Variant report
Variant | esv999906 |
---|---|
Chromosome Location | chr6:109584769-109588060 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:6 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:109572844..109579013-chr6:109586013..109590515,6 | MCF-7 | breast: | |
2 | chr6:109578534..109581492-chr6:109583225..109585725,2 | K562 | blood: | |
3 | chr6:109580166..109583539-chr6:109585250..109587755,3 | MCF-7 | breast: | |
4 | chr6:109586422..109588540-chr6:109591361..109594071,2 | MCF-7 | breast: | |
5 | chr6:109586028..109588133-chr6:109739017..109740783,2 | K562 | blood: | |
6 | chr6:109586366..109589239-chr6:109589741..109593458,3 | K562 | blood: |
No data |
No data |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs76226461 | chr6:109584782-109584783 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs141675877 | chr6:109584789-109584790 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs143756739 | chr6:109584817-109584818 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs34921854 | chr6:109584835-109584836 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs369541194 | chr6:109584860-109584861 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs183184727 | chr6:109584877-109584878 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs6899616 | chr6:109584885-109584886 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs553298649 | chr6:109584941-109584942 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs9384702 | chr6:109584988-109584989 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs545326712 | chr6:109584990-109584991 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs186039131 | chr6:109584996-109584997 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs575476507 | chr6:109585031-109585032 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs544744396 | chr6:109585085-109585086 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs190519754 | chr6:109585117-109585118 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs565757019 | chr6:109585203-109585204 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs76583920 | chr6:109585213-109585214 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs2356726 | chr6:109585228-109585229 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs552569003 | chr6:109585233-109585234 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs200601198 | chr6:109585240-109585241 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs532130860 | chr6:109585245-109585246 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs536467542 | chr6:109585255-109585256 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs71699954 | chr6:109585270-109585271 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs78229736 | chr6:109585276-109585277 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs372308769 | chr6:109585287-109585288 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs201881391 | chr6:109585289-109585290 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs375581690 | chr6:109585295-109585296 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs376391549 | chr6:109585296-109585297 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs68158827 | chr6:109585298-109585299 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs71015581 | chr6:109585318-109585319 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs569170785 | chr6:109585331-109585332 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs184103240 | chr6:109585400-109585401 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs548327228 | chr6:109585508-109585509 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs567671127 | chr6:109585542-109585543 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs188605915 | chr6:109585606-109585607 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs7743328 | chr6:109585611-109585612 | Weak transcription Enhancers Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs4427037 | chr6:109585612-109585613 | Weak transcription Enhancers Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs538641895 | chr6:109585616-109585617 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs558824991 | chr6:109585624-109585625 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs34734001 | chr6:109585642-109585643 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs397825385 | chr6:109585645-109585646 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs115908257 | chr6:109585657-109585658 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs192714891 | chr6:109585669-109585670 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs182560376 | chr6:109585700-109585701 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs574912669 | chr6:109585781-109585782 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs187164094 | chr6:109585834-109585835 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs560280537 | chr6:109585856-109585857 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs75375558 | chr6:109585858-109585859 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs545769092 | chr6:109585924-109585925 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs562782741 | chr6:109585947-109585948 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs949883 | chr6:109585987-109585988 | Weak transcription Enhancers Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Autism | 22495311 | CNVD |
Gastric cancer | 17908304 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Ependymoma | 16718352 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 16272173 | CNVD |
Prostate cancer | 18632612 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Wilms tumour | 21544195 | CNVD |
Leukemia | 18688285 | CNVD |
Prostate cancer | 19242612 | CNVD |
Glioma | 21046410 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Zellweger syndrome | 21572526 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Malignant melanoma | 18718029 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21858162 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Chondromyxoid Fibroma | 20696777 | CNVD |
Cancer | 21183584 | CNVD |
Developmental delay | 19490664 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Prostate cancer | 16573809 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21785460 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Prostate cancer | 16461572 | CNVD |
Neurocytoma | 17123091 | CNVD |
Cancer | 20164920 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Chronic lymphocytic leukemia | 17805327 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Autism | 17483303 | CNVD |
Chordoma | 21602918 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
abnormal development | 18461090 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Systemic lupus erythematosus | 19220326 | CNVD |
Cancer | 17160897 | CNVD |
Autism | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Acute lymphoblastic leukemia | 17229543 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17133270 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Mental retardation | 17621639 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:109564000-109590400 | Weak transcription | Psoas Muscle | Psoas |
2 | chr6:109572800-109590400 | Weak transcription | H9 Cell Line | embryonic stem cell |
3 | chr6:109572800-109595200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
4 | chr6:109573200-109589800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
5 | chr6:109573600-109590200 | Weak transcription | Gastric | stomach |
6 | chr6:109575800-109589200 | Weak transcription | Pancreas | Pancrea |
7 | chr6:109581800-109588800 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
8 | chr6:109583000-109587600 | Strong transcription | HepG2 | liver |
9 | chr6:109583400-109587200 | Weak transcription | Adipose Nuclei | Adipose |
10 | chr6:109583400-109587600 | Strong transcription | Placenta | Placenta |
11 | chr6:109583400-109590400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
12 | chr6:109583600-109590200 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
13 | chr6:109583600-109590400 | Weak transcription | H1 Cell Line | embryonic stem cell |
14 | chr6:109583600-109591400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
15 | chr6:109583800-109590400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
16 | chr6:109584800-109585400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
17 | chr6:109585000-109586600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
18 | chr6:109585200-109586800 | Enhancers | K562 | blood |
19 | chr6:109585400-109585600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
20 | chr6:109585400-109585800 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
21 | chr6:109585600-109586600 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
22 | chr6:109585800-109587200 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
23 | chr6:109586600-109587600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
24 | chr6:109587200-109587400 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
25 | chr6:109587600-109590200 | Weak transcription | Placenta | Placenta |
26 | chr6:109587600-109614600 | Weak transcription | HepG2 | liver |