Variant report
Variant | nsv891325 |
---|---|
Chromosome Location | chr8:113655596-113681944 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:64)
- CpG islands (count:122)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 1)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:113655561-113655611 | ovcar-3 | ovarian: | n/a |
2 | chr8:113655561-113655611 | GM19239 | blood: | n/a |
3 | chr8:113656015-113656065 | U87 | brain: | n/a |
4 | chr8:113655561-113655611 | HMEC | breast: | n/a |
5 | chr8:113656015-113656065 | HRPEpiC | eye: | n/a |
6 | chr8:113656015-113656065 | AG09319 | gingival: | n/a |
7 | chr8:113656015-113656065 | PANC-1 | pancreas: | n/a |
8 | chr8:113656015-113656065 | HNPCEpiC | eye: | n/a |
9 | chr8:113656015-113656065 | ovcar-3 | ovarian: | n/a |
10 | chr8:113655561-113655611 | GM06990 | blood: | n/a |
11 | chr8:113656015-113656065 | GM06990 | blood: | n/a |
12 | chr8:113655561-113655611 | SK-N-MC | brain: | n/a |
13 | chr8:113656015-113656065 | GM19239 | blood: | n/a |
14 | chr8:113655561-113655611 | HCT-116 | colon: | n/a |
15 | chr8:113655561-113655611 | AoSMC | blood vessel: | n/a |
16 | chr8:113655561-113655611 | MCF10A-Er-Src | breast: | n/a |
17 | chr8:113655561-113655611 | HRE | kidney: | n/a |
18 | chr8:113656015-113656065 | ProgFib | skin: | n/a |
19 | chr8:113655561-113655611 | LNCaP | prostate: | n/a |
20 | chr8:113655561-113655611 | PFSK-1 | brain: | n/a |
21 | chr8:113656015-113656065 | MCF10A-Er-Src | breast: | n/a |
22 | chr8:113655561-113655611 | HRCEpiC | kidney: | n/a |
23 | chr8:113655561-113655611 | BE2_C | brain: | n/a |
24 | chr8:113656015-113656065 | NHDF-neo | bronchial: | n/a |
25 | chr8:113655561-113655611 | ECC-1 | luminal epithelium: | n/a |
26 | chr8:113655561-113655611 | AG09309 | skin: | n/a |
27 | chr8:113655561-113655611 | HAEpiC | amniotic membrane: | n/a |
28 | chr8:113656015-113656065 | HCPEpiC | choroid plexus: | n/a |
29 | chr8:113655561-113655611 | GM12891 | blood: | n/a |
30 | chr8:113656015-113656065 | HCM | heart: | n/a |
31 | chr8:113656015-113656065 | Caco-2 | colon: | n/a |
32 | chr8:113656015-113656065 | BE2_C | brain: | n/a |
33 | chr8:113656015-113656065 | A549 | lung: | n/a |
34 | chr8:113656015-113656065 | HRCEpiC | kidney: | n/a |
35 | chr8:113655561-113655611 | Jurkat | blood: | n/a |
36 | chr8:113655561-113655611 | SAEC | small airway: | n/a |
37 | chr8:113656015-113656065 | HRE | kidney: | n/a |
38 | chr8:113655561-113655611 | CMK | blood: | n/a |
39 | chr8:113656015-113656065 | HEEpiC | esophagus: | n/a |
40 | chr8:113655561-113655611 | AG09319 | gingival: | n/a |
41 | chr8:113656015-113656065 | T-47D | breast: | n/a |
42 | chr8:113655561-113655611 | A549 | lung: | n/a |
43 | chr8:113655561-113655611 | T-47D | breast: | n/a |
44 | chr8:113656015-113656065 | BJ | skin: | n/a |
45 | chr8:113655561-113655611 | GM12878 | blood: | n/a |
46 | chr8:113655561-113655611 | ProgFib | skin: | n/a |
47 | chr8:113656015-113656065 | SK-N-SH | brain: | n/a |
48 | chr8:113656015-113656065 | PrEC | prostate: | n/a |
49 | chr8:113656015-113656065 | SKMC | muscle: | n/a |
50 | chr8:113656015-113656065 | HCF | heart: | n/a |
(count:4 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:113659187..113660730-chr8:113666931..113668583,2 | MCF-7 | breast: | |
2 | chr8:113656932..113658484-chr8:113659367..113661819,2 | K562 | blood: | |
3 | chr8:113656932..113658484-chr8:113659367..113661819,2 | K562 | blood: | |
4 | chr8:113659187..113660730-chr8:113666931..113668583,2 | MCF-7 | breast: |
No data |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-2053 | chr8:113655782-113655804 | MIMAT0009978 |
No data |
Variant related genes | Relation type |
---|---|
MIR2053 | TF binding region |
MIR2053 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs10505169 | chr8:113655596-113655597 | Weak transcription | CpG island | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs373428331 | chr8:113655612-113655613 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs112584207 | chr8:113655643-113655644 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs372574994 | chr8:113655644-113655645 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs56323503 | chr8:113655647-113655648 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs569265151 | chr8:113655691-113655692 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs147978848 | chr8:113655711-113655712 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs373958615 | chr8:113655712-113655713 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs528522247 | chr8:113655748-113655749 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs10505168 | chr8:113655752-113655753 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs565265571 | chr8:113655794-113655795 | Enhancers Weak transcription | miRNA | n/a | Overlapped CNVs | n/a |
12 | rs530718395 | chr8:113655806-113655807 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs557986080 | chr8:113655825-113655826 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs145568279 | chr8:113655869-113655870 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs190511290 | chr8:113655879-113655880 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs192559870 | chr8:113655890-113655891 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs374683885 | chr8:113655951-113655952 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs546579088 | chr8:113655958-113655959 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs184367371 | chr8:113655962-113655963 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs567877327 | chr8:113655966-113655967 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs534892815 | chr8:113655988-113655989 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs145413063 | chr8:113656017-113656018 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs116721030 | chr8:113656042-113656043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs114649387 | chr8:113656059-113656060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs189071838 | chr8:113656096-113656097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs557317371 | chr8:113656114-113656115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs553810225 | chr8:113656137-113656138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs542684082 | chr8:113656175-113656176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs141647784 | chr8:113656225-113656226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs78132290 | chr8:113656242-113656243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs181734664 | chr8:113656293-113656294 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs201299015 | chr8:113656304-113656305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs186459813 | chr8:113656378-113656379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs373235418 | chr8:113656432-113656433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs538253042 | chr8:113656447-113656448 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs4373545 | chr8:113656595-113656596 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs544349319 | chr8:113656596-113656597 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs560935803 | chr8:113656611-113656612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs529983873 | chr8:113656654-113656655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs540873551 | chr8:113656685-113656686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs546937971 | chr8:113656707-113656708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs189708069 | chr8:113656744-113656745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs532128650 | chr8:113656774-113656775 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs370287086 | chr8:113656780-113656781 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs79638311 | chr8:113656797-113656798 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs13258944 | chr8:113656821-113656822 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs537545118 | chr8:113656822-113656823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs201875656 | chr8:113656827-113656828 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs73702364 | chr8:113656861-113656862 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs377413140 | chr8:113656865-113656866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Gastric cancer | 17908304 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Seminomas | 18059402 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 17603634 | CNVD |
Testicular cancer | 18059402 | 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 |
abnormal development | 18461090 | 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 |
Glioblastoma multiforme | 21080181 | 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 |
Cancer | 16751803 | 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 |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Prostate cancer | 16461572 | CNVD |
Breast cancer | 21399628 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 17393978 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Breast cancer | 17899364 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Autosomal-dominant progressive external ophthalmoplegia | 19664747 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Breast cancer | 21611746 | CNVD |
Developmental delay | 21147756 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Congenital diaphragmatic hernia | 21525063 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21364760 | CNVD |
Neuroticism | 17667963 | CNVD |
Papillary thyroid cancer | 17515504 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Schizophrenia | 20967226 | CNVD |
Prostate cancer | 22341455 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:113629200-113680600 | Weak transcription | NHEK | skin |
2 | chr8:113629400-113661800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr8:113636200-113663600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
4 | chr8:113636800-113680400 | Weak transcription | HMEC | breast |
5 | chr8:113655600-113656000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
6 | chr8:113661800-113663400 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr8:113663400-113676600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr8:113663600-113664400 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
9 | chr8:113664400-113666000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
10 | chr8:113666000-113666400 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
11 | chr8:113666400-113675800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
12 | chr8:113673600-113674000 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
13 | chr8:113675800-113678400 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
14 | chr8:113676600-113678000 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
15 | chr8:113678000-113678400 | Enhancers | Fetal Lung | lung |
16 | chr8:113678000-113682400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
17 | chr8:113678400-113682200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
18 | chr8:113679400-113680000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
19 | chr8:113679600-113679800 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
20 | chr8:113679800-113683200 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
21 | chr8:113680400-113681000 | Enhancers | HMEC | breast |
22 | chr8:113680600-113681000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
23 | chr8:113680600-113681000 | Enhancers | NHEK | skin |
24 | chr8:113681000-113682200 | Weak transcription | NHEK | skin |
25 | chr8:113681000-113682400 | Weak transcription | HMEC | breast |
26 | chr8:113681000-113684400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |