Variant report
Variant | esv1813261 |
---|---|
Chromosome Location | chr7:118119143-118160303 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:5 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:118134734..118137695-chr7:118137994..118140423,2 | K562 | blood: | |
2 | chr7:118140754..118143733-chr7:118144595..118146815,2 | K562 | blood: | |
3 | chr7:118134734..118137695-chr7:118137994..118140423,2 | K562 | blood: | |
4 | chr7:118126613..118129053-chr7:118300054..118302327,2 | K562 | blood: | |
5 | chr7:118140754..118143733-chr7:118144595..118146815,2 | K562 | blood: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs39457 | chr7:118119143-118119144 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs577397721 | chr7:118119160-118119161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs544466043 | chr7:118119162-118119163 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs563041589 | chr7:118119233-118119234 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs530133273 | chr7:118119236-118119237 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs39458 | chr7:118119263-118119264 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs183011108 | chr7:118119285-118119286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs527642605 | chr7:118119319-118119320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs573076371 | chr7:118119372-118119373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs188639211 | chr7:118119386-118119387 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs369018204 | chr7:118119394-118119395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs570634033 | chr7:118119404-118119405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs191387438 | chr7:118119428-118119429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs183296420 | chr7:118119444-118119445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs74650596 | chr7:118119465-118119466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs140216800 | chr7:118119565-118119566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs373696683 | chr7:118119609-118119610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs34207391 | chr7:118119646-118119647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs1988700 | chr7:118119647-118119648 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs73475579 | chr7:118119681-118119682 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs141938949 | chr7:118119685-118119686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs559239865 | chr7:118119710-118119711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs544358823 | chr7:118119727-118119728 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs188022779 | chr7:118119772-118119773 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs544839770 | chr7:118119789-118119790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs556481848 | chr7:118119796-118119797 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs574650042 | chr7:118119806-118119807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs541932841 | chr7:118119813-118119814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs560182706 | chr7:118119824-118119825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs530035142 | chr7:118119897-118119898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs201436478 | chr7:118119913-118119914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs397751214 | chr7:118119923-118119924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs200115213 | chr7:118119924-118119925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs78779170 | chr7:118120006-118120007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs564444410 | chr7:118120014-118120015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs531503247 | chr7:118120042-118120043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs192487099 | chr7:118120052-118120053 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs72019765 | chr7:118120056-118120057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs568302862 | chr7:118120073-118120074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs147417699 | chr7:118120078-118120079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs138037565 | chr7:118120083-118120084 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs529071125 | chr7:118120123-118120124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs547543333 | chr7:118120130-118120131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs565767140 | chr7:118120148-118120149 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs539483555 | chr7:118120162-118120163 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs56297662 | chr7:118120223-118120224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs72106421 | chr7:118120224-118120225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs569590458 | chr7:118120225-118120226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs538163298 | chr7:118120232-118120233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs556780769 | chr7:118120244-118120245 | 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 |
Autism | 22495311 | 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 |
Metanephric adenoma | 20802469 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Prostate cancer | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Biliary cancer | 19435499 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Prostate cancer | 23792589 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Non-small cell lung cancer | 19889201 | CNVD |
Acute myeloid leukemia | 18000384 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Metastatic melanoma | 18483359 | CNVD |
Autism | 18414403 | CNVD |
Autism | 19401682 | CNVD |
Autism | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Melanoma | 19188590 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Hepatocellular carcinoma | 16785998 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Schizophrenia | 21346763 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Chordoma | 21215367 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:118117000-118120400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr7:118132600-118133000 | Active TSS | Stomach Smooth Muscle | stomach |
3 | chr7:118132600-118133800 | Enhancers | Fetal Brain Male | brain |
4 | chr7:118142000-118142200 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr7:118142200-118142400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr7:118142400-118142600 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr7:118142400-118142800 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
8 | chr7:118150600-118151000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
9 | chr7:118151000-118151400 | Enhancers | Brain Inferior Temporal Lobe | brain |
10 | chr7:118151000-118151600 | Flanking Active TSS | Foreskin Melanocyte Primary Cells skin03 | Skin |
11 | chr7:118151000-118151600 | Enhancers | Brain Hippocampus Middle | brain |
12 | chr7:118151600-118152600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
13 | chr7:118156000-118158000 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |