Variant report
| Variant | nsv884129 |
|---|---|
| Chromosome Location | chr6:30981427-30988506 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:3 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000124529 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs146132947 | chr6:30981487-30981488 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs539480160 | chr6:30981488-30981489 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs544164088 | chr6:30981534-30981535 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs368365955 | chr6:30981556-30981557 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs577737524 | chr6:30981585-30981586 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs545074197 | chr6:30981601-30981602 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs529633298 | chr6:30981624-30981625 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs560200614 | chr6:30981629-30981630 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs545549915 | chr6:30981653-30981654 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs557509292 | chr6:30981654-30981655 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs12530384 | chr6:30981655-30981656 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs540165831 | chr6:30981715-30981716 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs531486629 | chr6:30981736-30981737 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs1634724 | chr6:30981753-30981754 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs573567323 | chr6:30981755-30981756 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs181271589 | chr6:30981769-30981770 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs73727153 | chr6:30981813-30981814 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs562659517 | chr6:30981814-30981815 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs201327462 | chr6:30981815-30981816 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs367806293 | chr6:30981871-30981872 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs536375685 | chr6:30981894-30981895 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs555132013 | chr6:30981899-30981900 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs542243549 | chr6:30981960-30981961 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs546273377 | chr6:30981994-30981995 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs537713677 | chr6:30981996-30981997 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs386491819 | chr6:30982008-30982009 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs190838019 | chr6:30982040-30982041 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs573600572 | chr6:30982084-30982085 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs541207895 | chr6:30982086-30982087 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs10947116 | chr6:30982092-30982093 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs529523929 | chr6:30982125-30982126 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs568791239 | chr6:30982139-30982140 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs560214375 | chr6:30982144-30982145 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs529564829 | chr6:30982160-30982161 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs561101708 | chr6:30982164-30982165 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs531422824 | chr6:30982172-30982173 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs550904005 | chr6:30982196-30982197 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs148923896 | chr6:30982205-30982206 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs564829840 | chr6:30982206-30982207 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs7755802 | chr6:30982209-30982210 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 41 | rs114421090 | chr6:30982260-30982261 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs190871422 | chr6:30982292-30982293 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs79904568 | chr6:30982385-30982386 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs530177914 | chr6:30982396-30982397 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs548417029 | chr6:30982418-30982419 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs183176654 | chr6:30982522-30982523 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs9394026 | chr6:30982544-30982545 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 48 | rs28360978 | chr6:30982553-30982554 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 49 | rs571155816 | chr6:30982569-30982570 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs115650014 | chr6:30982660-30982661 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:120)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| 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 |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Cancer | 20164919 | CNVD |
| Melanoma | 18172304 | 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 |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:30972600-30997600 | Weak transcription | Right Atrium | heart |
| 2 | chr6:30984000-30985000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr6:30986000-30986200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 4 | chr6:30987800-30988400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 5 | chr6:30988000-30988200 | Flanking Bivalent TSS/Enh | HUES48 Cell Line | embryonic stem cell |
| 6 | chr6:30988000-30988400 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr6:30988200-30988400 | Flanking Active TSS | H1 Cell Line | embryonic stem cell |
| 8 | chr6:30988200-30988400 | Bivalent/Poised TSS | iPS-15b Cell Line | embryonic stem cell |
| 9 | chr6:30988200-30988400 | Bivalent/Poised TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 10 | chr6:30988200-30988600 | Active TSS | HUES48 Cell Line | embryonic stem cell |
| 11 | chr6:30988200-30988600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 12 | chr6:30988200-30988600 | Active TSS | Breast Myoepithelial Primary Cells | Breast |
| 13 | chr6:30988400-30988800 | Active TSS | ES-WA7 Cell Line | embryonic stem cell |
| 14 | chr6:30988400-30988800 | Active TSS | H1 Cell Line | embryonic stem cell |
| 15 | chr6:30988400-30988800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 16 | chr6:30988400-30988800 | Flanking Bivalent TSS/Enh | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 17 | chr6:30988400-30989000 | Active TSS | iPS-15b Cell Line | embryonic stem cell |
