Variant report
Variant | nsv465438 |
---|---|
Chromosome Location | chr8:6879803-6921404 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:625)
- CpG islands (count:366)
- 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 | chr8:6915107-6915157 | NB4 | blood: | n/a |
2 | chr8:6913030-6913080 | MCF-7 | breast: | n/a |
3 | chr8:6915107-6915157 | HAEpiC | amniotic membrane: | n/a |
4 | chr8:6915107-6915157 | HCT-116 | colon: | n/a |
5 | chr8:6913441-6913491 | Hela-S3 | cervix: | n/a |
6 | chr8:6913441-6913491 | NT2-D1 | testis: | n/a |
7 | chr8:6914420-6914470 | A549 | lung: | n/a |
8 | chr8:6913030-6913080 | HUVEC | blood vessel: | n/a |
9 | chr8:6914420-6914470 | NB4 | blood: | n/a |
10 | chr8:6914549-6914599 | PrEC | prostate: | n/a |
11 | chr8:6915107-6915157 | AG09319 | gingival: | n/a |
12 | chr8:6914838-6914888 | HAEpiC | amniotic membrane: | n/a |
13 | chr8:6913030-6913080 | HAEpiC | amniotic membrane: | n/a |
14 | chr8:6914420-6914470 | IMR90 | lung: | fetal |
15 | chr8:6914549-6914599 | ovcar-3 | ovarian: | n/a |
16 | chr8:6913441-6913491 | HRCEpiC | kidney: | n/a |
17 | chr8:6914420-6914470 | ProgFib | skin: | n/a |
18 | chr8:6914420-6914470 | HCF | heart: | n/a |
19 | chr8:6914549-6914599 | BE2_C | brain: | n/a |
20 | chr8:6914420-6914470 | HNPCEpiC | eye: | n/a |
21 | chr8:6914549-6914599 | IMR90 | lung: | fetal |
22 | chr8:6913441-6913491 | HCF | heart: | n/a |
23 | chr8:6913441-6913491 | U87 | brain: | n/a |
24 | chr8:6913030-6913080 | Hela-S3 | cervix: | n/a |
25 | chr8:6915107-6915157 | U87 | brain: | n/a |
26 | chr8:6915107-6915157 | AG10803 | skin: | n/a |
27 | chr8:6914549-6914599 | HCF | heart: | n/a |
28 | chr8:6915107-6915157 | GM19239 | blood: | n/a |
29 | chr8:6915107-6915157 | LNCaP | prostate: | n/a |
30 | chr8:6914549-6914599 | HMEC | breast: | n/a |
31 | chr8:6914420-6914470 | NH-A | brain: | n/a |
32 | chr8:6914549-6914599 | HPAEpiC | pulmonary alveolar: | n/a |
33 | chr8:6914838-6914888 | GM12891 | blood: | n/a |
34 | chr8:6914838-6914888 | MCF10A-Er-Src | breast: | n/a |
35 | chr8:6914549-6914599 | AG09309 | skin: | n/a |
36 | chr8:6914549-6914599 | AG09319 | gingival: | n/a |
37 | chr8:6914549-6914599 | GM12878 | blood: | n/a |
38 | chr8:6913441-6913491 | MCF-7 | breast: | n/a |
39 | chr8:6914420-6914470 | HRPEpiC | eye: | n/a |
40 | chr8:6915107-6915157 | PFSK-1 | brain: | n/a |
41 | chr8:6913030-6913080 | AG10803 | skin: | n/a |
42 | chr8:6914549-6914599 | SAEC | small airway: | n/a |
43 | chr8:6914838-6914888 | PrEC | prostate: | n/a |
44 | chr8:6913441-6913491 | HCPEpiC | choroid plexus: | n/a |
45 | chr8:6914420-6914470 | Hela-S3 | cervix: | n/a |
46 | chr8:6915107-6915157 | CMK | blood: | n/a |
47 | chr8:6914838-6914888 | NT2-D1 | testis: | n/a |
48 | chr8:6913441-6913491 | HMEC | breast: | n/a |
49 | chr8:6914549-6914599 | LNCaP | prostate: | n/a |
50 | chr8:6913030-6913080 | HCM | heart: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:6909298..6911285-chr8:6912423..6915127,2 | MCF-7 | breast: | |
2 | chr8:6876740..6878297-chr8:6880024..6881649,2 | K562 | blood: | |
3 | chr8:6786179..6786989-chr8:6884046..6884889,4 | MCF-7 | breast: | |
4 | chr8:6899597..6901934-chr8:6903996..6906474,2 | K562 | blood: | |
5 | chr8:6899597..6901934-chr8:6903996..6906474,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DEFA3-2 | chr8:6886123-6886250 | NONHSAT124808 |
2 | lnc-DEFA5-1 | chr8:6896790-6896961 | NONHSAT124809 |
3 | lnc-DEFA5-1 | chr8:6896093-6896205 | NONHSAT124809 |
4 | lnc-DEFA3-2 | chr8:6886839-6887011 | NONHSAT124808 |
No data |
No data |
Variant related genes | Relation type |
---|---|
DEFA1B | TF binding region |
DEFA5 | TF binding region |
DEFA11P | TF binding region |
DEFA7P | TF binding region |
DEFA3 | TF binding region |
DEFA1B | CpG island |
DEFA5 | CpG island |
DEFA11P | CpG island |
DEFA7P | CpG island |
DEFA3 | CpG island |
ENSG00000164816 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7825750 | chr8:6879803-6879804 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs577468860 | chr8:6879806-6879807 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs371940428 | chr8:6879814-6879815 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs183992047 | chr8:6879832-6879833 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs531669510 | chr8:6879851-6879852 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs112742563 | chr8:6879855-6879856 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs143313846 | chr8:6879858-6879859 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs575567289 | chr8:6879879-6879880 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs397967634 | chr8:6879884-6879885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs7814783 | chr8:6879885-6879886 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs547531738 | chr8:6879893-6879894 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs548395104 | chr8:6879897-6879898 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs146216408 | chr8:6879917-6879918 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs138987731 | chr8:6879926-6879927 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs149884306 | chr8:6879937-6879938 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs537745355 | chr8:6879973-6879974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs554889767 | chr8:6879985-6879986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs187596396 | chr8:6879999-6880000 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs568280265 | chr8:6880023-6880024 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs533787868 | chr8:6880030-6880031 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs145848214 | chr8:6880031-6880032 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs537155662 | chr8:6880043-6880044 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs545958276 | chr8:6880055-6880056 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs200478862 | chr8:6880057-6880058 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs190976109 | chr8:6880058-6880059 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs62487514 | chr8:6880094-6880095 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs542147283 | chr8:6880103-6880104 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs182451929 | chr8:6880115-6880116 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs547791329 | chr8:6880119-6880120 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs564206400 | chr8:6880126-6880127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs78582717 | chr8:6880145-6880146 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs149015900 | chr8:6880152-6880153 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs568702644 | chr8:6880170-6880171 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs373297731 | chr8:6880181-6880182 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs186789091 | chr8:6880194-6880195 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs548139079 | chr8:6880195-6880196 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs566818931 | chr8:6880215-6880216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs568367801 | chr8:6880227-6880228 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs533523123 | chr8:6880258-6880259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs539861991 | chr8:6880263-6880264 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs190261747 | chr8:6880270-6880271 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs183129775 | chr8:6880271-6880272 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs6983783 | chr8:6880282-6880283 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs556332672 | chr8:6880283-6880284 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs576667864 | chr8:6880313-6880314 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs188458046 | chr8:6880316-6880317 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs145530452 | chr8:6880326-6880327 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs572712979 | chr8:6880334-6880335 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs541395060 | chr8:6880336-6880337 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs544409401 | chr8:6880347-6880348 | 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 |
Lung squamous cell carcinoma | 22363434 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Breast cancer | 21364760 | 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 |
Autism | 21865298 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Schizophrenia | 20967226 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:6873400-6884600 | Enhancers | Primary neutrophils fromperipheralblood | blood |
2 | chr8:6879800-6881200 | Enhancers | Dnd41 | blood |
3 | chr8:6881200-6881400 | Bivalent Enhancer | ES-WA7 Cell Line | embryonic stem cell |
4 | chr8:6882000-6882400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr8:6882200-6882400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
6 | chr8:6883200-6883400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr8:6883800-6884000 | Bivalent Enhancer | Fetal Intestine Large | intestine |
8 | chr8:6884200-6884800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
9 | chr8:6884400-6884600 | Bivalent Enhancer | Foreskin Keratinocyte Primary Cells skin02 | Skin |
10 | chr8:6884600-6885000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
11 | chr8:6884600-6885000 | Bivalent Enhancer | iPS-20b Cell Line | embryonic stem cell |
12 | chr8:6884600-6885000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
13 | chr8:6886800-6887000 | Bivalent Enhancer | H1 Derived Mesenchymal Stem Cells | ES cell derived |
14 | chr8:6892800-6901000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
15 | chr8:6896200-6900400 | Enhancers | Dnd41 | blood |
16 | chr8:6898400-6901600 | Enhancers | Primary neutrophils fromperipheralblood | blood |
17 | chr8:6899000-6900000 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
18 | chr8:6899200-6900600 | Bivalent Enhancer | Primary hematopoietic stem cells short term culture | blood |
19 | chr8:6899200-6900800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
20 | chr8:6899600-6900400 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
21 | chr8:6899600-6900600 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
22 | chr8:6899600-6901000 | Enhancers | Spleen | Spleen |
23 | chr8:6900000-6900400 | Flanking Bivalent TSS/Enh | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
24 | chr8:6900400-6901000 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
25 | chr8:6901000-6901200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
26 | chr8:6901600-6903600 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
27 | chr8:6903600-6905200 | Enhancers | Primary neutrophils fromperipheralblood | blood |
28 | chr8:6905000-6905200 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
29 | chr8:6905200-6905400 | Bivalent Enhancer | Esophagus | oesophagus |
30 | chr8:6907200-6908800 | ZNF genes & repeats | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |