Variant report
| Variant | nsv965707 |
|---|---|
| Chromosome Location | chr6:31486801-31488100 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:31476120..31478773-chr6:31484107..31486968,2 | K562 | blood: | |
| 2 | chr6:31459784..31461432-chr6:31485097..31486875,2 | K562 | blood: | |
| 3 | chr6:31485541..31487526-chr6:31489148..31492187,3 | K562 | blood: | |
| 4 | chr6:31482093..31483838-chr6:31485843..31488418,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| PPIAP9 | TF binding region |
| ENSG00000256851 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs144693013 | chr6:31486879-31486880 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs546931981 | chr6:31486881-31486882 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs185862247 | chr6:31486888-31486889 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs3093950 | chr6:31486901-31486902 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs9348874 | chr6:31486920-31486921 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs569324876 | chr6:31486957-31486958 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs138562934 | chr6:31486961-31486962 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs2429642 | chr6:31486962-31486963 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs566771490 | chr6:31487030-31487031 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs141753083 | chr6:31487037-31487038 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs192473859 | chr6:31487066-31487067 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs72847209 | chr6:31487067-31487068 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs9267456 | chr6:31487094-31487095 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs183362778 | chr6:31487105-31487106 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs575278448 | chr6:31487113-31487114 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs3130640 | chr6:31487144-31487145 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs369379058 | chr6:31487151-31487152 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs564075491 | chr6:31487168-31487169 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs187700748 | chr6:31487184-31487185 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs192193628 | chr6:31487192-31487193 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs2516490 | chr6:31487222-31487223 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 22 | rs9267457 | chr6:31487229-31487230 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs544404312 | chr6:31487230-31487231 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs568178307 | chr6:31487235-31487236 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs376425278 | chr6:31487244-31487245 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs562567558 | chr6:31487251-31487252 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs548617001 | chr6:31487270-31487271 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs533435476 | chr6:31487272-31487273 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs3130639 | chr6:31487320-31487321 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 30 | rs114871249 | chr6:31487350-31487351 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs527678834 | chr6:31487363-31487364 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs549009606 | chr6:31487387-31487388 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs567605054 | chr6:31487391-31487392 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs34451538 | chr6:31487454-31487455 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 35 | rs3130638 | chr6:31487540-31487541 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 36 | rs149762936 | chr6:31487555-31487556 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs3093997 | chr6:31487580-31487581 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 38 | rs540023390 | chr6:31487583-31487584 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs572939464 | chr6:31487636-31487637 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs376239562 | chr6:31487696-31487697 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs540224086 | chr6:31487737-31487738 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs535305362 | chr6:31487752-31487753 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs555435063 | chr6:31487758-31487759 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs573958391 | chr6:31487863-31487864 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs544538357 | chr6:31487864-31487865 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs562665724 | chr6:31487866-31487867 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs532989234 | chr6:31487883-31487884 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 48 | rs563752550 | chr6:31487897-31487898 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs528156396 | chr6:31487907-31487908 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs3132455 | chr6:31487954-31487955 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:138)
| 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 |
| Lung cancer | 18438408 | CNVD |
| Ewing''s sarcoma | 17952124 | 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 |
| HIV/AIDS | 22844521 | CNVD |
| Ovarian cancer | 22844521 | CNVD |
| Prostate cancer | 22844521 | CNVD |
| Psoriasis | 22844521 | CNVD |
| Rheumatoid arthritis | 22844521 | CNVD |
| Sclerosis systemic | 22844521 | CNVD |
| Systemic lupus erythematosus | 22844521 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Breast cancer | 21552322 | CNVD |
| Immune disease | 21076436 | CNVD |
| Autoimmune disease | 19135723 | CNVD |
| Systemic lupus erythematosus | 17953491 | CNVD |
| Recurrent Infections | 22737222 | CNVD |
| Systemic lupus erythematosus | 21904924 | CNVD |
| Ependymoma | 19289631 | CNVD |
| Gestational infection | 22844521 | CNVD |
| Head circumference | 22844521 | CNVD |
| Infertility | 22844521 | CNVD |
| Recurrent birth weight diabetes | 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 |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 16790693 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Breast cancer | 21785460 | 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 |
| Melanoma | 17363583 | CNVD |
| Myelofibrosis | 22110671 | 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 |
| Breast cancer | 21364760 | 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 |
| Congenital adrenal hyperplasia | 18478071 | CNVD |
| Systemic lupus erythematosus | 19287147 | CNVD |
| Osteosarcoma | 16790693 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | 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 |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Cancer | 20164919 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| Schizophrenia | 21346763 | CNVD |
| Nasopharyngeal cancer | 20548289 | CNVD |
| Nasopharyngeal cancer | 20551993 | CNVD |
| Type 2 diabetes | 21526130 | CNVD |
| Medulloblastoma | 21163964 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:31467400-31506600 | Weak transcription | Right Atrium | heart |
| 2 | chr6:31475800-31493600 | Weak transcription | Gastric | stomach |
| 3 | chr6:31478200-31497200 | Weak transcription | A549 | lung |
| 4 | chr6:31478400-31497200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr6:31478400-31497800 | Weak transcription | Primary B cells from cord blood | blood |
| 6 | chr6:31478400-31498200 | Weak transcription | Primary hematopoietic stem cells | blood |
| 7 | chr6:31478600-31498200 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
| 8 | chr6:31479200-31497400 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 9 | chr6:31479200-31497400 | Weak transcription | Primary T cells from cord blood | blood |
| 10 | chr6:31479200-31497600 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
| 11 | chr6:31479400-31495800 | Weak transcription | Thymus | Thymus |
| 12 | chr6:31479400-31496400 | Weak transcription | Fetal Thymus | thymus |
| 13 | chr6:31479400-31497000 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 14 | chr6:31479400-31497200 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
| 15 | chr6:31479400-31497400 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 16 | chr6:31479400-31497400 | Weak transcription | Spleen | Spleen |
| 17 | chr6:31479600-31497600 | Weak transcription | GM12878-XiMat | blood |
| 18 | chr6:31481800-31496800 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
| 19 | chr6:31484400-31487600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 20 | chr6:31484400-31497200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 21 | chr6:31485400-31497200 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 22 | chr6:31485400-31497200 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
