Variant report
Variant | nsv599233 |
---|---|
Chromosome Location | chr5:104424956-104494294 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:139)
- CpG islands (count:305)
- Chromatin interactive region (count:10)
- 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 | NT2-D1 | testis: | n/a |
2 | chr5:104434827-104434877 | HEEpiC | esophagus: | n/a |
3 | chr5:104433849-104433899 | HNPCEpiC | eye: | n/a |
4 | chr5:104435062-104435112 | T-47D | breast: | n/a |
5 | chr5:104433849-104433899 | CMK | blood: | n/a |
6 | chr5:104434827-104434877 | IMR90 | lung: | fetal |
7 | chr5:104434827-104434877 | HRCEpiC | kidney: | n/a |
8 | chr5:104435608-104435658 | HEK293 | kidney: | embryo |
9 | chr5:104435062-104435112 | NHDF-neo | bronchial: | n/a |
10 | chr5:104433849-104433899 | LNCaP | prostate: | n/a |
11 | chr5:104435608-104435658 | GM12892 | blood: | n/a |
12 | chr5:104435608-104435658 | AG09319 | gingival: | n/a |
13 | chr5:104435062-104435112 | RPTEC | kidney: | n/a |
14 | chr5:104433849-104433899 | NB4 | blood: | n/a |
15 | chr5:104433849-104433899 | PANC-1 | pancreas: | n/a |
16 | chr5:104435608-104435658 | HPAEpiC | pulmonary alveolar: | n/a |
17 | chr5:104434827-104434877 | HepG2 | liver: | n/a |
18 | chr5:104434827-104434877 | MCF-7 | breast: | n/a |
19 | chr5:104435608-104435658 | GM12878 | blood: | n/a |
20 | chr5:104435608-104435658 | HNPCEpiC | eye: | n/a |
21 | chr5:104434827-104434877 | Jurkat | blood: | n/a |
22 | chr5:104434827-104434877 | AG10803 | skin: | n/a |
23 | chr5:104434827-104434877 | AG04449 | skin: | fetal |
24 | chr5:104435062-104435112 | A549 | lung: | n/a |
25 | chr5:104434864-104434914 | AG04449 | skin: | fetal |
26 | chr5:104433849-104433899 | ECC-1 | luminal epithelium: | n/a |
27 | chr5:104434827-104434877 | Caco-2 | colon: | n/a |
28 | chr5:104435608-104435658 | RPTEC | kidney: | n/a |
29 | chr5:104435062-104435112 | HCF | heart: | n/a |
30 | chr5:104433849-104433899 | SK-N-SH | brain: | n/a |
31 | chr5:104434864-104434914 | ProgFib | skin: | n/a |
32 | chr5:104435608-104435658 | ovcar-3 | ovarian: | n/a |
33 | chr5:104435062-104435112 | HCPEpiC | choroid plexus: | n/a |
34 | chr5:104435608-104435658 | HepG2 | liver: | n/a |
35 | chr5:104434827-104434877 | HPAEpiC | pulmonary alveolar: | n/a |
36 | chr5:104434864-104434914 | PANC-1 | pancreas: | n/a |
37 | chr5:104433849-104433899 | Hela-S3 | cervix: | n/a |
38 | chr5:104435062-104435112 | HNPCEpiC | eye: | n/a |
39 | chr5:104434864-104434914 | SK-N-SH | brain: | n/a |
40 | chr5:104435062-104435112 | AG10803 | skin: | n/a |
41 | chr5:104435608-104435658 | PFSK-1 | brain: | n/a |
42 | chr5:104435062-104435112 | HCT-116 | colon: | n/a |
43 | chr5:104435062-104435112 | U87 | brain: | n/a |
44 | chr5:104435062-104435112 | HCM | heart: | n/a |
45 | chr5:104433849-104433899 | PFSK-1 | brain: | n/a |
46 | chr5:104434864-104434914 | NH-A | brain: | n/a |
47 | chr5:104434827-104434877 | HMEC | breast: | n/a |
48 | chr5:104434864-104434914 | CMK | blood: | n/a |
49 | chr5:104433849-104433899 | HCM | heart: | n/a |
50 | chr5:104435062-104435112 | ProgFib | skin: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:104454743..104457659-chr5:104458109..104460411,2 | MCF-7 | breast: | |
2 | chr5:104443161..104444832-chr5:104444978..104447101,2 | MCF-7 | breast: | |
3 | chr5:104443161..104444832-chr5:104444978..104447101,2 | MCF-7 | breast: | |
4 | chr5:104423554..104425423-chr5:104426738..104428780,3 | K562 | blood: | |
5 | chr5:104438251..104441149-chr5:104441695..104444269,2 | K562 | blood: | |
6 | chr5:104438251..104441149-chr5:104441695..104444269,2 | K562 | blood: | |
7 | chr5:104423554..104425423-chr5:104426738..104428780,3 | K562 | blood: | |
8 | chr5:104482838..104485793-chr5:104489379..104492370,3 | MCF-7 | breast: | |
9 | chr5:104454743..104457659-chr5:104458109..104460411,2 | MCF-7 | breast: | |
10 | chr5:104482838..104485793-chr5:104489379..104492370,3 | MCF-7 | breast: |
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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 | rs10038726 | chr5:104424956-104424957 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs540590030 | chr5:104424957-104424958 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs10035820 | chr5:104424968-104424969 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs554633913 | chr5:104424993-104424994 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs561848264 | chr5:104424999-104425000 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs186735498 | chr5:104425036-104425037 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs10050446 | chr5:104425043-104425044 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs531845825 | chr5:104425085-104425086 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs548662662 | chr5:104425186-104425187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs561082686 | chr5:104425233-104425234 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs140231585 | chr5:104425270-104425271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs546458608 | chr5:104425275-104425276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs111968642 | chr5:104425277-104425278 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs538550389 | chr5:104425278-104425279 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs537457564 | chr5:104425284-104425285 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs551804975 | chr5:104425317-104425318 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs191502845 | chr5:104425326-104425327 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs537560888 | chr5:104425376-104425377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs184028994 | chr5:104425509-104425510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs554212922 | chr5:104425512-104425513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs574425378 | chr5:104425520-104425521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs534437903 | chr5:104425548-104425549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs145530138 | chr5:104425576-104425577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs577512722 | chr5:104425579-104425580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs376692657 | chr5:104425597-104425598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs531559547 | chr5:104425601-104425602 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs6596599 | chr5:104425620-104425621 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs562880226 | chr5:104425628-104425629 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs576471801 | chr5:104425632-104425633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs147730772 | chr5:104425734-104425735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs188415001 | chr5:104425812-104425813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs142420486 | chr5:104425880-104425881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs527770474 | chr5:104425893-104425894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs546816047 | chr5:104425894-104425895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs560090052 | chr5:104425896-104425897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs150221500 | chr5:104426033-104426034 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs113636012 | chr5:104426034-104426035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs577480561 | chr5:104426051-104426052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs541717353 | chr5:104426061-104426062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs537474820 | chr5:104426062-104426063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs192890987 | chr5:104426092-104426093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs185388548 | chr5:104426113-104426114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs533646953 | chr5:104426117-104426118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs527972269 | chr5:104426129-104426130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs554346218 | chr5:104426153-104426154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs547613904 | chr5:104426196-104426197 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs72786025 | chr5:104426197-104426198 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs556869142 | chr5:104426253-104426254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs73194510 | chr5:104426282-104426283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs542279013 | chr5:104426298-104426299 | 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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:104423600-104425000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr5:104425000-104428000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr5:104428000-104428200 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin03 | Skin |
4 | chr5:104437400-104438000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
5 | chr5:104446800-104447200 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
6 | chr5:104451200-104451400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
7 | chr5:104453600-104455000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
8 | chr5:104459600-104460200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
9 | chr5:104468200-104468800 | Enhancers | Brain Germinal Matrix | brain |
10 | chr5:104469400-104470600 | Enhancers | Liver | Liver |
11 | chr5:104472600-104473200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
12 | chr5:104473200-104474200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
13 | chr5:104474200-104474400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
14 | chr5:104485600-104486600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
15 | chr5:104486000-104486600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
16 | chr5:104488800-104489000 | Enhancers | Fetal Lung | lung |
17 | chr5:104489000-104490800 | Weak transcription | Fetal Lung | lung |
18 | chr5:104490800-104491200 | ZNF genes & repeats | Fetal Lung | lung |
19 | chr5:104492600-104492800 | ZNF genes & repeats | Aorta | Aorta |
20 | chr5:104492800-104494200 | Weak transcription | Aorta | Aorta |
21 | chr5:104494000-104495600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |