Variant report
Variant | esv3390731 |
---|---|
Chromosome Location | chr7:49983740-50023529 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:38)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:38 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr7:50013664-50013954 | A549 | lung: | n/a | chr7:50013814-50013825 |
2 | CEBPB | chr7:50013652-50013985 | HepG2 | liver: | n/a | chr7:50013814-50013825 |
3 | CEBPB | chr7:50013696-50013962 | K562 | blood: | n/a | chr7:50013814-50013825 |
4 | CEBPB | chr7:50013644-50013995 | IMR90 | lung: | n/a | chr7:50013814-50013825 |
5 | CEBPB | chr7:50018505-50018705 | HepG2 | liver: | n/a | chr7:50018636-50018647 |
6 | CTCF | chr7:50009433-50009559 | MCF-7 | breast: | n/a | n/a |
7 | CTCF | chr7:49997060-49997210 | NHLF | lung: | n/a | n/a |
8 | CTCF | chr7:50009360-50009510 | HAc | cerebellar: | n/a | n/a |
9 | CTCF | chr7:49986842-49986898 | GM13976 | blood: | n/a | n/a |
10 | CTCF | chr7:50009447-50009516 | ProgFib | skin: | n/a | n/a |
11 | E2F4 | chr7:49990736-49990931 | MCF10A-Er-Src | breast: | n/a | n/a |
12 | EP300 | chr7:50011428-50011519 | GM12878 | blood: | n/a | n/a |
13 | EP300 | chr7:50020484-50020512 | GM12878 | blood: | n/a | n/a |
14 | FAM48A | chr7:50011890-50011918 | GM12878 | blood: | n/a | n/a |
15 | GATA1 | chr7:50020022-50020672 | PBDE | blood: | n/a | n/a |
16 | GATA1 | chr7:50018678-50019280 | PBDE | blood: | n/a | n/a |
17 | JUN | chr7:49989253-49989435 | K562 | blood: | n/a | n/a |
18 | JUN | chr7:49986787-49986897 | HepG2 | liver: | n/a | n/a |
19 | JUND | chr7:49986738-49986939 | HepG2 | liver: | n/a | n/a |
20 | MAFK | chr7:50008243-50008295 | HepG2 | liver: | n/a | n/a |
21 | MYC | chr7:49999774-49999838 | HUVEC | blood vessel: | n/a | n/a |
22 | MYC | chr7:49999880-49999928 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | MYC | chr7:50009437-50009470 | MCF-7 | breast: | n/a | n/a |
24 | POLR2A | chr7:50017193-50017250 | MCF10A-Er-Src | breast: | n/a | n/a |
25 | POLR2A | chr7:50015801-50016195 | H1-neurons | neurons: | n/a | n/a |
26 | POLR2A | chr7:50015178-50015328 | MCF10A-Er-Src | breast: | n/a | n/a |
27 | POLR2A | chr7:50009436-50009599 | K562 | blood: | n/a | n/a |
28 | POLR2A | chr7:50013903-50014103 | MCF10A-Er-Src | breast: | n/a | n/a |
29 | POLR2A | chr7:50020162-50020190 | Gliobla | brain: | n/a | n/a |
30 | POLR2A | chr7:50015775-50016322 | H1-neurons | neurons: | n/a | n/a |
31 | POLR2A | chr7:50008517-50008584 | MCF10A-Er-Src | breast: | n/a | n/a |
32 | POLR2A | chr7:50009540-50009605 | Gliobla | brain: | n/a | n/a |
33 | RAD21 | chr7:49986888-49987150 | H1-hESC | embryonic stem cell: | n/a | n/a |
34 | RFX5 | chr7:50017886-50018045 | K562 | blood: | n/a | n/a |
35 | STAT3 | chr7:50019218-50019426 | MCF10A-Er-Src | breast: | n/a | n/a |
36 | ZNF143 | chr7:49990419-49990599 | H1-hESC | embryonic stem cell: | n/a | n/a |
37 | ZNF274 | chr7:50021347-50021557 | K562 | blood: | n/a | n/a |
38 | ZNF274 | chr7:50020369-50020784 | K562 | blood: | n/a | n/a |
No data |
(count:3 , 50 per page) page:
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000223893 | TF binding region |
ENSG00000223893 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7455758 | chr7:49986741-49986742 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs545261056 | chr7:49986787-49986788 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs116289174 | chr7:49986799-49986800 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs368090362 | chr7:49986818-49986819 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs144398782 | chr7:49986880-49986881 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs374665526 | chr7:49986893-49986894 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs188907043 | chr7:49986903-49986904 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs530262134 | chr7:49986941-49986942 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs550299399 | chr7:49986970-49986971 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs148762773 | chr7:49986977-49986978 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs371400210 | chr7:49986978-49986979 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs532568300 | chr7:49987038-49987039 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs551627952 | chr7:49987056-49987057 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs7782522 | chr7:49987078-49987079 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs181636506 | chr7:49987083-49987084 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs116934263 | chr7:49987139-49987140 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs574151366 | chr7:49987149-49987150 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs140631419 | chr7:49988285-49988286 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs554636945 | chr7:49988286-49988287 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs185261692 | chr7:49988287-49988288 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs144200118 | chr7:49988313-49988314 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs559443658 | chr7:49988350-49988351 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs528497190 | chr7:49988424-49988425 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs547344854 | chr7:49988476-49988477 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs112239498 | chr7:49988492-49988493 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs79017593 | chr7:49988500-49988501 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs529820750 | chr7:49988515-49988516 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs549602045 | chr7:49988519-49988520 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs569409092 | chr7:49988656-49988657 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs114528265 | chr7:49988664-49988665 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs530987037 | chr7:49988730-49988731 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs73349124 | chr7:49988877-49988878 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs565503424 | chr7:49988887-49988888 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs534636716 | chr7:49988908-49988909 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs55803220 | chr7:49988913-49988914 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs60062082 | chr7:49988964-49988965 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs59312862 | chr7:49989012-49989013 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs557636601 | chr7:49989050-49989051 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs189968352 | chr7:49989119-49989120 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs1911765 | chr7:49989169-49989170 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs71538359 | chr7:49989197-49989198 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs79236863 | chr7:49989233-49989234 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs557287211 | chr7:49989257-49989258 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs573131031 | chr7:49989304-49989305 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs541853115 | chr7:49989368-49989369 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs560837228 | chr7:49989369-49989370 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs529983585 | chr7:49989425-49989426 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs73349131 | chr7:49989506-49989507 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs372577328 | chr7:49989585-49989586 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs559235152 | chr7:49989644-49989645 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Glioblastoma multiforme | 17387387 | CNVD |
Astrocytoma | 17387387 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Biliary cancer | 19435499 | CNVD |
Wilms tumour | 21544195 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Glioma | 21971842 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Liposarcoma | 21253554 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Oral cancer | 21386901 | CNVD |
colon cancer | 17210682 | CNVD |
Lung adenocarcinoma | 21810691 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Hypothalamic hamartomas | 18252217 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Stenocardia | 21860640 | CNVD |
Vasospasm | 21860640 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Lung cancer | 18438408 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Cancer | 21637783 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Breast cancer | 16397240 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Autism | 22495311 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 21785460 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Williams-beuren syndrome | 22470819 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Gastric cancer | 24379144 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Non-small cell lung cancer | 17643093 | CNVD |
Ovarian cancer | 18182111 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Glioblastoma multiforme | 17369134 | CNVD |
Barrett''s esophagus | 18559552 | CNVD |
head and neck squamous cell carcinoma | 16943533 | CNVD |
Anaplastic thyroid cancer | 17079354 | CNVD |
Basal-like breast cancer | 17875215 | CNVD |
Colorectal cancer | 16882699 | CNVD |
Colorectal cancer | 18794099 | CNVD |
Gastrointestinal stromal cancer | 17643098 | CNVD |
Lung cancer | 18381415 | CNVD |
Metastatic colorectal cancer | 17664472 | CNVD |
Non-small cell lung cancer | 19255323 | CNVD |
Non-small cell lung cancer | 17673923 | CNVD |
Non-small cell lung cancer | 17975165 | CNVD |
Non-small cell lung cancer | 19622585 | CNVD |
Ovarian cancer | 16607561 | CNVD |
Squamous cell cancer | 19670535 | CNVD |
head and neck squamous cell carcinoma | 16818711 | CNVD |
small cell lung cancer | 18829487 | CNVD |
Breast cancer | 17661082 | CNVD |
Adenocarcinoma | 19260752 | CNVD |
Esophageal cancer | 16575012 | CNVD |
Lung adenocarcinoma | 19138956 | CNVD |
Lung adenocarcinoma | 18379350 | CNVD |
Lung adenocarcinoma | 18258923 | CNVD |
Lung cancer | 19138956 | CNVD |
Lung cancer | 18379350 | CNVD |
Lung cancer | 18258923 | CNVD |
Non-small cell lung cancer | 18304967 | CNVD |
Non-small cell lung cancer | 19451690 | CNVD |
Non-small cell lung cancer | 19260752 | CNVD |
Non-small cell lung cancer | 17079354 | CNVD |
Non-small cell lung cancer | 18559607 | CNVD |
Rectal cancer | 19506820 | CNVD |
Triple-negative breast cancer | 18950515 | CNVD |
head and neck squamous cell carcinoma | 18813952 | CNVD |
Non-small cell lung cancer | 17504988 | CNVD |
Non-small cell lung cancer | 16943533 | CNVD |
Non-small cell lung cancer | 18509184 | CNVD |
head and neck squamous cell carcinoma | 17538160 | CNVD |
Colorectal cancer | 19712476 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Lung cancer | 19671679 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lissencephaly | 21572526 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Acute lymphoblastic leukemia | 18768390 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:49996600-49997000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr7:50004400-50004600 | Active TSS | Ovary | ovary |
3 | chr7:50014400-50015000 | Enhancers | Left Ventricle | heart |
4 | chr7:50020200-50020400 | Bivalent/Poised TSS | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |