Variant report
Variant | nsv970034 |
---|---|
Chromosome Location | chr6:32311368-32313596 |
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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Variant related genes | Relation type |
---|---|
ENSG00000223335 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs527917547 | chr6:32311429-32311430 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs3132954 | chr6:32311459-32311460 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
3 | rs561793076 | chr6:32311503-32311504 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs190098425 | chr6:32311515-32311516 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs565800826 | chr6:32311549-32311550 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs72843221 | chr6:32311571-32311572 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs377040282 | chr6:32311693-32311694 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs550660547 | chr6:32311707-32311708 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs568874417 | chr6:32311751-32311752 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs181874256 | chr6:32311790-32311791 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs551427329 | chr6:32311798-32311799 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs566755711 | chr6:32311828-32311829 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs74223626 | chr6:32311834-32311835 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs376632664 | chr6:32311846-32311847 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs2395145 | chr6:32311871-32311872 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs2395146 | chr6:32311875-32311876 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs184969618 | chr6:32311949-32311950 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | mRNA abundance |
18 | rs28732194 | chr6:32311957-32311958 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs9279585 | chr6:32312042-32312043 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs145758755 | chr6:32312046-32312047 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs186333702 | chr6:32312049-32312050 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs77607556 | chr6:32312052-32312053 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs141539469 | chr6:32312055-32312056 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs6904320 | chr6:32312082-32312083 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
25 | rs188166009 | chr6:32312120-32312121 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs371447500 | chr6:32312132-32312133 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs146714775 | chr6:32312133-32312134 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs180885148 | chr6:32312152-32312153 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs118163679 | chr6:32312155-32312156 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs112891419 | chr6:32312171-32312172 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs554756891 | chr6:32312242-32312243 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs114539073 | chr6:32312274-32312275 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs543760628 | chr6:32312334-32312335 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs386699287 | chr6:32312351-32312352 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs112052317 | chr6:32312352-32312353 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs7383144 | chr6:32312353-32312354 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
37 | rs532835934 | chr6:32312418-32312419 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs186179246 | chr6:32312438-32312439 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs191374361 | chr6:32312453-32312454 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs117705671 | chr6:32312458-32312459 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs9268267 | chr6:32312495-32312496 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs373291925 | chr6:32312510-32312511 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs548839373 | chr6:32312521-32312522 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs9268268 | chr6:32312610-32312611 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
45 | rs181397799 | chr6:32312622-32312623 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs556277164 | chr6:32312623-32312624 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs571707977 | chr6:32312636-32312637 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs386699289 | chr6:32312637-32312638 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs9268270 | chr6:32312638-32312639 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
50 | rs4576281 | chr6:32312650-32312651 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | 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 |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Immune disease | 17576883 | CNVD |
Multiple myeloma | 16616336 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:32310000-32311600 | Enhancers | Primary B cells from peripheral blood | blood |
2 | chr6:32311200-32311800 | Enhancers | GM12878-XiMat | blood |
3 | chr6:32312200-32312600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
4 | chr6:32312600-32315200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |