Variant report
Variant | nsv971593 |
---|---|
Chromosome Location | chr8:62818439-62824449 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2)
- CpG islands (count:183)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | POLR2A | chr8:62820015-62820057 | MCF10A-Er-Src | breast: | n/a | n/a |
2 | POLR2A | chr8:62823884-62823887 | MCF-7 | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:62823833-62823883 | SK-N-SH_RA | brain: | n/a |
2 | chr8:62823815-62823865 | SKMC | muscle: | n/a |
3 | chr8:62823833-62823883 | GM12892 | blood: | n/a |
4 | chr8:62823894-62823944 | ECC-1 | luminal epithelium: | n/a |
5 | chr8:62823815-62823865 | ECC-1 | luminal epithelium: | n/a |
6 | chr8:62823833-62823883 | SKMC | muscle: | n/a |
7 | chr8:62823833-62823883 | SAEC | small airway: | n/a |
8 | chr8:62823833-62823883 | NH-A | brain: | n/a |
9 | chr8:62823833-62823883 | MCF-7 | breast: | n/a |
10 | chr8:62823894-62823944 | GM12878 | blood: | n/a |
11 | chr8:62823894-62823944 | NB4 | blood: | n/a |
12 | chr8:62823833-62823883 | AG09319 | gingival: | n/a |
13 | chr8:62823815-62823865 | HUVEC | blood vessel: | n/a |
14 | chr8:62823833-62823883 | K562 | blood: | n/a |
15 | chr8:62823815-62823865 | HCF | heart: | n/a |
16 | chr8:62823815-62823865 | AG10803 | skin: | n/a |
17 | chr8:62823815-62823865 | LNCaP | prostate: | n/a |
18 | chr8:62823815-62823865 | PANC-1 | pancreas: | n/a |
19 | chr8:62823833-62823883 | BJ | skin: | n/a |
20 | chr8:62823894-62823944 | GM12892 | blood: | n/a |
21 | chr8:62823894-62823944 | SKMC | muscle: | n/a |
22 | chr8:62823833-62823883 | A549 | lung: | n/a |
23 | chr8:62823894-62823944 | HL-60 | blood: | n/a |
24 | chr8:62823833-62823883 | HEEpiC | esophagus: | n/a |
25 | chr8:62823815-62823865 | AG04449 | skin: | fetal |
26 | chr8:62823815-62823865 | HAEpiC | amniotic membrane: | n/a |
27 | chr8:62823894-62823944 | HRE | kidney: | n/a |
28 | chr8:62823815-62823865 | ProgFib | skin: | n/a |
29 | chr8:62823833-62823883 | PANC-1 | pancreas: | n/a |
30 | chr8:62823815-62823865 | HCT-116 | colon: | n/a |
31 | chr8:62823815-62823865 | SK-N-MC | brain: | n/a |
32 | chr8:62823894-62823944 | HepG2 | liver: | n/a |
33 | chr8:62823833-62823883 | IMR90 | lung: | fetal |
34 | chr8:62823815-62823865 | GM12878 | blood: | n/a |
35 | chr8:62823815-62823865 | HNPCEpiC | eye: | n/a |
36 | chr8:62823894-62823944 | SK-N-SH_RA | brain: | n/a |
37 | chr8:62823894-62823944 | HCT-116 | colon: | n/a |
38 | chr8:62823833-62823883 | CMK | blood: | n/a |
39 | chr8:62823815-62823865 | T-47D | breast: | n/a |
40 | chr8:62823833-62823883 | HCF | heart: | n/a |
41 | chr8:62823815-62823865 | AG04450 | lung: | fetal |
42 | chr8:62823894-62823944 | BE2_C | brain: | n/a |
43 | chr8:62823894-62823944 | Hela-S3 | cervix: | n/a |
44 | chr8:62823833-62823883 | HIPEpiC | eye: | n/a |
45 | chr8:62823833-62823883 | NT2-D1 | testis: | n/a |
46 | chr8:62823815-62823865 | Hepatocyte | liver: | n/a |
47 | chr8:62823894-62823944 | NT2-D1 | testis: | n/a |
48 | chr8:62823815-62823865 | CMK | blood: | n/a |
49 | chr8:62823815-62823865 | NHDF-neo | bronchial: | n/a |
50 | chr8:62823833-62823883 | HUVEC | blood vessel: | n/a |
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000253544 | TF binding region |
ENSG00000253544 | CpG island |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs553411530 | chr8:62818473-62818474 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs58381197 | chr8:62818488-62818489 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs73255183 | chr8:62818529-62818530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs72662649 | chr8:62818664-62818665 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs576025109 | chr8:62818678-62818679 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs145029510 | chr8:62818793-62818794 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs565573828 | chr8:62818820-62818821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs532710739 | chr8:62818900-62818901 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs114558311 | chr8:62818922-62818923 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs560032408 | chr8:62818985-62818986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs115798441 | chr8:62823831-62823832 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs116260687 | chr8:62823857-62823858 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs556710070 | chr8:62823866-62823867 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs147146667 | chr8:62823872-62823873 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs148606454 | chr8:62823878-62823879 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs558045897 | chr8:62823917-62823918 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs573167225 | chr8:62823924-62823925 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs187589831 | chr8:62823925-62823926 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs555254131 | chr8:62823927-62823928 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs573794484 | chr8:62823932-62823933 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs543941527 | chr8:62823938-62823939 | Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs562244871 | chr8:62823946-62823947 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs77418858 | chr8:62823958-62823959 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs544595946 | chr8:62823984-62823985 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs192921217 | chr8:62823990-62823991 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs527957963 | chr8:62824031-62824032 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs548428894 | chr8:62824042-62824043 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs549687030 | chr8:62824084-62824085 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs16918891 | chr8:62824086-62824087 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs71513472 | chr8:62824164-62824165 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs531955836 | chr8:62824177-62824178 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs564116174 | chr8:62824192-62824193 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs13267075 | chr8:62824201-62824202 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs183835672 | chr8:62824205-62824206 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs532909020 | chr8:62824214-62824215 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs571781764 | chr8:62824263-62824264 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs188998864 | chr8:62824325-62824326 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs547811735 | chr8:62824343-62824344 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs549467228 | chr8:62824380-62824381 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs563004840 | chr8:62824382-62824383 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs150742815 | chr8:62824387-62824388 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs533808536 | chr8:62824403-62824404 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs113075722 | chr8:62824421-62824422 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | 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 |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Multiple myeloma | 16461302 | CNVD |
abnormal development | 18461090 | CNVD |
Cancer | 20164920 | CNVD |
Oral cancer | 21386901 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Melanoma | 22183965 | CNVD |
Cancer | 21949371 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Acute myeloid leukemia | 21358987 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Colorectal cancer | 21645411 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:62818200-62819000 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
2 | chr8:62823800-62824000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr8:62823800-62824000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
4 | chr8:62823800-62824000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
5 | chr8:62823800-62824600 | Enhancers | H1 Cell Line | embryonic stem cell |
6 | chr8:62823800-62826200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
7 | chr8:62824000-62824200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
8 | chr8:62824000-62824800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
9 | chr8:62824000-62825000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
10 | chr8:62824000-62826200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
11 | chr8:62824000-62826400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
12 | chr8:62824000-62826600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
13 | chr8:62824200-62825400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
14 | chr8:62824200-62825400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |