Variant report
Variant | nsv466683 |
---|---|
Chromosome Location | chr1:189698614-189737389 |
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 | chr1:189705156..189706947-chr1:189708552..189710958,2 | K562 | blood: | |
2 | chr1:189709848..189710556-chr1:189743646..189744501,3 | MCF-7 | breast: | |
3 | chr1:189705345..189707314-chr1:189708117..189710746,3 | MCF-7 | breast: | |
4 | chr1:189705156..189706947-chr1:189708552..189710958,2 | K562 | blood: | |
5 | chr1:189625524..189628069-chr1:189701890..189703665,2 | MCF-7 | breast: | |
6 | chr1:189705345..189707314-chr1:189708117..189710746,3 | MCF-7 | breast: |
No data |
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No data |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs573140979 | chr1:189720601-189720602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs80001584 | chr1:189720647-189720648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs558782303 | chr1:189720660-189720661 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs374865761 | chr1:189720670-189720671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs577955118 | chr1:189720765-189720766 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs188315819 | chr1:189720792-189720793 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs114323314 | chr1:189720832-189720833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs569510345 | chr1:189720857-189720858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs542519628 | chr1:189720921-189720922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs536872109 | chr1:189720926-189720927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs559333309 | chr1:189721015-189721016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs35037402 | chr1:189721020-189721021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs397982357 | chr1:189721021-189721022 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs200369523 | chr1:189721042-189721043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs371316466 | chr1:189721049-189721050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs528051691 | chr1:189721104-189721105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs79172661 | chr1:189721115-189721116 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs193184064 | chr1:189721130-189721131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs144685573 | chr1:189721164-189721165 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs376703998 | chr1:189721200-189721201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs183867830 | chr1:189721243-189721244 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs569407752 | chr1:189721402-189721403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs530361302 | chr1:189721478-189721479 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs546957543 | chr1:189721506-189721507 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs375290358 | chr1:189721629-189721630 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs566906364 | chr1:189721768-189721769 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs147617086 | chr1:189721786-189721787 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs10800627 | chr1:189721806-189721807 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs142120935 | chr1:189721846-189721847 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs187913855 | chr1:189721847-189721848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs150179180 | chr1:189721871-189721872 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs201980294 | chr1:189721878-189721879 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs573863441 | chr1:189721931-189721932 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs542934394 | chr1:189721951-189721952 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs552988576 | chr1:189721952-189721953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs574357445 | chr1:189721967-189721968 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs371308141 | chr1:189721970-189721971 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs572835157 | chr1:189721995-189721996 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs553655263 | chr1:189722066-189722067 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs10737561 | chr1:189722078-189722079 | Flanking Active TSS Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs530586721 | chr1:189722094-189722095 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs138639855 | chr1:189722108-189722109 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs543888527 | chr1:189722117-189722118 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs561175818 | chr1:189722118-189722119 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs192530620 | chr1:189722135-189722136 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs541895782 | chr1:189722136-189722137 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs183465451 | chr1:189722141-189722142 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs532797012 | chr1:189722195-189722196 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs188238628 | chr1:189722220-189722221 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs569238142 | chr1:189722234-189722235 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Autism | 22495311 | CNVD |
Liposarcoma | 21253554 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Rett syndrome | 21593744 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21509527 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Melanoma | 20688739 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21611746 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Breast cancer | 17393978 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Breast cancer | 17899364 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Mental retardation | 17847001 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:189720600-189720800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
2 | chr1:189720800-189721600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
3 | chr1:189721600-189722400 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
4 | chr1:189721600-189722600 | Enhancers | Fetal Heart | heart |
5 | chr1:189721600-189723000 | Enhancers | Fetal Lung | lung |
6 | chr1:189721800-189722000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr1:189722000-189722600 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
8 | chr1:189722000-189722600 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
9 | chr1:189722400-189723000 | Enhancers | Hela-S3 | cervix |
10 | chr1:189722600-189722800 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
11 | chr1:189733200-189734200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
12 | chr1:189733400-189734000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
13 | chr1:189733400-189734000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
14 | chr1:189733400-189734400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |