Variant report
| Variant | esv3396754 |
|---|---|
| Chromosome Location | chr8:6790934-6798232 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:136)
- CpG islands (count:429)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:6795162-6795212 | HNPCEpiC | eye: | n/a |
| 2 | chr8:6796902-6796952 | HRPEpiC | eye: | n/a |
| 3 | chr8:6795162-6795212 | HNPCEpiC | eye: | n/a |
| 4 | chr8:6796902-6796952 | HRPEpiC | eye: | n/a |
| 5 | chr8:6795162-6795212 | MCF10A-Er-Src | breast: | n/a |
| 6 | chr8:6793506-6793556 | AG09319 | gingival: | n/a |
| 7 | chr8:6795162-6795212 | A549 | lung: | n/a |
| 8 | chr8:6793506-6793556 | HL-60 | blood: | n/a |
| 9 | chr8:6796618-6796668 | GM12891 | blood: | n/a |
| 10 | chr8:6795162-6795212 | GM12878 | blood: | n/a |
| 11 | chr8:6796902-6796952 | U87 | brain: | n/a |
| 12 | chr8:6794872-6794922 | LNCaP | prostate: | n/a |
| 13 | chr8:6796902-6796952 | CMK | blood: | n/a |
| 14 | chr8:6795980-6796030 | HCPEpiC | choroid plexus: | n/a |
| 15 | chr8:6796618-6796668 | RPTEC | kidney: | n/a |
| 16 | chr8:6794872-6794922 | HCM | heart: | n/a |
| 17 | chr8:6793506-6793556 | ProgFib | skin: | n/a |
| 18 | chr8:6796902-6796952 | HL-60 | blood: | n/a |
| 19 | chr8:6795162-6795212 | HCPEpiC | choroid plexus: | n/a |
| 20 | chr8:6794872-6794922 | H1-hESC | embryonic stem cell: | embryo |
| 21 | chr8:6796618-6796668 | A549 | lung: | n/a |
| 22 | chr8:6795980-6796030 | HPAEpiC | pulmonary alveolar: | n/a |
| 23 | chr8:6793506-6793556 | GM12878 | blood: | n/a |
| 24 | chr8:6796176-6796226 | SK-N-MC | brain: | n/a |
| 25 | chr8:6795980-6796030 | HMEC | breast: | n/a |
| 26 | chr8:6795980-6796030 | PFSK-1 | brain: | n/a |
| 27 | chr8:6795980-6796030 | SAEC | small airway: | n/a |
| 28 | chr8:6796902-6796952 | IMR90 | lung: | fetal |
| 29 | chr8:6796176-6796226 | HIPEpiC | eye: | n/a |
| 30 | chr8:6796902-6796952 | HIPEpiC | eye: | n/a |
| 31 | chr8:6796618-6796668 | HEK293 | kidney: | embryo |
| 32 | chr8:6795980-6796030 | HL-60 | blood: | n/a |
| 33 | chr8:6794872-6794922 | Jurkat | blood: | n/a |
| 34 | chr8:6796176-6796226 | NHBE | bronchial: | n/a |
| 35 | chr8:6793506-6793556 | PFSK-1 | brain: | n/a |
| 36 | chr8:6795162-6795212 | Hela-S3 | cervix: | n/a |
| 37 | chr8:6795980-6796030 | HepG2 | liver: | n/a |
| 38 | chr8:6795980-6796030 | LNCaP | prostate: | n/a |
| 39 | chr8:6796618-6796668 | AG09319 | gingival: | n/a |
| 40 | chr8:6795980-6796030 | Caco-2 | colon: | n/a |
| 41 | chr8:6796618-6796668 | HNPCEpiC | eye: | n/a |
| 42 | chr8:6795162-6795212 | SK-N-SH_RA | brain: | n/a |
| 43 | chr8:6794872-6794922 | NB4 | blood: | n/a |
| 44 | chr8:6795162-6795212 | GM19239 | blood: | n/a |
| 45 | chr8:6795162-6795212 | SK-N-MC | brain: | n/a |
| 46 | chr8:6795162-6795212 | ovcar-3 | ovarian: | n/a |
| 47 | chr8:6796618-6796668 | HCM | heart: | n/a |
| 48 | chr8:6796618-6796668 | ovcar-3 | ovarian: | n/a |
| 49 | chr8:6794872-6794922 | ProgFib | skin: | n/a |
| 50 | chr8:6796176-6796226 | GM19239 | blood: | n/a |
(count:2 , 50 per page) page:
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| Variant related genes | Relation type |
|---|---|
| DEFA4 | TF binding region |
| DEFA4 | CpG island |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs534408985 | chr8:6790957-6790958 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs59334047 | chr8:6791023-6791024 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs192887473 | chr8:6791031-6791032 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs564110729 | chr8:6791121-6791122 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs57619115 | chr8:6791122-6791123 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201902122 | chr8:6791189-6791190 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs199883045 | chr8:6791190-6791191 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs112811467 | chr8:6791193-6791194 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs563757325 | chr8:6791208-6791209 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs73521750 | chr8:6791220-6791221 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs185321758 | chr8:6791222-6791223 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs148063830 | chr8:6791240-6791241 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs574292581 | chr8:6791258-6791259 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs190218162 | chr8:6791260-6791261 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs546021266 | chr8:6791295-6791296 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs375233511 | chr8:6791305-6791306 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs141719685 | chr8:6791316-6791317 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs150562638 | chr8:6791358-6791359 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs192498114 | chr8:6791361-6791362 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs559791507 | chr8:6791472-6791473 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs373382135 | chr8:6791491-6791492 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs138699539 | chr8:6791537-6791538 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs2702863 | chr8:6791559-6791560 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs2702864 | chr8:6791576-6791577 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs562381936 | chr8:6791577-6791578 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs13262140 | chr8:6791601-6791602 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs548911692 | chr8:6791602-6791603 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs117842967 | chr8:6791605-6791606 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs528106330 | chr8:6791625-6791626 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs551037341 | chr8:6791645-6791646 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs368374502 | chr8:6791646-6791647 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs80157953 | chr8:6791649-6791650 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs537213000 | chr8:6791676-6791677 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs551165197 | chr8:6791691-6791692 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs567818564 | chr8:6791699-6791700 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs2738106 | chr8:6791715-6791716 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 37 | rs188212391 | chr8:6791720-6791721 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs73195968 | chr8:6791747-6791748 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs573259139 | chr8:6791760-6791761 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs180735423 | chr8:6791778-6791779 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs76545915 | chr8:6791795-6791796 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs185995383 | chr8:6791805-6791806 | Bivalent Enhancer Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs13261705 | chr8:6791840-6791841 | Bivalent Enhancer Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 44 | rs118073035 | chr8:6791845-6791846 | Bivalent Enhancer Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs573541048 | chr8:6791851-6791852 | Bivalent Enhancer Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs142774534 | chr8:6791857-6791858 | Bivalent Enhancer Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs559248855 | chr8:6791876-6791877 | Bivalent Enhancer Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs528047761 | chr8:6791891-6791892 | Bivalent Enhancer Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs147352135 | chr8:6791898-6791899 | Bivalent Enhancer Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs564788973 | chr8:6791911-6791912 | Bivalent Enhancer Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:136)
| Disease | PMID | Source |
|---|---|---|
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| abnormal development | 18461090 | CNVD |
| Crohn''s disease | 19220326 | CNVD |
| Psoriasis | 19220326 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Prostate cancer | 18515986 | CNVD |
| Chronic obstructive pulmonary disease | 20378733 | CNVD |
| Autism | 18414403 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Cervical cancer | 17311676 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Schizophrenia | 20877625 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Heart disease | 21282601 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 22429812 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| Breast cancer | 20940404 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| 8p-syndrome | 17576883 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21509527 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Autism | 22495311 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Seminomas | 18059402 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Cancer | 20164919 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Gastric cancer | 18160780 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Psoriasis | 20403174 | CNVD |
| Psoriasis | 20663923 | CNVD |
| Crohn''s disease | 16909382 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Crohn''s disease | 20877625 | CNVD |
| Inflammatory disorder | 20877625 | CNVD |
| Cardiac defect | 21933911 | CNVD |
| Psoriasis | 18059266 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Psoriasis | 20877625 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Colorectal cancer | 21128281 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Psoriasis | 18848619 | CNVD |
| Squamous cell cancer | 19047905 | CNVD |
| Colorectal cancer | 17229543 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Cognitive impairment | 21505072 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:6785800-6798800 | Enhancers | Primary neutrophils fromperipheralblood | blood |
| 2 | chr8:6789200-6791800 | Weak transcription | Fetal Thymus | thymus |
| 3 | chr8:6789400-6791600 | Weak transcription | Thymus | Thymus |
| 4 | chr8:6790600-6791400 | Enhancers | Dnd41 | blood |
| 5 | chr8:6791400-6793000 | Flanking Active TSS | Dnd41 | blood |
| 6 | chr8:6791600-6792800 | Enhancers | Thymus | Thymus |
| 7 | chr8:6791800-6792000 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
| 8 | chr8:6791800-6793200 | Enhancers | Fetal Thymus | thymus |
| 9 | chr8:6792000-6792200 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
| 10 | chr8:6792200-6792800 | Bivalent Enhancer | Primary hematopoietic stem cells | blood |
| 11 | chr8:6792200-6792800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 12 | chr8:6792400-6793800 | Enhancers | Fetal Brain Male | brain |
| 13 | chr8:6793000-6798000 | Enhancers | Dnd41 | blood |
| 14 | chr8:6793200-6793600 | Weak transcription | Fetal Thymus | thymus |
| 15 | chr8:6793600-6793800 | Enhancers | Fetal Thymus | thymus |
| 16 | chr8:6793800-6800200 | Weak transcription | Fetal Thymus | thymus |
| 17 | chr8:6794400-6794600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 18 | chr8:6794600-6829200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 19 | chr8:6795600-6796200 | Enhancers | GM12878-XiMat | blood |
| 20 | chr8:6796200-6796400 | Enhancers | Primary B cells from cord blood | blood |
| 21 | chr8:6796200-6797200 | Weak transcription | GM12878-XiMat | blood |
| 22 | chr8:6796400-6796600 | Bivalent Enhancer | Primary hematopoietic stem cells | blood |
| 23 | chr8:6796400-6797400 | Weak transcription | Primary B cells from cord blood | blood |
| 24 | chr8:6796600-6797600 | Bivalent Enhancer | Primary hematopoietic stem cells short term culture | blood |
| 25 | chr8:6796600-6797800 | Enhancers | Primary hematopoietic stem cells | blood |
| 26 | chr8:6796600-6797800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 27 | chr8:6796600-6797800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 28 | chr8:6796600-6797800 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
| 29 | chr8:6796800-6797000 | Enhancers | Spleen | Spleen |
| 30 | chr8:6796800-6798000 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
| 31 | chr8:6797200-6797400 | Enhancers | GM12878-XiMat | blood |
| 32 | chr8:6797400-6797800 | Enhancers | Primary B cells from cord blood | blood |
| 33 | chr8:6798000-6799600 | Weak transcription | Dnd41 | blood |
