Variant report
| Variant | esv11261 |
|---|---|
| Chromosome Location | chr6:30982075-30989830 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:30971805..30974320-chr6:30984460..30987060,2 | K562 | blood: | |
| 2 | chr6:30975520..30978451-chr6:30989094..30991003,2 | K562 | blood: | |
| 3 | chr6:30989389..30991180-chr6:30994181..30996114,2 | K562 | blood: | |
| 4 | chr6:26026654..26028309-chr6:30981430..30984025,2 | K562 | blood: | |
| 5 | chr6:30781714..30783791-chr6:30982862..30984438,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000124529 | chromatin interactions |
| ENSG00000261272 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs573600572 | chr6:30982084-30982085 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs541207895 | chr6:30982086-30982087 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs10947116 | chr6:30982092-30982093 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs529523929 | chr6:30982125-30982126 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs568791239 | chr6:30982139-30982140 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs560214375 | chr6:30982144-30982145 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs529564829 | chr6:30982160-30982161 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs561101708 | chr6:30982164-30982165 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs531422824 | chr6:30982172-30982173 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs550904005 | chr6:30982196-30982197 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs148923896 | chr6:30982205-30982206 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs564829840 | chr6:30982206-30982207 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs7755802 | chr6:30982209-30982210 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 14 | rs114421090 | chr6:30982260-30982261 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs190871422 | chr6:30982292-30982293 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs79904568 | chr6:30982385-30982386 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs530177914 | chr6:30982396-30982397 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs548417029 | chr6:30982418-30982419 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs183176654 | chr6:30982522-30982523 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs9394026 | chr6:30982544-30982545 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 21 | rs28360978 | chr6:30982553-30982554 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs571155816 | chr6:30982569-30982570 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs115650014 | chr6:30982660-30982661 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs73727154 | chr6:30982682-30982683 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs4713410 | chr6:30982701-30982702 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 26 | rs569454935 | chr6:30982722-30982723 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs544482873 | chr6:30982723-30982724 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs73395836 | chr6:30982839-30982840 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs28360979 | chr6:30982858-30982859 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs564766014 | chr6:30982867-30982868 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs577051431 | chr6:30982868-30982869 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs540986737 | chr6:30982869-30982870 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs12211072 | chr6:30982948-30982949 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 34 | rs373329065 | chr6:30982950-30982951 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs564586510 | chr6:30982998-30982999 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs7760786 | chr6:30983013-30983014 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 37 | rs528567865 | chr6:30983080-30983081 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs563762002 | chr6:30983106-30983107 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs12197572 | chr6:30983108-30983109 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs531071190 | chr6:30983118-30983119 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs143729362 | chr6:30983214-30983215 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs9391701 | chr6:30983263-30983264 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 43 | rs7761278 | chr6:30983296-30983297 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 44 | rs529600544 | chr6:30983314-30983315 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs386698823 | chr6:30983325-30983326 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs1619376 | chr6:30983326-30983327 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 47 | rs28360980 | chr6:30983348-30983349 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 48 | rs114576318 | chr6:30983362-30983363 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs9262468 | chr6:30983417-30983418 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 50 | rs536784700 | chr6:30983478-30983479 | 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 |
| 18 | chr6:30988600-30988800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 19 | chr6:30988600-30988800 | Bivalent Enhancer | Esophagus | oesophagus |
| 20 | chr6:30988600-30989000 | Active TSS | iPS DF 19.11 Cell Line | embryonic stem cell |
| 21 | chr6:30988800-30989000 | Bivalent Enhancer | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 22 | chr6:30989000-30993400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
