Variant report
Variant | nsv1028484 |
---|---|
Chromosome Location | chr5:104425548-104502955 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:160)
- CpG islands (count:305)
- Chromatin interactive region (count:9)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:104433849-104433899 | NH-A | brain: | n/a |
2 | chr5:104435608-104435658 | K562 | blood: | n/a |
3 | chr5:104434864-104434914 | SAEC | small airway: | n/a |
4 | chr5:104435608-104435658 | LNCaP | prostate: | n/a |
5 | chr5:104435062-104435112 | SAEC | small airway: | n/a |
6 | chr5:104435062-104435112 | IMR90 | lung: | fetal |
7 | chr5:104434827-104434877 | SK-N-SH_RA | brain: | n/a |
8 | chr5:104434864-104434914 | A549 | lung: | n/a |
9 | chr5:104434864-104434914 | BE2_C | brain: | n/a |
10 | chr5:104435608-104435658 | SAEC | small airway: | n/a |
11 | chr5:104435608-104435658 | PANC-1 | pancreas: | n/a |
12 | chr5:104434864-104434914 | ProgFib | skin: | n/a |
13 | chr5:104434827-104434877 | GM12878 | blood: | n/a |
14 | chr5:104434864-104434914 | ovcar-3 | ovarian: | n/a |
15 | chr5:104434827-104434877 | AG09309 | skin: | n/a |
16 | chr5:104434864-104434914 | AG04450 | lung: | fetal |
17 | chr5:104435062-104435112 | AG04449 | skin: | fetal |
18 | chr5:104434827-104434877 | HAEpiC | amniotic membrane: | n/a |
19 | chr5:104434827-104434877 | A549 | lung: | n/a |
20 | chr5:104433849-104433899 | HEEpiC | esophagus: | n/a |
21 | chr5:104435608-104435658 | HepG2 | liver: | n/a |
22 | chr5:104435062-104435112 | HMEC | breast: | n/a |
23 | chr5:104434827-104434877 | GM19239 | blood: | n/a |
24 | chr5:104435062-104435112 | GM06990 | blood: | n/a |
25 | chr5:104435608-104435658 | HPAEpiC | pulmonary alveolar: | n/a |
26 | chr5:104435062-104435112 | BJ | skin: | n/a |
27 | chr5:104434827-104434877 | ECC-1 | luminal epithelium: | n/a |
28 | chr5:104434864-104434914 | PANC-1 | pancreas: | n/a |
29 | chr5:104435062-104435112 | HCF | heart: | n/a |
30 | chr5:104433849-104433899 | Hela-S3 | cervix: | n/a |
31 | chr5:104433849-104433899 | AG04449 | skin: | fetal |
32 | chr5:104434827-104434877 | U87 | brain: | n/a |
33 | chr5:104435608-104435658 | BJ | skin: | n/a |
34 | chr5:104435608-104435658 | HAEpiC | amniotic membrane: | n/a |
35 | chr5:104434864-104434914 | HEEpiC | esophagus: | n/a |
36 | chr5:104435608-104435658 | AG04449 | skin: | fetal |
37 | chr5:104435608-104435658 | ECC-1 | luminal epithelium: | n/a |
38 | chr5:104435062-104435112 | PANC-1 | pancreas: | n/a |
39 | chr5:104435608-104435658 | NHBE | bronchial: | n/a |
40 | chr5:104434827-104434877 | HRE | kidney: | n/a |
41 | chr5:104433849-104433899 | HCPEpiC | choroid plexus: | n/a |
42 | chr5:104435062-104435112 | GM19239 | blood: | n/a |
43 | chr5:104433849-104433899 | NHBE | bronchial: | n/a |
44 | chr5:104433849-104433899 | HepG2 | liver: | n/a |
45 | chr5:104434864-104434914 | NH-A | brain: | n/a |
46 | chr5:104434827-104434877 | Hela-S3 | cervix: | n/a |
47 | chr5:104434827-104434877 | MCF10A-Er-Src | breast: | n/a |
48 | chr5:104433849-104433899 | RPTEC | kidney: | n/a |
49 | chr5:104433849-104433899 | H1-hESC | embryonic stem cell: | embryo |
50 | chr5:104434864-104434914 | BJ | skin: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:104482838..104485793-chr5:104489379..104492370,3 | MCF-7 | breast: | |
2 | chr5:104438251..104441149-chr5:104441695..104444269,2 | K562 | blood: | |
3 | chr5:104443161..104444832-chr5:104444978..104447101,2 | MCF-7 | breast: | |
4 | chr5:104454743..104457659-chr5:104458109..104460411,2 | MCF-7 | breast: | |
5 | chr5:104443161..104444832-chr5:104444978..104447101,2 | MCF-7 | breast: | |
6 | chr5:104454743..104457659-chr5:104458109..104460411,2 | MCF-7 | breast: | |
7 | chr5:104482838..104485793-chr5:104489379..104492370,3 | MCF-7 | breast: | |
8 | chr5:104423554..104425423-chr5:104426738..104428780,3 | K562 | blood: | |
9 | chr5:104438251..104441149-chr5:104441695..104444269,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-C5orf30-8 | chr5:104435174-104435799 | NONHSAT103096 |
2 | lnc-C5orf30-8 | chr5:104435175-104435799 | NR_000039 |
No data |
No data |
Variant related genes | Relation type |
---|---|
RAB9BP1 | TF binding region |
RAB9BP1 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs534437903 | chr5:104425548-104425549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs145530138 | chr5:104425576-104425577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs577512722 | chr5:104425579-104425580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs376692657 | chr5:104425597-104425598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs531559547 | chr5:104425601-104425602 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs6596599 | chr5:104425620-104425621 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs562880226 | chr5:104425628-104425629 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs576471801 | chr5:104425632-104425633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs147730772 | chr5:104425734-104425735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs188415001 | chr5:104425812-104425813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs142420486 | chr5:104425880-104425881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs527770474 | chr5:104425893-104425894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs546816047 | chr5:104425894-104425895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs560090052 | chr5:104425896-104425897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs150221500 | chr5:104426033-104426034 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs113636012 | chr5:104426034-104426035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs577480561 | chr5:104426051-104426052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs541717353 | chr5:104426061-104426062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs537474820 | chr5:104426062-104426063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs192890987 | chr5:104426092-104426093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs185388548 | chr5:104426113-104426114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs533646953 | chr5:104426117-104426118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs527972269 | chr5:104426129-104426130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs554346218 | chr5:104426153-104426154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs547613904 | chr5:104426196-104426197 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs72786025 | chr5:104426197-104426198 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs556869142 | chr5:104426253-104426254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs73194510 | chr5:104426282-104426283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs542279013 | chr5:104426298-104426299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs555470108 | chr5:104426318-104426319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs572549610 | chr5:104426348-104426349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs541122055 | chr5:104426356-104426357 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs145680414 | chr5:104426387-104426388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs148934334 | chr5:104426438-104426439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs545570035 | chr5:104426444-104426445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs73194512 | chr5:104426464-104426465 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs531491563 | chr5:104426476-104426477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs371773077 | chr5:104426477-104426478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs548214487 | chr5:104426500-104426501 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs567917098 | chr5:104426503-104426504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs568840557 | chr5:104426508-104426509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs527389827 | chr5:104426567-104426568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs547143354 | chr5:104426568-104426569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs571078770 | chr5:104426632-104426633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs143166363 | chr5:104426649-104426650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs148267445 | chr5:104426656-104426657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs570404445 | chr5:104426700-104426701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs115876704 | chr5:104426729-104426730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs555738856 | chr5:104426772-104426773 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs112817473 | chr5:104426867-104426868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Cancer | 16751803 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Lung cancer | 18438408 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Breast cancer | 21785460 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16573809 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
abnormal development | 18461090 | CNVD |
Colorectal cancer | 16774939 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Neurocytoma | 17123091 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 16608533 | CNVD |
Obesity | 20622171 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Schizophrenia | 23813976 | CNVD |
Lung cancer | 16773561 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:104425000-104428000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr5:104428000-104428200 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr5:104437400-104438000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
4 | chr5:104446800-104447200 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
5 | chr5:104451200-104451400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
6 | chr5:104453600-104455000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
7 | chr5:104459600-104460200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
8 | chr5:104468200-104468800 | Enhancers | Brain Germinal Matrix | brain |
9 | chr5:104469400-104470600 | Enhancers | Liver | Liver |
10 | chr5:104472600-104473200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
11 | chr5:104473200-104474200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
12 | chr5:104474200-104474400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
13 | chr5:104485600-104486600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
14 | chr5:104486000-104486600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
15 | chr5:104488800-104489000 | Enhancers | Fetal Lung | lung |
16 | chr5:104489000-104490800 | Weak transcription | Fetal Lung | lung |
17 | chr5:104490800-104491200 | ZNF genes & repeats | Fetal Lung | lung |
18 | chr5:104492600-104492800 | ZNF genes & repeats | Aorta | Aorta |
19 | chr5:104492800-104494200 | Weak transcription | Aorta | Aorta |
20 | chr5:104494000-104495600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |