304 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Schizophrenia | 19571808 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
abnormal development | 18461090 | CNVD |
Breast cancer | 16397240 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Systemic lupus erythematosus | 20877625 | CNVD |
Cleidocranial dysplasia | 18696259 | CNVD |
Holoprosencephaly | 21359414 | CNVD |
Liposarcoma | 21253554 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Fibroblasts | 20926602 | CNVD |
Systemic lupus erythematosus | 19279649 | CNVD |
Retinoblastoma | 16790693 | CNVD |
Acute myocardial infarction | 18032375 | CNVD |
Renal cell carcinoma | 19150565 | CNVD |
Systemic lupus erythematosus | 19591781 | CNVD |
Attention deficit hyperactivity disorder | 19287146 | CNVD |
Autism | 19287146 | CNVD |
Erythema nodosum in leprosy | 19287146 | CNVD |
Henoch-schoenlein purpura | 19287146 | CNVD |
Liver cirrhosis | 19287146 | CNVD |
Systemic lupus erythematosus | 19287146 | CNVD |
Autoimmune disease | 19135723 | CNVD |
Congenital adrenal hyperplasia | 18478071 | CNVD |
Systemic lupus erythematosus | 19287147 | CNVD |
Osteosarcoma | 16790693 | CNVD |
Acute lymphoblastic leukemia | 22237106 | 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 |
Cancer | 22183965 | CNVD |
Melanoma | 22183965 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Incontinentia Pigmenti | 22033527 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Encephalopathy | 20692195 | CNVD |
Immune disease | 17576883 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:32390000-32410000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |