Variant report
Variant | esv2544302 |
---|---|
Chromosome Location | chr1:174436200-174437515 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:174419001..174421193-chr1:174434649..174437565,2 | K562 | blood: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs145972720 | chr1:174436202-174436203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs183343581 | chr1:174436214-174436215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs550949904 | chr1:174436242-174436243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs542241578 | chr1:174436271-174436272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs562469070 | chr1:174436276-174436277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs576077931 | chr1:174436345-174436346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs545048255 | chr1:174436357-174436358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs564779935 | chr1:174436409-174436410 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs138789855 | chr1:174436410-174436411 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs547317627 | chr1:174436433-174436434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs142762325 | chr1:174436437-174436438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs74126810 | chr1:174436442-174436443 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs386636916 | chr1:174436443-174436444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs112962560 | chr1:174436444-174436445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs10912790 | chr1:174436445-174436446 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs530260076 | chr1:174436452-174436453 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs552692938 | chr1:174436464-174436465 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs566321921 | chr1:174436482-174436483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs147372126 | chr1:174436535-174436536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs532821147 | chr1:174436538-174436539 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs76799253 | chr1:174436550-174436551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs77848887 | chr1:174436584-174436585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs73040875 | chr1:174436671-174436672 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs535716951 | chr1:174436672-174436673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs537721264 | chr1:174436680-174436681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs566688186 | chr1:174436740-174436741 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs188848003 | chr1:174436742-174436743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs192675291 | chr1:174436753-174436754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs115353047 | chr1:174436766-174436767 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs554690307 | chr1:174436789-174436790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs564616879 | chr1:174436816-174436817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs183829714 | chr1:174436824-174436825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs540844560 | chr1:174436831-174436832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs187025227 | chr1:174436832-174436833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs529951474 | chr1:174436846-174436847 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs550005257 | chr1:174436862-174436863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs114210071 | chr1:174436917-174436918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs116456827 | chr1:174436938-174436939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs191159178 | chr1:174436956-174436957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs566161047 | chr1:174436987-174436988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs535086210 | chr1:174437010-174437011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs574556555 | chr1:174437051-174437052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs558829997 | chr1:174437088-174437089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs76682486 | chr1:174437089-174437090 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs115618365 | chr1:174437135-174437136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs537384505 | chr1:174437195-174437196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs557631610 | chr1:174437234-174437235 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs569009745 | chr1:174437255-174437256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs537745184 | chr1:174437289-174437290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs569579018 | chr1:174437317-174437318 | Weak transcription | 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 |
Hepatocellular carcinoma | 16750200 | CNVD |
Liposarcoma | 21253554 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21183584 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Rett syndrome | 21593744 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Non-small cell lung cancer | 21829676 | 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 |
Bladder cancer | 19088036 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Retinoblastoma | 19183342 | 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 |
Chordoma | 18071362 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Burkitt''s lymphoma | 19759907 | 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 |
Trisomy 5 syndrome | 21098271 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Developmental delay | 21147756 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Breast cancer | 21509527 | CNVD |
Glioblastoma multiforme | 17369134 | CNVD |
Cancer | 17440070 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 21611746 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Schizophrenia | 20838587 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Breast cancer | 22522925 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Autism | 22241247 | CNVD |
Breast cancer | 16397240 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:174381200-174438800 | Weak transcription | Primary B cells from cord blood | blood |
2 | chr1:174415400-174444800 | Weak transcription | Aorta | Aorta |
3 | chr1:174417800-174440800 | Weak transcription | GM12878-XiMat | blood |
4 | chr1:174418000-174439000 | Weak transcription | Left Ventricle | heart |
5 | chr1:174418000-174440000 | Weak transcription | Primary B cells from peripheral blood | blood |
6 | chr1:174430800-174445800 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
7 | chr1:174437400-174439400 | Enhancers | Fetal Heart | heart |