Variant report
| Variant | esv3362522 |
|---|---|
| Chromosome Location | chr6:34049770-34049888 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:34048142..34050744-chr6:34061539..34063734,2 | K562 | blood: | |
| 2 | chr6:33807979..33810907-chr6:34049317..34052125,2 | MCF-7 | breast: | |
| 3 | chr6:34042273..34043918-chr6:34048694..34051267,2 | K562 | blood: | |
| 4 | chr6:34044767..34048120-chr6:34049441..34052801,3 | K562 | blood: | |
| 5 | chr6:34046290..34048396-chr6:34049554..34051371,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs570199297 | chr6:34049789-34049790 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs530141322 | chr6:34049801-34049802 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs116372808 | chr6:34049812-34049813 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs569734435 | chr6:34049819-34049820 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs566651798 | chr6:34049823-34049824 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs71542486 | chr6:34049831-34049832 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs7753387 | chr6:34049842-34049843 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs7753682 | chr6:34049861-34049862 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs374869069 | chr6:34049872-34049873 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs369263665 | chr6:34049873-34049874 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:105)
| 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 |
| 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Hepatocellular carcinoma | 16750200 | 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 |
| 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 |
| 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 |
| 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 |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:34025000-34101800 | Weak transcription | Right Atrium | heart |
| 2 | chr6:34027400-34066400 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 3 | chr6:34044800-34052200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 4 | chr6:34045200-34050800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 5 | chr6:34045800-34065000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 6 | chr6:34046600-34050200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr6:34046800-34050400 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 8 | chr6:34047000-34050600 | Weak transcription | Fetal Brain Female | brain |
| 9 | chr6:34047200-34050200 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 10 | chr6:34047200-34050200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 11 | chr6:34048800-34053000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 12 | chr6:34049400-34050200 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
| 13 | chr6:34049400-34052400 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
