Variant report
Variant | esv3393783 |
---|---|
Chromosome Location | chr6:32313574-32314622 |
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 | rs542210316 | chr6:32313635-32313636 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs369782617 | chr6:32313643-32313644 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs3117133 | chr6:32313653-32313654 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
4 | rs190568299 | chr6:32313765-32313766 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs201510456 | chr6:32313784-32313785 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs200087429 | chr6:32313785-32313786 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs376175001 | chr6:32313789-32313790 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs369643577 | chr6:32313790-32313791 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs372744005 | chr6:32313792-32313793 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs565108441 | chr6:32313807-32313808 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs532160052 | chr6:32313812-32313813 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs377537769 | chr6:32313867-32313868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs111368029 | chr6:32314055-32314056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs547911246 | chr6:32314088-32314089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs566177061 | chr6:32314089-32314090 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs374475970 | chr6:32314090-32314091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs368399960 | chr6:32314091-32314092 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs183151946 | chr6:32314118-32314119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs78363691 | chr6:32314154-32314155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs566084887 | chr6:32314182-32314183 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs369986094 | chr6:32314183-32314184 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs9281746 | chr6:32314184-32314185 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs537774129 | chr6:32314186-32314187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs558940776 | chr6:32314187-32314188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs114997402 | chr6:32314261-32314262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs533039439 | chr6:32314282-32314283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs557009605 | chr6:32314307-32314308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs201693547 | chr6:32314311-32314312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs201999567 | chr6:32314313-32314314 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs199938350 | chr6:32314315-32314316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs534894714 | chr6:32314342-32314343 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs536217216 | chr6:32314366-32314367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs386699293 | chr6:32314483-32314484 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs2395147 | chr6:32314484-32314485 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs143255241 | chr6:32314488-32314489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs554387295 | chr6:32314497-32314498 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs554159461 | chr6:32314512-32314513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs573189378 | chr6:32314563-32314564 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs3117131 | chr6:32314594-32314595 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs565025429 | chr6:32314620-32314621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs545450031 | chr6:32314621-32314622 | 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 |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Immune disease | 17576883 | CNVD |
Multiple myeloma | 16616336 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:32312600-32315200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |