Variant report
Variant | esv1825552 |
---|---|
Chromosome Location | chr6:132015084-132035688 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:317)
- CpG islands (count:184)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:132022490-132022540 | MCF10A-Er-Src | breast: | n/a |
2 | chr6:132022490-132022540 | MCF10A-Er-Src | breast: | n/a |
3 | chr6:132032407-132032457 | HNPCEpiC | eye: | n/a |
4 | chr6:132031294-132031344 | PFSK-1 | brain: | n/a |
5 | chr6:132031294-132031344 | NH-A | brain: | n/a |
6 | chr6:132031294-132031344 | CMK | blood: | n/a |
7 | chr6:132032407-132032457 | HEEpiC | esophagus: | n/a |
8 | chr6:132031294-132031344 | HCF | heart: | n/a |
9 | chr6:132022490-132022540 | AG10803 | skin: | n/a |
10 | chr6:132032407-132032457 | HCF | heart: | n/a |
11 | chr6:132022490-132022540 | HAEpiC | amniotic membrane: | n/a |
12 | chr6:132022490-132022540 | HIPEpiC | eye: | n/a |
13 | chr6:132032407-132032457 | BE2_C | brain: | n/a |
14 | chr6:132031294-132031344 | PANC-1 | pancreas: | n/a |
15 | chr6:132032407-132032457 | HCPEpiC | choroid plexus: | n/a |
16 | chr6:132032407-132032457 | SK-N-MC | brain: | n/a |
17 | chr6:132031294-132031344 | HL-60 | blood: | n/a |
18 | chr6:132032407-132032457 | MCF10A-Er-Src | breast: | n/a |
19 | chr6:132032407-132032457 | HRCEpiC | kidney: | n/a |
20 | chr6:132031294-132031344 | NB4 | blood: | n/a |
21 | chr6:132032407-132032457 | AG10803 | skin: | n/a |
22 | chr6:132022490-132022540 | SK-N-MC | brain: | n/a |
23 | chr6:132032407-132032457 | HCM | heart: | n/a |
24 | chr6:132022490-132022540 | Hepatocyte | liver: | n/a |
25 | chr6:132031294-132031344 | MCF-7 | breast: | n/a |
26 | chr6:132031294-132031344 | NHBE | bronchial: | n/a |
27 | chr6:132032407-132032457 | Hepatocyte | liver: | n/a |
28 | chr6:132031294-132031344 | AG10803 | skin: | n/a |
29 | chr6:132022490-132022540 | AoSMC | blood vessel: | n/a |
30 | chr6:132032407-132032457 | ovcar-3 | ovarian: | n/a |
31 | chr6:132022490-132022540 | Jurkat | blood: | n/a |
32 | chr6:132022490-132022540 | HEEpiC | esophagus: | n/a |
33 | chr6:132032407-132032457 | AoSMC | blood vessel: | n/a |
34 | chr6:132022490-132022540 | BE2_C | brain: | n/a |
35 | chr6:132022490-132022540 | PrEC | prostate: | n/a |
36 | chr6:132022490-132022540 | HPAEpiC | pulmonary alveolar: | n/a |
37 | chr6:132022490-132022540 | A549 | lung: | n/a |
38 | chr6:132022490-132022540 | HCM | heart: | n/a |
39 | chr6:132022490-132022540 | LNCaP | prostate: | n/a |
40 | chr6:132032407-132032457 | HL-60 | blood: | n/a |
41 | chr6:132032407-132032457 | HCT-116 | colon: | n/a |
42 | chr6:132032407-132032457 | GM12878 | blood: | n/a |
43 | chr6:132022490-132022540 | Hela-S3 | cervix: | n/a |
44 | chr6:132022490-132022540 | GM12892 | blood: | n/a |
45 | chr6:132022490-132022540 | HCPEpiC | choroid plexus: | n/a |
46 | chr6:132031294-132031344 | GM19239 | blood: | n/a |
47 | chr6:132022490-132022540 | H1-hESC | embryonic stem cell: | embryo |
48 | chr6:132031294-132031344 | Jurkat | blood: | n/a |
49 | chr6:132031294-132031344 | ProgFib | skin: | n/a |
50 | chr6:132031294-132031344 | HPAEpiC | pulmonary alveolar: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:132016067..132016631-chr6:132230809..132231697,2 | K562 | blood: | |
2 | chr6:132015065..132016761-chr6:132065945..132068393,2 | K562 | blood: | |
3 | chr6:131965455..131967671-chr6:132014535..132016282,2 | K562 | blood: | |
4 | chr6:132015771..132016655-chr6:132243782..132245174,3 | K562 | blood: | |
5 | chr6:132007332..132009041-chr6:132015162..132016904,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CTAGE9 | TF binding region |
OR2A4 | TF binding region |
CTAGE9 | CpG island |
OR2A4 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs577220613 | chr6:132015223-132015224 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs544691150 | chr6:132015253-132015254 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs556323770 | chr6:132015296-132015297 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs139887606 | chr6:132015312-132015313 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs79866819 | chr6:132015353-132015354 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs17060552 | chr6:132015357-132015358 | Weak transcription Enhancers Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs189130030 | chr6:132015372-132015373 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs545630836 | chr6:132015397-132015398 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs564299880 | chr6:132015398-132015399 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs17060555 | chr6:132015417-132015418 | Weak transcription Enhancers Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs549830305 | chr6:132015461-132015462 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs568474455 | chr6:132015467-132015468 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs529357015 | chr6:132015476-132015477 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs567994329 | chr6:132015504-132015505 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs75101122 | chr6:132015532-132015533 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs73552698 | chr6:132015549-132015550 | Weak transcription Enhancers Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs558126427 | chr6:132015581-132015582 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs567131800 | chr6:132015582-132015583 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs534396505 | chr6:132015631-132015632 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs550712171 | chr6:132015664-132015665 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs12204934 | chr6:132015672-132015673 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs539208328 | chr6:132015702-132015703 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs6907886 | chr6:132015729-132015730 | Weak transcription Enhancers Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs147694332 | chr6:132015745-132015746 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs556592661 | chr6:132015756-132015757 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs75828262 | chr6:132015790-132015791 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs555053621 | chr6:132015832-132015833 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs573622855 | chr6:132015848-132015849 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs145864833 | chr6:132015897-132015898 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs553653246 | chr6:132015898-132015899 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs367967154 | chr6:132015918-132015919 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs572051894 | chr6:132015928-132015929 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs9375821 | chr6:132015952-132015953 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs564157478 | chr6:132015970-132015971 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs9493056 | chr6:132015975-132015976 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs199645257 | chr6:132015995-132015996 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs10535185 | chr6:132015996-132015997 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs200935139 | chr6:132015999-132016000 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs201094056 | chr6:132016002-132016003 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs111442148 | chr6:132016006-132016007 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs111537943 | chr6:132016007-132016008 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs143896726 | chr6:132016008-132016009 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs58182629 | chr6:132016013-132016014 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs149014774 | chr6:132016176-132016177 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs371497547 | chr6:132016219-132016220 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs528908614 | chr6:132016360-132016361 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs547370514 | chr6:132016392-132016393 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs143438732 | chr6:132016396-132016397 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs572376836 | chr6:132016448-132016449 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs370702777 | chr6:132016461-132016462 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | 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 |
Autism | 22495311 | 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 |
Gastric cancer | 17908304 | 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 |
Wilms tumour | 21544195 | CNVD |
Acute lymphoblastic leukemia | 20067559 | 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 |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21785460 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Breast cancer | 17133270 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Leukemia | 18688285 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:131993600-132020600 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
2 | chr6:131998600-132054000 | Weak transcription | Fetal Intestine Small | intestine |
3 | chr6:131998800-132043000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
4 | chr6:131999200-132017600 | Weak transcription | Fetal Intestine Large | intestine |
5 | chr6:131999400-132020600 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
6 | chr6:132002600-132054400 | Weak transcription | K562 | blood |
7 | chr6:132012200-132017400 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
8 | chr6:132013600-132016200 | Enhancers | Primary B cells from cord blood | blood |
9 | chr6:132014200-132015800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
10 | chr6:132014400-132015200 | Enhancers | Liver | Liver |
11 | chr6:132014400-132015400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
12 | chr6:132014400-132015400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
13 | chr6:132014600-132015400 | Enhancers | Pancreatic Islets | Pancreatic Islet |
14 | chr6:132014600-132015600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
15 | chr6:132014600-132016000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
16 | chr6:132014600-132019400 | Strong transcription | HepG2 | liver |
17 | chr6:132014800-132015200 | Enhancers | H9 Cell Line | embryonic stem cell |
18 | chr6:132014800-132015600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
19 | chr6:132015200-132018400 | Weak transcription | H9 Cell Line | embryonic stem cell |
20 | chr6:132017400-132019400 | Strong transcription | Fetal Adrenal Gland | Adrenal Gland |
21 | chr6:132017600-132018000 | Enhancers | Placenta | Placenta |
22 | chr6:132017600-132019000 | Strong transcription | Fetal Intestine Large | intestine |
23 | chr6:132019000-132020800 | Weak transcription | Fetal Intestine Large | intestine |
24 | chr6:132019400-132040200 | Weak transcription | HepG2 | liver |
25 | chr6:132019400-132041400 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |