Variant report
Variant | nsv599237 |
---|---|
Chromosome Location | chr5:104426955-104504747 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:168)
- 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 | chr5:104435062-104435112 | NT2-D1 | testis: | n/a |
2 | chr5:104434864-104434914 | HIPEpiC | eye: | n/a |
3 | chr5:104435062-104435112 | ProgFib | skin: | n/a |
4 | chr5:104433849-104433899 | BE2_C | brain: | n/a |
5 | chr5:104435608-104435658 | GM12891 | blood: | n/a |
6 | chr5:104434864-104434914 | Jurkat | blood: | n/a |
7 | chr5:104434827-104434877 | AG04450 | lung: | fetal |
8 | chr5:104435608-104435658 | U87 | brain: | n/a |
9 | chr5:104433849-104433899 | SK-N-SH_RA | brain: | n/a |
10 | chr5:104435062-104435112 | NHDF-neo | bronchial: | n/a |
11 | chr5:104434864-104434914 | GM12892 | blood: | n/a |
12 | chr5:104434864-104434914 | AoSMC | blood vessel: | n/a |
13 | chr5:104435608-104435658 | T-47D | breast: | n/a |
14 | chr5:104435608-104435658 | SK-N-SH | brain: | n/a |
15 | chr5:104435608-104435658 | NH-A | brain: | n/a |
16 | chr5:104434864-104434914 | IMR90 | lung: | fetal |
17 | chr5:104433849-104433899 | HPAEpiC | pulmonary alveolar: | n/a |
18 | chr5:104434864-104434914 | AG04449 | skin: | fetal |
19 | chr5:104433849-104433899 | PANC-1 | pancreas: | n/a |
20 | chr5:104434864-104434914 | MCF-7 | breast: | n/a |
21 | chr5:104434864-104434914 | U87 | brain: | n/a |
22 | chr5:104433849-104433899 | HCT-116 | colon: | n/a |
23 | chr5:104434827-104434877 | AG10803 | skin: | n/a |
24 | chr5:104435062-104435112 | SAEC | small airway: | n/a |
25 | chr5:104434864-104434914 | NT2-D1 | testis: | n/a |
26 | chr5:104435062-104435112 | Jurkat | blood: | n/a |
27 | chr5:104433849-104433899 | SK-N-MC | brain: | n/a |
28 | chr5:104435608-104435658 | MCF10A-Er-Src | breast: | n/a |
29 | chr5:104434827-104434877 | SK-N-MC | brain: | n/a |
30 | chr5:104434827-104434877 | GM12891 | blood: | n/a |
31 | chr5:104435062-104435112 | HEEpiC | esophagus: | n/a |
32 | chr5:104433849-104433899 | GM12891 | blood: | n/a |
33 | chr5:104433849-104433899 | HRPEpiC | eye: | n/a |
34 | chr5:104434864-104434914 | ECC-1 | luminal epithelium: | n/a |
35 | chr5:104434864-104434914 | PFSK-1 | brain: | n/a |
36 | chr5:104434864-104434914 | NHBE | bronchial: | n/a |
37 | chr5:104434827-104434877 | GM19239 | blood: | n/a |
38 | chr5:104433849-104433899 | GM12892 | blood: | n/a |
39 | chr5:104434864-104434914 | HCT-116 | colon: | n/a |
40 | chr5:104433849-104433899 | SK-N-SH | brain: | n/a |
41 | chr5:104434827-104434877 | NT2-D1 | testis: | n/a |
42 | chr5:104433849-104433899 | CMK | blood: | n/a |
43 | chr5:104435062-104435112 | GM12892 | blood: | n/a |
44 | chr5:104435608-104435658 | HCT-116 | colon: | n/a |
45 | chr5:104433849-104433899 | AG10803 | skin: | n/a |
46 | chr5:104435062-104435112 | HCM | heart: | n/a |
47 | chr5:104433849-104433899 | Caco-2 | colon: | n/a |
48 | chr5:104433849-104433899 | BJ | skin: | n/a |
49 | chr5:104435062-104435112 | CMK | blood: | n/a |
50 | chr5:104435608-104435658 | HUVEC | blood vessel: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:104423554..104425423-chr5:104426738..104428780,3 | K562 | blood: | |
2 | chr5:104438251..104441149-chr5:104441695..104444269,2 | K562 | blood: | |
3 | chr5:104454743..104457659-chr5:104458109..104460411,2 | MCF-7 | breast: | |
4 | chr5:104443161..104444832-chr5:104444978..104447101,2 | MCF-7 | breast: | |
5 | chr5:104443161..104444832-chr5:104444978..104447101,2 | MCF-7 | breast: | |
6 | chr5:104482838..104485793-chr5:104489379..104492370,3 | MCF-7 | breast: | |
7 | chr5:104454743..104457659-chr5:104458109..104460411,2 | MCF-7 | breast: | |
8 | chr5:104482838..104485793-chr5:104489379..104492370,3 | MCF-7 | breast: | |
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 | rs4360015 | chr5:104426955-104426956 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs145442990 | chr5:104426982-104426983 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs11952778 | chr5:104427063-104427064 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs370036016 | chr5:104427119-104427120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs7732128 | chr5:104427125-104427126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs547274798 | chr5:104427127-104427128 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs113132616 | chr5:104427153-104427154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs533016745 | chr5:104427155-104427156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs550397796 | chr5:104427163-104427164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs563017780 | chr5:104427181-104427182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs190313965 | chr5:104427328-104427329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs536183204 | chr5:104427342-104427343 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs555766070 | chr5:104427366-104427367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs150542591 | chr5:104427390-104427391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs534726238 | chr5:104427423-104427424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs558094096 | chr5:104427428-104427429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs577721007 | chr5:104427432-104427433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs60447614 | chr5:104427443-104427444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs537145458 | chr5:104427450-104427451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs397998913 | chr5:104427451-104427452 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs555981310 | chr5:104427486-104427487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs527738845 | chr5:104427493-104427494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs531824107 | chr5:104427540-104427541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs78323627 | chr5:104427548-104427549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs35571400 | chr5:104427550-104427551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs192564547 | chr5:104427564-104427565 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs561856040 | chr5:104427569-104427570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs376779263 | chr5:104427600-104427601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs572269298 | chr5:104427639-104427640 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs540679153 | chr5:104427708-104427709 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs564021565 | chr5:104427728-104427729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs533104435 | chr5:104427730-104427731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs549890157 | chr5:104427731-104427732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs369372372 | chr5:104427759-104427760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs139445530 | chr5:104427766-104427767 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs529488355 | chr5:104427781-104427782 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs549523518 | chr5:104427802-104427803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs566254859 | chr5:104427803-104427804 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs535278136 | chr5:104427840-104427841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs547598517 | chr5:104427845-104427846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs571298565 | chr5:104427858-104427859 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs372879332 | chr5:104427859-104427860 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs183680637 | chr5:104427932-104427933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs116832236 | chr5:104427951-104427952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs535305538 | chr5:104427968-104427969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs188298011 | chr5:104428014-104428015 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs6596600 | chr5:104428031-104428032 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs181115970 | chr5:104428056-104428057 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs564109089 | chr5:104428063-104428064 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs577693316 | chr5:104428071-104428072 | ZNF genes & repeats | 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 |
21 | chr5:104503600-104504400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
22 | chr5:104503800-104504400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
23 | chr5:104503800-104504600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
24 | chr5:104503800-104504600 | Enhancers | Hela-S3 | cervix |
25 | chr5:104504400-104505400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |