Variant report
Variant | esv3359534 |
---|---|
Chromosome Location | chr6:72287829-72291581 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:10)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:10 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | FOS | chr6:72289741-72289892 | MCF10A-Er-Src | breast: | n/a | n/a |
2 | FOS | chr6:72289637-72289950 | MCF10A-Er-Src | breast: | n/a | n/a |
3 | FOS | chr6:72289640-72289950 | MCF10A-Er-Src | breast: | n/a | n/a |
4 | MAFF | chr6:72289663-72289935 | HepG2 | liver: | n/a | n/a |
5 | MAFK | chr6:72289651-72289936 | HepG2 | liver: | n/a | chr6:72289805-72289820 |
6 | MAFK | chr6:72289651-72289934 | HepG2 | liver: | n/a | chr6:72289805-72289820 |
7 | POLR2A | chr6:72290639-72290822 | MCF10A-Er-Src | breast: | n/a | n/a |
8 | POLR2A | chr6:72289352-72289429 | GM12878 | blood: | n/a | n/a |
9 | STAT3 | chr6:72289677-72289988 | MCF10A-Er-Src | breast: | n/a | n/a |
10 | STAT3 | chr6:72289761-72289952 | MCF10A-Er-Src | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:72290918-72290968 | SK-N-SH_RA | brain: | n/a |
2 | chr6:72290918-72290968 | HEK293 | kidney: | embryo |
3 | chr6:72290918-72290968 | BE2_C | brain: | n/a |
4 | chr6:72290918-72290968 | H1-hESC | embryonic stem cell: | embryo |
5 | chr6:72290918-72290968 | GM12891 | blood: | n/a |
6 | chr6:72290918-72290968 | SK-N-SH | brain: | n/a |
7 | chr6:72290918-72290968 | K562 | blood: | n/a |
8 | chr6:72290918-72290968 | IMR90 | lung: | fetal |
9 | chr6:72290918-72290968 | ovcar-3 | ovarian: | n/a |
10 | chr6:72290918-72290968 | PANC-1 | pancreas: | n/a |
11 | chr6:72290918-72290968 | Jurkat | blood: | n/a |
12 | chr6:72290918-72290968 | SAEC | small airway: | n/a |
13 | chr6:72290918-72290968 | HAEpiC | amniotic membrane: | n/a |
14 | chr6:72290918-72290968 | NB4 | blood: | n/a |
15 | chr6:72290918-72290968 | HRE | kidney: | n/a |
16 | chr6:72290918-72290968 | AG09309 | skin: | n/a |
17 | chr6:72290918-72290968 | HL-60 | blood: | n/a |
18 | chr6:72290918-72290968 | HRPEpiC | eye: | n/a |
19 | chr6:72290918-72290968 | HCT-116 | colon: | n/a |
20 | chr6:72290918-72290968 | NH-A | brain: | n/a |
21 | chr6:72290918-72290968 | GM12892 | blood: | n/a |
22 | chr6:72290918-72290968 | ECC-1 | luminal epithelium: | n/a |
23 | chr6:72290918-72290968 | T-47D | breast: | n/a |
24 | chr6:72290918-72290968 | GM19239 | blood: | n/a |
25 | chr6:72290918-72290968 | GM12878 | blood: | n/a |
26 | chr6:72290918-72290968 | HCPEpiC | choroid plexus: | n/a |
27 | chr6:72290918-72290968 | PFSK-1 | brain: | n/a |
28 | chr6:72290918-72290968 | HMEC | breast: | n/a |
29 | chr6:72290918-72290968 | BJ | skin: | n/a |
30 | chr6:72290918-72290968 | RPTEC | kidney: | n/a |
31 | chr6:72290918-72290968 | HRCEpiC | kidney: | n/a |
32 | chr6:72290918-72290968 | AoSMC | blood vessel: | n/a |
33 | chr6:72290918-72290968 | LNCaP | prostate: | n/a |
34 | chr6:72290918-72290968 | HCF | heart: | n/a |
35 | chr6:72290918-72290968 | NHBE | bronchial: | n/a |
36 | chr6:72290918-72290968 | HCM | heart: | n/a |
37 | chr6:72290918-72290968 | MCF10A-Er-Src | breast: | n/a |
38 | chr6:72290918-72290968 | HNPCEpiC | eye: | n/a |
39 | chr6:72290918-72290968 | SKMC | muscle: | n/a |
40 | chr6:72290918-72290968 | U87 | brain: | n/a |
41 | chr6:72290918-72290968 | GM06990 | blood: | n/a |
42 | chr6:72290918-72290968 | HIPEpiC | eye: | n/a |
43 | chr6:72290918-72290968 | AG10803 | skin: | n/a |
44 | chr6:72290918-72290968 | Hepatocyte | liver: | n/a |
45 | chr6:72290918-72290968 | PrEC | prostate: | n/a |
46 | chr6:72290918-72290968 | AG09319 | gingival: | n/a |
47 | chr6:72290918-72290968 | HEEpiC | esophagus: | n/a |
48 | chr6:72290918-72290968 | Caco-2 | colon: | n/a |
49 | chr6:72290918-72290968 | NHDF-neo | bronchial: | n/a |
50 | chr6:72290918-72290968 | ProgFib | skin: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
KRT19P1 | TF binding region |
ENSG00000211530 | TF binding region |
KRT19P1 | CpG island |
ENSG00000211530 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs192346706 | chr6:72288811-72288812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs623774 | chr6:72288840-72288841 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs542781341 | chr6:72288868-72288869 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs370807103 | chr6:72288886-72288887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs115389758 | chr6:72288912-72288913 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs528371940 | chr6:72288962-72288963 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs1486600 | chr6:72288967-72288968 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs542142784 | chr6:72289017-72289018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs75440931 | chr6:72289043-72289044 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs1486599 | chr6:72289071-72289072 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs568980301 | chr6:72289121-72289122 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs562014606 | chr6:72289129-72289130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs552609681 | chr6:72289178-72289179 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs184768224 | chr6:72289192-72289193 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs374243292 | chr6:72289201-72289202 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs567089753 | chr6:72289289-72289290 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs534501236 | chr6:72289327-72289328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs144031556 | chr6:72289335-72289336 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs571270450 | chr6:72289341-72289342 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs80241482 | chr6:72289367-72289368 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs557116365 | chr6:72289402-72289403 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs146011053 | chr6:72289419-72289420 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs532492529 | chr6:72289444-72289445 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs542494828 | chr6:72289445-72289446 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs148662609 | chr6:72289454-72289455 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs142243903 | chr6:72289471-72289472 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs1471854 | chr6:72289564-72289565 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs4529262 | chr6:72289567-72289568 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs576847461 | chr6:72289570-72289571 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs188794839 | chr6:72289645-72289646 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs6927647 | chr6:72289651-72289652 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs192966727 | chr6:72289682-72289683 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs6927854 | chr6:72289739-72289740 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs560738968 | chr6:72289742-72289743 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs372143602 | chr6:72289755-72289756 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs527839055 | chr6:72289815-72289816 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs1486598 | chr6:72289825-72289826 | Weak transcription Enhancers | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs35920618 | chr6:72289832-72289833 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs1486597 | chr6:72289870-72289871 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs571133858 | chr6:72289884-72289885 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs201809202 | chr6:72289909-72289910 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs12203528 | chr6:72289911-72289912 | Weak transcription Enhancers | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs550582529 | chr6:72289955-72289956 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs568900273 | chr6:72289984-72289985 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs1486596 | chr6:72290080-72290081 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
46 | rs554322432 | chr6:72290119-72290120 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs1486595 | chr6:72290178-72290179 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs71762324 | chr6:72290191-72290192 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs398065935 | chr6:72290201-72290202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs80026924 | chr6:72290202-72290203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Autism | 22495311 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Gastric cancer | 17908304 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 16272173 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Ependymoma | 16718352 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16272173 | CNVD |
Developmental delay | 21147756 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Ovarian cancer | 17437010 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioma | 17123091 | CNVD |
Mental retardation | 17124404 | CNVD |
Chondromyxoid Fibroma | 20696777 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Follicular lymphoma | 17699855 | CNVD |
Breast cancer | 17133270 | CNVD |
Leukemia | 18688285 | CNVD |
Prostate cancer | 19242612 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:72288800-72289600 | Enhancers | Pancreas | Pancrea |
2 | chr6:72289200-72289400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr6:72289200-72289600 | Enhancers | Fetal Intestine Large | intestine |
4 | chr6:72289200-72289600 | Enhancers | Fetal Intestine Small | intestine |
5 | chr6:72289200-72290200 | Enhancers | HUVEC | blood vessel |
6 | chr6:72289400-72290000 | Enhancers | Muscle Satellite Cultured Cells | -- |
7 | chr6:72289400-72295400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |