Variant report
Variant | esv2756808 |
---|---|
Chromosome Location | chr8:6812249-6827165 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:268)
- CpG islands (count:62)
- Chromatin interactive region (count:3)
- LncRNA region (count:6)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:6826392-6826442 | SK-N-MC | brain: | n/a |
2 | chr8:6826392-6826442 | SK-N-MC | brain: | n/a |
3 | chr8:6826392-6826442 | Hepatocyte | liver: | n/a |
4 | chr8:6826392-6826442 | Jurkat | blood: | n/a |
5 | chr8:6826392-6826442 | H1-hESC | embryonic stem cell: | embryo |
6 | chr8:6826392-6826442 | HAEpiC | amniotic membrane: | n/a |
7 | chr8:6826392-6826442 | PFSK-1 | brain: | n/a |
8 | chr8:6826392-6826442 | AG10803 | skin: | n/a |
9 | chr8:6826392-6826442 | PrEC | prostate: | n/a |
10 | chr8:6826392-6826442 | GM06990 | blood: | n/a |
11 | chr8:6826392-6826442 | SKMC | muscle: | n/a |
12 | chr8:6826392-6826442 | MCF10A-Er-Src | breast: | n/a |
13 | chr8:6826392-6826442 | SK-N-SH_RA | brain: | n/a |
14 | chr8:6826392-6826442 | NT2-D1 | testis: | n/a |
15 | chr8:6826392-6826442 | NH-A | brain: | n/a |
16 | chr8:6826392-6826442 | HL-60 | blood: | n/a |
17 | chr8:6826392-6826442 | HRCEpiC | kidney: | n/a |
18 | chr8:6826392-6826442 | AG09319 | gingival: | n/a |
19 | chr8:6826392-6826442 | HRE | kidney: | n/a |
20 | chr8:6826392-6826442 | GM12891 | blood: | n/a |
21 | chr8:6826392-6826442 | GM19239 | blood: | n/a |
22 | chr8:6826392-6826442 | HCM | heart: | n/a |
23 | chr8:6826392-6826442 | HPAEpiC | pulmonary alveolar: | n/a |
24 | chr8:6826392-6826442 | SAEC | small airway: | n/a |
25 | chr8:6826392-6826442 | GM12878 | blood: | n/a |
26 | chr8:6826392-6826442 | NHBE | bronchial: | n/a |
27 | chr8:6826392-6826442 | CMK | blood: | n/a |
28 | chr8:6826392-6826442 | Hela-S3 | cervix: | n/a |
29 | chr8:6826392-6826442 | K562 | blood: | n/a |
30 | chr8:6826392-6826442 | MCF-7 | breast: | n/a |
31 | chr8:6826392-6826442 | BE2_C | brain: | n/a |
32 | chr8:6826392-6826442 | HCT-116 | colon: | n/a |
33 | chr8:6826392-6826442 | HRPEpiC | eye: | n/a |
34 | chr8:6826392-6826442 | HEEpiC | esophagus: | n/a |
35 | chr8:6826392-6826442 | IMR90 | lung: | fetal |
36 | chr8:6826392-6826442 | AG09309 | skin: | n/a |
37 | chr8:6826392-6826442 | ovcar-3 | ovarian: | n/a |
38 | chr8:6826392-6826442 | HCF | heart: | n/a |
39 | chr8:6826392-6826442 | AG04450 | lung: | fetal |
40 | chr8:6826392-6826442 | HEK293 | kidney: | embryo |
41 | chr8:6826392-6826442 | BJ | skin: | n/a |
42 | chr8:6826392-6826442 | RPTEC | kidney: | n/a |
43 | chr8:6826392-6826442 | T-47D | breast: | n/a |
44 | chr8:6826392-6826442 | ProgFib | skin: | n/a |
45 | chr8:6826392-6826442 | HepG2 | liver: | n/a |
46 | chr8:6826392-6826442 | U87 | brain: | n/a |
47 | chr8:6826392-6826442 | GM12892 | blood: | n/a |
48 | chr8:6826392-6826442 | Caco-2 | colon: | n/a |
49 | chr8:6826392-6826442 | HUVEC | blood vessel: | n/a |
50 | chr8:6826392-6826442 | HIPEpiC | eye: | n/a |
(count:3 , 50 per page) page:
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(count:6 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DEFA1-1 | chr8:6825663-6825775 | NONHSAT124803 |
2 | lnc-DEFA1-2 | chr8:6816811-6816923 | NONHSAT124801 |
3 | lnc-DEFA1-1 | chr8:6826461-6826635 | NONHSAT124803 |
4 | lnc-DEFA1-2 | chr8:6817512-6817683 | NONHSAT124801 |
5 | lnc-DEFA1-1 | chr8:6825663-6825769 | NONHSAT124802 |
6 | lnc-DEFA1-1 | chr8:6826452-6826635 | NONHSAT124802 |
No data |
No data |
Variant related genes | Relation type |
---|---|
DEFA9P | TF binding region |
DEFA8P | TF binding region |
DEFA10P | TF binding region |
DEFA9P | CpG island |
DEFA8P | CpG island |
DEFA10P | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs2472562 | chr8:6812249-6812250 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs546825061 | chr8:6812276-6812277 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs2741654 | chr8:6812283-6812284 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs569034871 | chr8:6812296-6812297 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs538026791 | chr8:6812339-6812340 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs71535993 | chr8:6812370-6812371 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs62488522 | chr8:6812378-6812379 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs77020315 | chr8:6812380-6812381 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs76248231 | chr8:6812400-6812401 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs79597043 | chr8:6812401-6812402 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs146947762 | chr8:6812402-6812403 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs56670027 | chr8:6812406-6812407 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs180958539 | chr8:6812408-6812409 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs2741653 | chr8:6812421-6812422 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs535592182 | chr8:6812448-6812449 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs185028763 | chr8:6812449-6812450 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs370742807 | chr8:6812451-6812452 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs117269009 | chr8:6812460-6812461 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs145737344 | chr8:6812463-6812464 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs112951116 | chr8:6812464-6812465 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs148957637 | chr8:6812468-6812469 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs541998317 | chr8:6812499-6812500 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs145633580 | chr8:6812516-6812517 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs189764461 | chr8:6812537-6812538 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs138267227 | chr8:6812547-6812548 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs141095218 | chr8:6812566-6812567 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs181344527 | chr8:6812624-6812625 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs2702851 | chr8:6812626-6812627 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs371032614 | chr8:6812628-6812629 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs186772318 | chr8:6812640-6812641 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs59878581 | chr8:6812680-6812681 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs371189436 | chr8:6812752-6812753 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs2615771 | chr8:6812759-6812760 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs568260571 | chr8:6812768-6812769 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs533816626 | chr8:6812773-6812774 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs191670862 | chr8:6812780-6812781 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs553228524 | chr8:6812781-6812782 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs576722742 | chr8:6812784-6812785 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs183448463 | chr8:6812796-6812797 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs540631990 | chr8:6812807-6812808 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs148277444 | chr8:6812835-6812836 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs186347071 | chr8:6812855-6812856 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs541541834 | chr8:6812868-6812869 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs558167241 | chr8:6812873-6812874 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs572604819 | chr8:6812878-6812879 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs199869609 | chr8:6812887-6812888 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs541325516 | chr8:6812923-6812924 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs564794186 | chr8:6812945-6812946 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs533713843 | chr8:6812956-6812957 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs550175108 | chr8:6812971-6812972 | Weak transcription Enhancers | 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 |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Autism | 21865298 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:6794600-6829200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr8:6804400-6812400 | Enhancers | Primary neutrophils fromperipheralblood | blood |
3 | chr8:6806400-6813000 | Enhancers | Fetal Thymus | thymus |
4 | chr8:6811000-6818000 | Enhancers | Dnd41 | blood |
5 | chr8:6812200-6813000 | Weak transcription | Thymus | Thymus |
6 | chr8:6812400-6814400 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
7 | chr8:6813000-6813800 | Enhancers | Thymus | Thymus |
8 | chr8:6813000-6814000 | Weak transcription | Fetal Thymus | thymus |
9 | chr8:6813800-6815000 | Weak transcription | Thymus | Thymus |
10 | chr8:6814000-6814200 | Enhancers | Fetal Thymus | thymus |
11 | chr8:6814200-6814600 | Weak transcription | Fetal Thymus | thymus |
12 | chr8:6814400-6816200 | Enhancers | Primary neutrophils fromperipheralblood | blood |
13 | chr8:6814600-6817000 | Enhancers | Fetal Thymus | thymus |
14 | chr8:6815000-6815800 | Enhancers | Thymus | Thymus |
15 | chr8:6816200-6817400 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
16 | chr8:6817000-6817600 | Weak transcription | Fetal Thymus | thymus |
17 | chr8:6817400-6818800 | Enhancers | Primary neutrophils fromperipheralblood | blood |
18 | chr8:6817600-6817800 | Enhancers | Fetal Thymus | thymus |
19 | chr8:6817600-6817800 | Flanking Active TSS | Lung | lung |
20 | chr8:6817800-6820600 | Weak transcription | Fetal Thymus | thymus |
21 | chr8:6818000-6820400 | Weak transcription | Dnd41 | blood |
22 | chr8:6818800-6822800 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
23 | chr8:6820400-6821800 | Enhancers | Dnd41 | blood |
24 | chr8:6820600-6821600 | Enhancers | Fetal Thymus | thymus |
25 | chr8:6821400-6821800 | Enhancers | Thymus | Thymus |
26 | chr8:6822800-6830000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
27 | chr8:6824000-6824800 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
28 | chr8:6824200-6824600 | Enhancers | H1 Cell Line | embryonic stem cell |
29 | chr8:6824400-6824800 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
30 | chr8:6824600-6824800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
31 | chr8:6824600-6828200 | Weak transcription | H1 Cell Line | embryonic stem cell |
32 | chr8:6824800-6829200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
33 | chr8:6826400-6826600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
34 | chr8:6826400-6826800 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
35 | chr8:6826400-6826800 | Enhancers | Primary T cells fromperipheralblood | blood |
36 | chr8:6826400-6826800 | Bivalent Enhancer | Primary Natural Killer cells fromperipheralblood | blood |
37 | chr8:6826400-6826800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
38 | chr8:6826400-6827000 | Bivalent Enhancer | Primary B cells from peripheral blood | blood |
39 | chr8:6826600-6826800 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |