Variant report
Variant | nsv522444 |
---|---|
Chromosome Location | chr13:54968789-54970746 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- 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 | rs7335700 | chr13:54968789-54968790 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs574768865 | chr13:54968890-54968891 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs371083995 | chr13:54968898-54968899 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs376386307 | chr13:54968919-54968920 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs552905628 | chr13:54968941-54968942 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs566346238 | chr13:54968950-54968951 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs535244883 | chr13:54968984-54968985 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs555185541 | chr13:54968985-54968986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs140998159 | chr13:54969021-54969022 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs537547647 | chr13:54969035-54969036 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs181282153 | chr13:54969041-54969042 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs577178651 | chr13:54969056-54969057 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs528792629 | chr13:54969077-54969078 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs28510486 | chr13:54969112-54969113 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs77404151 | chr13:54969121-54969122 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs571976033 | chr13:54969150-54969151 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs184045207 | chr13:54969170-54969171 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs561117487 | chr13:54969216-54969217 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs529799611 | chr13:54969232-54969233 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs530502230 | chr13:54969234-54969235 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs549840610 | chr13:54969265-54969266 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs550727435 | chr13:54969308-54969309 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs570575492 | chr13:54969309-54969310 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs78173959 | chr13:54969313-54969314 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs532153043 | chr13:54969320-54969321 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs552164726 | chr13:54969362-54969363 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs73490585 | chr13:54969378-54969379 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs373792467 | chr13:54969425-54969426 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs9536707 | chr13:54969439-54969440 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs150214855 | chr13:54969445-54969446 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs190057776 | chr13:54969458-54969459 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs9536708 | chr13:54969476-54969477 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs537207081 | chr13:54969479-54969480 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs557431951 | chr13:54969493-54969494 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs577239436 | chr13:54969500-54969501 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs138752360 | chr13:54969506-54969507 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs552933368 | chr13:54969531-54969532 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs572039581 | chr13:54969533-54969534 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs9536709 | chr13:54969538-54969539 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs148926877 | chr13:54969553-54969554 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs568549378 | chr13:54969589-54969590 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs543223006 | chr13:54969621-54969622 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs181779243 | chr13:54969622-54969623 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs75492302 | chr13:54969672-54969673 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs9527202 | chr13:54969678-54969679 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs559387215 | chr13:54969684-54969685 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs537775777 | chr13:54969714-54969715 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs528834625 | chr13:54969736-54969737 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs548907191 | chr13:54969752-54969753 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs568615082 | chr13:54969833-54969834 | Weak transcription Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Prostate cancer | 16705090 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Autism | 22495311 | CNVD |
Chordoma | 21602918 | CNVD |
Bladder cancer | 21949216 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Cancer | 21637783 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 21518781 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Intracranial aneurysm | 19064780 | CNVD |
Breast cancer | 19287154 | CNVD |
Acute myeloid leukemia | 18379011 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Ependymoma | 16718352 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17133270 | CNVD |
Myoepithelioma | 18604193 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Prostate cancer | 16573809 | CNVD |
Prostate cancer | 18632612 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Prostate cancer | 19242612 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Prostate cancer | 17245344 | CNVD |
Colorectal cancer | 21586687 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Developmental delay | 21147756 | CNVD |
Melanoma | 18172304 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 17053054 | CNVD |
Multiple myeloma | 19135901 | CNVD |
Autism | 18414403 | CNVD |
Neurocytoma | 17123091 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Prostate cancer | 16461572 | CNVD |
Merkel cell carcinoma | 19020549 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Multiple myeloma | 17550852 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16272173 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
Gastric cancer | 17908304 | CNVD |
Breast cancer | 18852474 | CNVD |
Myelofibrosis | 22110671 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Breast cancer | 17603634 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 17393978 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Liposarcoma | 21253554 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Schizophrenia | 23813976 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:54967600-54970400 | Enhancers | Fetal Intestine Large | intestine |
2 | chr13:54968000-54969600 | Enhancers | Fetal Intestine Small | intestine |
3 | chr13:54968400-54969000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
4 | chr13:54968400-54969200 | Enhancers | Duodenum Mucosa | Duodenum |
5 | chr13:54968400-54969600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
6 | chr13:54968400-54969600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
7 | chr13:54968600-54968800 | Enhancers | H1 Cell Line | embryonic stem cell |
8 | chr13:54968600-54968800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
9 | chr13:54968600-54969200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
10 | chr13:54968600-54969400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
11 | chr13:54968800-54969600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
12 | chr13:54969000-54980800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
13 | chr13:54969200-54969800 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
14 | chr13:54969600-54970000 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
15 | chr13:54969600-54982400 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
16 | chr13:54970000-54970800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |