Variant report
Variant | esv3428937 |
---|---|
Chromosome Location | chr7:137967312-137969360 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs527366610 | chr7:137967367-137967368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs142990401 | chr7:137967370-137967371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs567078555 | chr7:137967381-137967382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs113003627 | chr7:137967393-137967394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs188982268 | chr7:137967406-137967407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs569528187 | chr7:137967447-137967448 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs191887018 | chr7:137967453-137967454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs144656962 | chr7:137967475-137967476 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs372725918 | chr7:137967479-137967480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs578060840 | chr7:137967519-137967520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs184233079 | chr7:137967539-137967540 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs113713561 | chr7:137967540-137967541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs188564279 | chr7:137967544-137967545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs542373216 | chr7:137967560-137967561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs562445772 | chr7:137967573-137967574 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs575922891 | chr7:137967683-137967684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs373286377 | chr7:137967698-137967699 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs544640992 | chr7:137967700-137967701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs148482810 | chr7:137967738-137967739 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs141773873 | chr7:137967789-137967790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs76375925 | chr7:137967793-137967794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs7809336 | chr7:137967806-137967807 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs180895546 | chr7:137967808-137967809 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs386718299 | chr7:137967809-137967810 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs2882979 | chr7:137967810-137967811 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs538521589 | chr7:137967818-137967819 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs558168220 | chr7:137967875-137967876 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs186051820 | chr7:137967902-137967903 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs571636249 | chr7:137967911-137967912 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs536127544 | chr7:137967932-137967933 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs75928997 | chr7:137967953-137967954 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs190577519 | chr7:137967965-137967966 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs76904847 | chr7:137968010-137968011 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs6977601 | chr7:137968029-137968030 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs376836005 | chr7:137968074-137968075 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs555924086 | chr7:137968076-137968077 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs575961645 | chr7:137968085-137968086 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs544924905 | chr7:137968093-137968094 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs565000967 | chr7:137968122-137968123 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs6958123 | chr7:137968144-137968145 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs112425831 | chr7:137968155-137968156 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs529962259 | chr7:137968183-137968184 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs10263483 | chr7:137968186-137968187 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs182305373 | chr7:137968187-137968188 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs62488568 | chr7:137968189-137968190 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs62488569 | chr7:137968193-137968194 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs62488570 | chr7:137968197-137968198 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs62488571 | chr7:137968199-137968200 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs199956604 | chr7:137968202-137968203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs370127166 | chr7:137968214-137968215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | 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 |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Wilms tumour | 21544195 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Shwachman-Diamond syndrome | 22934832 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Cutaneous malignant melanoma | 17690212 | CNVD |
Leukemia | 17361228 | CNVD |
Breast cancer | 16461572 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Malignant melanoma | 17690212 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Melanoma | 19188590 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
abnormal development | 18461090 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Malignant melanoma | 17260012 | CNVD |
Coffin-Siris syndrome | 21572526 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Hodgkin''s lymphoma | 18179710 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Breast cancer | 16272173 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Stuttering | 21108403 | CNVD |
Breast cancer | 17603634 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Neuroticism | 17667963 | CNVD |
Myelodysplastic syndrome | 17634407 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Bladder cancer | 21909424 | CNVD |
Cancer | 21129771 | CNVD |
Myelofibrosis | 22110671 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
T-cell acute lymphoblastic leukemia | 16673021 | CNVD |
Cancer | 21183584 | CNVD |
Intracranial ependymoma | 16609018 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Developmental delay | 19490664 | CNVD |
Pancreatitis | 20877625 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:137953000-137974000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr7:137963800-137973600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr7:137967800-137968000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
4 | chr7:137967800-137968200 | Enhancers | Ovary | ovary |
5 | chr7:137968000-137968600 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
6 | chr7:137968200-137969400 | Weak transcription | Ovary | ovary |
7 | chr7:137968600-137969200 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
8 | chr7:137968600-137971200 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
9 | chr7:137969200-137969800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
10 | chr7:137969200-137971400 | Enhancers | HepG2 | liver |