Variant report
Variant | nsv429846 |
---|---|
Chromosome Location | chr8:6788102-6799565 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:150)
- CpG islands (count:427)
- 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 | chr8:6796618-6796668 | NB4 | blood: | n/a |
2 | chr8:6794872-6794922 | AG04450 | lung: | fetal |
3 | chr8:6796618-6796668 | CMK | blood: | n/a |
4 | chr8:6795162-6795212 | SKMC | muscle: | n/a |
5 | chr8:6795162-6795212 | AG10803 | skin: | n/a |
6 | chr8:6794872-6794922 | HRCEpiC | kidney: | n/a |
7 | chr8:6794872-6794922 | H1-hESC | embryonic stem cell: | embryo |
8 | chr8:6793506-6793556 | AG10803 | skin: | n/a |
9 | chr8:6796176-6796226 | Hela-S3 | cervix: | n/a |
10 | chr8:6796902-6796952 | HNPCEpiC | eye: | n/a |
11 | chr8:6795162-6795212 | HIPEpiC | eye: | n/a |
12 | chr8:6795980-6796030 | HRCEpiC | kidney: | n/a |
13 | chr8:6795162-6795212 | HRCEpiC | kidney: | n/a |
14 | chr8:6796176-6796226 | HNPCEpiC | eye: | n/a |
15 | chr8:6796902-6796952 | AG09319 | gingival: | n/a |
16 | chr8:6795162-6795212 | GM12891 | blood: | n/a |
17 | chr8:6794872-6794922 | MCF10A-Er-Src | breast: | n/a |
18 | chr8:6795980-6796030 | HCPEpiC | choroid plexus: | n/a |
19 | chr8:6795162-6795212 | LNCaP | prostate: | n/a |
20 | chr8:6795980-6796030 | IMR90 | lung: | fetal |
21 | chr8:6796902-6796952 | LNCaP | prostate: | n/a |
22 | chr8:6796618-6796668 | HL-60 | blood: | n/a |
23 | chr8:6795162-6795212 | HNPCEpiC | eye: | n/a |
24 | chr8:6795980-6796030 | AoSMC | blood vessel: | n/a |
25 | chr8:6795980-6796030 | NH-A | brain: | n/a |
26 | chr8:6796618-6796668 | AG04449 | skin: | fetal |
27 | chr8:6796902-6796952 | MCF10A-Er-Src | breast: | n/a |
28 | chr8:6793506-6793556 | Caco-2 | colon: | n/a |
29 | chr8:6796618-6796668 | IMR90 | lung: | fetal |
30 | chr8:6795980-6796030 | ovcar-3 | ovarian: | n/a |
31 | chr8:6793506-6793556 | A549 | lung: | n/a |
32 | chr8:6793506-6793556 | IMR90 | lung: | fetal |
33 | chr8:6793506-6793556 | PFSK-1 | brain: | n/a |
34 | chr8:6796902-6796952 | PrEC | prostate: | n/a |
35 | chr8:6795162-6795212 | HEK293 | kidney: | embryo |
36 | chr8:6793506-6793556 | ECC-1 | luminal epithelium: | n/a |
37 | chr8:6796176-6796226 | NH-A | brain: | n/a |
38 | chr8:6796176-6796226 | HRCEpiC | kidney: | n/a |
39 | chr8:6796618-6796668 | BE2_C | brain: | n/a |
40 | chr8:6796902-6796952 | NB4 | blood: | n/a |
41 | chr8:6796618-6796668 | T-47D | breast: | n/a |
42 | chr8:6793506-6793556 | ProgFib | skin: | n/a |
43 | chr8:6796902-6796952 | H1-hESC | embryonic stem cell: | embryo |
44 | chr8:6793506-6793556 | HCPEpiC | choroid plexus: | n/a |
45 | chr8:6795162-6795212 | HRE | kidney: | n/a |
46 | chr8:6796176-6796226 | RPTEC | kidney: | n/a |
47 | chr8:6796618-6796668 | NHBE | bronchial: | n/a |
48 | chr8:6795980-6796030 | CMK | blood: | n/a |
49 | chr8:6796618-6796668 | Hepatocyte | liver: | n/a |
50 | chr8:6795162-6795212 | NT2-D1 | testis: | n/a |
(count:2 , 50 per page) page:
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
DEFA6 | TF binding region |
DEFA4 | TF binding region |
DEFA6 | CpG island |
DEFA4 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs2003880 | chr8:6788102-6788103 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs2702854 | chr8:6788124-6788125 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs2981400 | chr8:6788137-6788138 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
4 | rs539344611 | chr8:6788144-6788145 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
5 | rs559332878 | chr8:6788152-6788153 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
6 | rs575693967 | chr8:6788160-6788161 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
7 | rs114596153 | chr8:6788171-6788172 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
8 | rs6990786 | chr8:6788172-6788173 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs574889444 | chr8:6788230-6788231 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
10 | rs181224843 | chr8:6788231-6788232 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
11 | rs559123641 | chr8:6788257-6788258 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
12 | rs572746513 | chr8:6788269-6788270 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
13 | rs544896131 | chr8:6788270-6788271 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
14 | rs564872069 | chr8:6788274-6788275 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
15 | rs530405652 | chr8:6788290-6788291 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
16 | rs550572956 | chr8:6788333-6788334 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
17 | rs7822027 | chr8:6788335-6788336 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs529806580 | chr8:6788347-6788348 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs142728650 | chr8:6788352-6788353 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
20 | rs567060606 | chr8:6788359-6788360 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs145011688 | chr8:6788361-6788362 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs552880994 | chr8:6788374-6788375 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs2738112 | chr8:6788394-6788395 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs537814308 | chr8:6788415-6788416 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs2741684 | chr8:6788418-6788419 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs368018426 | chr8:6788436-6788437 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs138728019 | chr8:6788445-6788446 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs537635426 | chr8:6788468-6788469 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs28658159 | chr8:6788471-6788472 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs2741683 | chr8:6788480-6788481 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
31 | rs527852014 | chr8:6788510-6788511 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs572688807 | chr8:6788512-6788513 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs533598061 | chr8:6788515-6788516 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs558404607 | chr8:6788530-6788531 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs547584784 | chr8:6788545-6788546 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs575511579 | chr8:6788556-6788557 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs369830028 | chr8:6788609-6788610 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs560943229 | chr8:6788618-6788619 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs529703629 | chr8:6788621-6788622 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs2738111 | chr8:6788644-6788645 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs560315282 | chr8:6788722-6788723 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs532724898 | chr8:6788732-6788733 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs201806543 | chr8:6788768-6788769 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs141894697 | chr8:6788822-6788823 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs569528457 | chr8:6788862-6788863 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs532032996 | chr8:6788870-6788871 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs536740816 | chr8:6788871-6788872 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs556630226 | chr8:6788894-6788895 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs150770472 | chr8:6788932-6788933 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs138049339 | chr8:6789010-6789011 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
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 | chr8:6785600-6789800 | Flanking Active TSS | Dnd41 | blood |
2 | chr8:6785800-6798800 | Enhancers | Primary neutrophils fromperipheralblood | blood |
3 | chr8:6786000-6789200 | Enhancers | Fetal Thymus | thymus |
4 | chr8:6786000-6789400 | Enhancers | Thymus | Thymus |
5 | chr8:6789200-6791800 | Weak transcription | Fetal Thymus | thymus |
6 | chr8:6789400-6791600 | Weak transcription | Thymus | Thymus |
7 | chr8:6789800-6790200 | Enhancers | Dnd41 | blood |
8 | chr8:6790200-6790600 | Flanking Active TSS | Dnd41 | blood |
9 | chr8:6790600-6791400 | Enhancers | Dnd41 | blood |
10 | chr8:6791400-6793000 | Flanking Active TSS | Dnd41 | blood |
11 | chr8:6791600-6792800 | Enhancers | Thymus | Thymus |
12 | chr8:6791800-6792000 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
13 | chr8:6791800-6793200 | Enhancers | Fetal Thymus | thymus |
14 | chr8:6792000-6792200 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
15 | chr8:6792200-6792800 | Bivalent Enhancer | Primary hematopoietic stem cells | blood |
16 | chr8:6792200-6792800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
17 | chr8:6792400-6793800 | Enhancers | Fetal Brain Male | brain |
18 | chr8:6793000-6798000 | Enhancers | Dnd41 | blood |
19 | chr8:6793200-6793600 | Weak transcription | Fetal Thymus | thymus |
20 | chr8:6793600-6793800 | Enhancers | Fetal Thymus | thymus |
21 | chr8:6793800-6800200 | Weak transcription | Fetal Thymus | thymus |
22 | chr8:6794400-6794600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
23 | chr8:6794600-6829200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
24 | chr8:6795600-6796200 | Enhancers | GM12878-XiMat | blood |
25 | chr8:6796200-6796400 | Enhancers | Primary B cells from cord blood | blood |
26 | chr8:6796200-6797200 | Weak transcription | GM12878-XiMat | blood |
27 | chr8:6796400-6796600 | Bivalent Enhancer | Primary hematopoietic stem cells | blood |
28 | chr8:6796400-6797400 | Weak transcription | Primary B cells from cord blood | blood |
29 | chr8:6796600-6797600 | Bivalent Enhancer | Primary hematopoietic stem cells short term culture | blood |
30 | chr8:6796600-6797800 | Enhancers | Primary hematopoietic stem cells | blood |
31 | chr8:6796600-6797800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
32 | chr8:6796600-6797800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
33 | chr8:6796600-6797800 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
34 | chr8:6796800-6797000 | Enhancers | Spleen | Spleen |
35 | chr8:6796800-6798000 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
36 | chr8:6797200-6797400 | Enhancers | GM12878-XiMat | blood |
37 | chr8:6797400-6797800 | Enhancers | Primary B cells from cord blood | blood |
38 | chr8:6798000-6799600 | Weak transcription | Dnd41 | blood |