Variant report
Variant | nsv890070 |
---|---|
Chromosome Location | chr8:6861907-6904509 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:427)
- CpG islands (count:306)
- Chromatin interactive region (count:5)
- LncRNA region (count:4)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:6873754-6873804 | IMR90 | lung: | fetal |
2 | chr8:6873754-6873804 | IMR90 | lung: | fetal |
3 | chr8:6875661-6875711 | NH-A | brain: | n/a |
4 | chr8:6875661-6875711 | GM06990 | blood: | n/a |
5 | chr8:6876155-6876205 | HAEpiC | amniotic membrane: | n/a |
6 | chr8:6875661-6875711 | A549 | lung: | n/a |
7 | chr8:6876155-6876205 | AoSMC | blood vessel: | n/a |
8 | chr8:6873754-6873804 | ECC-1 | luminal epithelium: | n/a |
9 | chr8:6875661-6875711 | HRE | kidney: | n/a |
10 | chr8:6876781-6876831 | HUVEC | blood vessel: | n/a |
11 | chr8:6876781-6876831 | GM06990 | blood: | n/a |
12 | chr8:6876781-6876831 | GM12891 | blood: | n/a |
13 | chr8:6876781-6876831 | HPAEpiC | pulmonary alveolar: | n/a |
14 | chr8:6875661-6875711 | AG04450 | lung: | fetal |
15 | chr8:6876155-6876205 | HIPEpiC | eye: | n/a |
16 | chr8:6876695-6876745 | HPAEpiC | pulmonary alveolar: | n/a |
17 | chr8:6875661-6875711 | PANC-1 | pancreas: | n/a |
18 | chr8:6875661-6875711 | HEEpiC | esophagus: | n/a |
19 | chr8:6873754-6873804 | ovcar-3 | ovarian: | n/a |
20 | chr8:6875661-6875711 | HepG2 | liver: | n/a |
21 | chr8:6873754-6873804 | NH-A | brain: | n/a |
22 | chr8:6873754-6873804 | HCF | heart: | n/a |
23 | chr8:6875661-6875711 | HRCEpiC | kidney: | n/a |
24 | chr8:6873754-6873804 | HCPEpiC | choroid plexus: | n/a |
25 | chr8:6876695-6876745 | MCF-7 | breast: | n/a |
26 | chr8:6873754-6873804 | HCM | heart: | n/a |
27 | chr8:6876781-6876831 | GM12892 | blood: | n/a |
28 | chr8:6876695-6876745 | HCF | heart: | n/a |
29 | chr8:6876781-6876831 | T-47D | breast: | n/a |
30 | chr8:6875661-6875711 | MCF10A-Er-Src | breast: | n/a |
31 | chr8:6876695-6876745 | BE2_C | brain: | n/a |
32 | chr8:6876155-6876205 | AG04450 | lung: | fetal |
33 | chr8:6875661-6875711 | AG04449 | skin: | fetal |
34 | chr8:6873754-6873804 | U87 | brain: | n/a |
35 | chr8:6876695-6876745 | HAEpiC | amniotic membrane: | n/a |
36 | chr8:6876781-6876831 | NH-A | brain: | n/a |
37 | chr8:6875661-6875711 | GM19239 | blood: | n/a |
38 | chr8:6876155-6876205 | PFSK-1 | brain: | n/a |
39 | chr8:6873754-6873804 | MCF10A-Er-Src | breast: | n/a |
40 | chr8:6876155-6876205 | NH-A | brain: | n/a |
41 | chr8:6876695-6876745 | HRPEpiC | eye: | n/a |
42 | chr8:6876781-6876831 | MCF-7 | breast: | n/a |
43 | chr8:6876155-6876205 | SK-N-MC | brain: | n/a |
44 | chr8:6876695-6876745 | AG09309 | skin: | n/a |
45 | chr8:6876695-6876745 | GM12891 | blood: | n/a |
46 | chr8:6873754-6873804 | AoSMC | blood vessel: | n/a |
47 | chr8:6876781-6876831 | HNPCEpiC | eye: | n/a |
48 | chr8:6873754-6873804 | Hepatocyte | liver: | n/a |
49 | chr8:6873754-6873804 | RPTEC | kidney: | n/a |
50 | chr8:6873754-6873804 | K562 | blood: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:6899597..6901934-chr8:6903996..6906474,2 | K562 | blood: | |
2 | chr8:6876740..6878297-chr8:6880024..6881649,2 | K562 | blood: | |
3 | chr8:6876740..6878297-chr8:6880024..6881649,2 | K562 | blood: | |
4 | chr8:6899597..6901934-chr8:6903996..6906474,2 | K562 | blood: | |
5 | chr8:6786179..6786989-chr8:6884046..6884889,4 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DEFA5-1 | chr8:6896790-6896961 | NONHSAT124809 |
2 | lnc-DEFA3-2 | chr8:6886123-6886250 | NONHSAT124808 |
3 | lnc-DEFA3-2 | chr8:6886839-6887011 | NONHSAT124808 |
4 | lnc-DEFA5-1 | chr8:6896093-6896205 | NONHSAT124809 |
No data |
No data |
Variant related genes | Relation type |
---|---|
DEFA11P | TF binding region |
DEFA3 | TF binding region |
DEFA1B | TF binding region |
DEFT1P2 | TF binding region |
DEFA7P | TF binding region |
DEFA11P | CpG island |
DEFA3 | CpG island |
DEFA1B | CpG island |
DEFT1P2 | CpG island |
DEFA7P | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs567911083 | chr8:6863207-6863208 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs139341757 | chr8:6863323-6863324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs145473190 | chr8:6863340-6863341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs147682464 | chr8:6863429-6863430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs142420699 | chr8:6863517-6863518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs146451915 | chr8:6863917-6863918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs145696553 | chr8:6863932-6863933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs148911783 | chr8:6863950-6863951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs143585386 | chr8:6864060-6864061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs148039560 | chr8:6864154-6864155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs141710517 | chr8:6864164-6864165 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs144684520 | chr8:6864175-6864176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs138622480 | chr8:6864245-6864246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs141632538 | chr8:6864306-6864307 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs146191269 | chr8:6864478-6864479 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs137892785 | chr8:6864637-6864638 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs150122422 | chr8:6864647-6864648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs149435876 | chr8:6864840-6864841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs144825437 | chr8:6864888-6864889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs148561935 | chr8:6865047-6865048 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs145596489 | chr8:6865120-6865121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs147297504 | chr8:6865256-6865257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs138581228 | chr8:6865314-6865315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs140843128 | chr8:6865335-6865336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs144703825 | chr8:6865524-6865525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs151252229 | chr8:6865557-6865558 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs140430752 | chr8:6865615-6865616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs149958059 | chr8:6865752-6865753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs149302428 | chr8:6866265-6866266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs553609928 | chr8:6866440-6866441 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs539282443 | chr8:6866499-6866500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs577068056 | chr8:6866505-6866506 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs545754969 | chr8:6866572-6866573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs145050836 | chr8:6866610-6866611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs60260611 | chr8:6866702-6866703 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs57102416 | chr8:6866710-6866711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs58001249 | chr8:6866729-6866730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs60844122 | chr8:6866765-6866766 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs58068619 | chr8:6867006-6867007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs374930915 | chr8:6867186-6867187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs555219848 | chr8:6867213-6867214 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs140308814 | chr8:6867260-6867261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs143481431 | chr8:6867401-6867402 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs147987636 | chr8:6867459-6867460 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs564753033 | chr8:6867532-6867533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs533473462 | chr8:6867538-6867539 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs550487047 | chr8:6867540-6867541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs569931248 | chr8:6867564-6867565 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs549056805 | chr8:6867585-6867586 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs565847197 | chr8:6867610-6867611 | Weak transcription | 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 |
Autism | 21865298 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Crohn''s disease | 21701837 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:6863200-6866800 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
2 | chr8:6867000-6871800 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
3 | chr8:6871800-6873000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
4 | chr8:6872400-6872600 | Enhancers | Primary hematopoietic stem cells | blood |
5 | chr8:6873000-6873400 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
6 | chr8:6873400-6884600 | Enhancers | Primary neutrophils fromperipheralblood | blood |
7 | chr8:6879800-6881200 | Enhancers | Dnd41 | blood |
8 | chr8:6881200-6881400 | Bivalent Enhancer | ES-WA7 Cell Line | embryonic stem cell |
9 | chr8:6882000-6882400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr8:6882200-6882400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
11 | chr8:6883200-6883400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
12 | chr8:6883800-6884000 | Bivalent Enhancer | Fetal Intestine Large | intestine |
13 | chr8:6884200-6884800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
14 | chr8:6884400-6884600 | Bivalent Enhancer | Foreskin Keratinocyte Primary Cells skin02 | Skin |
15 | chr8:6884600-6885000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
16 | chr8:6884600-6885000 | Bivalent Enhancer | iPS-20b Cell Line | embryonic stem cell |
17 | chr8:6884600-6885000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
18 | chr8:6886800-6887000 | Bivalent Enhancer | H1 Derived Mesenchymal Stem Cells | ES cell derived |
19 | chr8:6892800-6901000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr8:6896200-6900400 | Enhancers | Dnd41 | blood |
21 | chr8:6898400-6901600 | Enhancers | Primary neutrophils fromperipheralblood | blood |
22 | chr8:6899000-6900000 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
23 | chr8:6899200-6900600 | Bivalent Enhancer | Primary hematopoietic stem cells short term culture | blood |
24 | chr8:6899200-6900800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
25 | chr8:6899600-6900400 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
26 | chr8:6899600-6900600 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
27 | chr8:6899600-6901000 | Enhancers | Spleen | Spleen |
28 | chr8:6900000-6900400 | Flanking Bivalent TSS/Enh | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
29 | chr8:6900400-6901000 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
30 | chr8:6901000-6901200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
31 | chr8:6901600-6903600 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
32 | chr8:6903600-6905200 | Enhancers | Primary neutrophils fromperipheralblood | blood |