Variant report
Variant | esv3516883 |
---|---|
Chromosome Location | chr5:104431403-104504701 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:159)
- CpG islands (count:305)
- Chromatin interactive region (count:8)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:104435608-104435658 | HUVEC | blood vessel: | n/a |
2 | chr5:104433849-104433899 | ovcar-3 | ovarian: | n/a |
3 | chr5:104433849-104433899 | AG09319 | gingival: | n/a |
4 | chr5:104434827-104434877 | HPAEpiC | pulmonary alveolar: | n/a |
5 | chr5:104435608-104435658 | NB4 | blood: | n/a |
6 | chr5:104435608-104435658 | NH-A | brain: | n/a |
7 | chr5:104434864-104434914 | Hepatocyte | liver: | n/a |
8 | chr5:104434827-104434877 | U87 | brain: | n/a |
9 | chr5:104435608-104435658 | Hepatocyte | liver: | n/a |
10 | chr5:104434827-104434877 | HCPEpiC | choroid plexus: | n/a |
11 | chr5:104433849-104433899 | T-47D | breast: | n/a |
12 | chr5:104435062-104435112 | HCF | heart: | n/a |
13 | chr5:104433849-104433899 | AG04450 | lung: | fetal |
14 | chr5:104434827-104434877 | NHBE | bronchial: | n/a |
15 | chr5:104434864-104434914 | U87 | brain: | n/a |
16 | chr5:104433849-104433899 | GM19239 | blood: | n/a |
17 | chr5:104434864-104434914 | HNPCEpiC | eye: | n/a |
18 | chr5:104433849-104433899 | AoSMC | blood vessel: | n/a |
19 | chr5:104433849-104433899 | GM12878 | blood: | n/a |
20 | chr5:104434864-104434914 | HIPEpiC | eye: | n/a |
21 | chr5:104434827-104434877 | HUVEC | blood vessel: | n/a |
22 | chr5:104435062-104435112 | HAEpiC | amniotic membrane: | n/a |
23 | chr5:104434864-104434914 | NT2-D1 | testis: | n/a |
24 | chr5:104434864-104434914 | HRE | kidney: | n/a |
25 | chr5:104435062-104435112 | Caco-2 | colon: | n/a |
26 | chr5:104433849-104433899 | Hela-S3 | cervix: | n/a |
27 | chr5:104434827-104434877 | HRE | kidney: | n/a |
28 | chr5:104435062-104435112 | NHDF-neo | bronchial: | n/a |
29 | chr5:104434864-104434914 | AoSMC | blood vessel: | n/a |
30 | chr5:104434864-104434914 | Caco-2 | colon: | n/a |
31 | chr5:104433849-104433899 | SK-N-SH | brain: | n/a |
32 | chr5:104435062-104435112 | GM19239 | blood: | n/a |
33 | chr5:104433849-104433899 | K562 | blood: | n/a |
34 | chr5:104435062-104435112 | Jurkat | blood: | n/a |
35 | chr5:104435608-104435658 | PFSK-1 | brain: | n/a |
36 | chr5:104435608-104435658 | HCPEpiC | choroid plexus: | n/a |
37 | chr5:104435608-104435658 | NHDF-neo | bronchial: | n/a |
38 | chr5:104435608-104435658 | HCM | heart: | n/a |
39 | chr5:104434864-104434914 | NHDF-neo | bronchial: | n/a |
40 | chr5:104434827-104434877 | GM19239 | blood: | n/a |
41 | chr5:104435062-104435112 | AG09309 | skin: | n/a |
42 | chr5:104435062-104435112 | BE2_C | brain: | n/a |
43 | chr5:104435062-104435112 | NHBE | bronchial: | n/a |
44 | chr5:104434827-104434877 | SK-N-SH | brain: | n/a |
45 | chr5:104433849-104433899 | PFSK-1 | brain: | n/a |
46 | chr5:104435062-104435112 | GM12891 | blood: | n/a |
47 | chr5:104435062-104435112 | SAEC | small airway: | n/a |
48 | chr5:104435608-104435658 | ProgFib | skin: | n/a |
49 | chr5:104434864-104434914 | HL-60 | blood: | n/a |
50 | chr5:104435608-104435658 | IMR90 | lung: | fetal |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:104438251..104441149-chr5:104441695..104444269,2 | K562 | blood: | |
2 | chr5:104454743..104457659-chr5:104458109..104460411,2 | MCF-7 | breast: | |
3 | chr5:104482838..104485793-chr5:104489379..104492370,3 | MCF-7 | breast: | |
4 | chr5:104443161..104444832-chr5:104444978..104447101,2 | MCF-7 | breast: | |
5 | chr5:104454743..104457659-chr5:104458109..104460411,2 | MCF-7 | breast: | |
6 | chr5:104438251..104441149-chr5:104441695..104444269,2 | K562 | blood: | |
7 | chr5:104482838..104485793-chr5:104489379..104492370,3 | MCF-7 | breast: | |
8 | chr5:104443161..104444832-chr5:104444978..104447101,2 | 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 | rs374724911 | chr5:104432107-104432108 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs10057612 | chr5:104432111-104432112 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs555600852 | chr5:104432146-104432147 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs546966782 | chr5:104432177-104432178 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs568787140 | chr5:104432184-104432185 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs530605715 | chr5:104433849-104433850 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs556107057 | chr5:104433850-104433851 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs35236313 | chr5:104433872-104433873 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs77308345 | chr5:104433882-104433883 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs78241771 | chr5:104433883-104433884 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs59899617 | chr5:104433884-104433885 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs12188361 | chr5:104433885-104433886 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs75300601 | chr5:104433889-104433890 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs528484481 | chr5:104434143-104434144 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs551321946 | chr5:104434158-104434159 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs528553596 | chr5:104434164-104434165 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs141228676 | chr5:104434176-104434177 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs537551295 | chr5:104434193-104434194 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs550131897 | chr5:104434205-104434206 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs144811796 | chr5:104434886-104434887 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs6867650 | chr5:104434905-104434906 | Inactive region | CpG island | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs558290687 | chr5:104435069-104435070 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs370709411 | chr5:104435097-104435098 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs535654178 | chr5:104435099-104435100 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs536616860 | chr5:104435179-104435180 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
26 | rs557038797 | chr5:104435180-104435181 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
27 | rs192568215 | chr5:104435218-104435219 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
28 | rs543209502 | chr5:104435224-104435225 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
29 | rs148531807 | chr5:104435237-104435238 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
30 | rs573243211 | chr5:104435252-104435253 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs184856961 | chr5:104435255-104435256 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs564964702 | chr5:104435262-104435263 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs113754985 | chr5:104435271-104435272 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs188741095 | chr5:104435322-104435323 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs554567220 | chr5:104435325-104435326 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
36 | rs530089782 | chr5:104435326-104435327 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs549244157 | chr5:104435336-104435337 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
38 | rs565868782 | chr5:104435347-104435348 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
39 | rs534946537 | chr5:104435350-104435351 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
40 | rs4571441 | chr5:104435376-104435377 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs571419725 | chr5:104435424-104435425 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
42 | rs537062033 | chr5:104435446-104435447 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
43 | rs556638665 | chr5:104435483-104435484 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
44 | rs112353592 | chr5:104435498-104435499 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
45 | rs573727244 | chr5:104435499-104435500 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
46 | rs142876485 | chr5:104435512-104435513 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
47 | rs146533723 | chr5:104435514-104435515 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
48 | rs553186467 | chr5:104435515-104435516 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
49 | rs552576861 | chr5:104435533-104435534 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
50 | rs181452503 | chr5:104435588-104435589 | Inactive region | lncRNA | 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 | chr5:104437400-104438000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
2 | chr5:104446800-104447200 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
3 | chr5:104451200-104451400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
4 | chr5:104453600-104455000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
5 | chr5:104459600-104460200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
6 | chr5:104468200-104468800 | Enhancers | Brain Germinal Matrix | brain |
7 | chr5:104469400-104470600 | Enhancers | Liver | Liver |
8 | chr5:104472600-104473200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
9 | chr5:104473200-104474200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
10 | chr5:104474200-104474400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
11 | chr5:104485600-104486600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
12 | chr5:104486000-104486600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
13 | chr5:104488800-104489000 | Enhancers | Fetal Lung | lung |
14 | chr5:104489000-104490800 | Weak transcription | Fetal Lung | lung |
15 | chr5:104490800-104491200 | ZNF genes & repeats | Fetal Lung | lung |
16 | chr5:104492600-104492800 | ZNF genes & repeats | Aorta | Aorta |
17 | chr5:104492800-104494200 | Weak transcription | Aorta | Aorta |
18 | chr5:104494000-104495600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
19 | chr5:104503600-104504400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
20 | chr5:104503800-104504400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
21 | chr5:104503800-104504600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
22 | chr5:104503800-104504600 | Enhancers | Hela-S3 | cervix |
23 | chr5:104504400-104505400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |