Variant report
Variant | nsv962985 |
---|---|
Chromosome Location | chr19:40220376-40228783 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:29)
- CpG islands (count:61)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:29 , 50 per page) page:
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No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:40227949-40227999 | AoSMC | blood vessel: | n/a |
2 | chr19:40227949-40227999 | GM12892 | blood: | n/a |
3 | chr19:40227949-40227999 | Jurkat | blood: | n/a |
4 | chr19:40227949-40227999 | HRPEpiC | eye: | n/a |
5 | chr19:40227949-40227999 | HRCEpiC | kidney: | n/a |
6 | chr19:40227949-40227999 | PrEC | prostate: | n/a |
7 | chr19:40227949-40227999 | HepG2 | liver: | n/a |
8 | chr19:40227949-40227999 | GM12891 | blood: | n/a |
9 | chr19:40227949-40227999 | Caco-2 | colon: | n/a |
10 | chr19:40227949-40227999 | PFSK-1 | brain: | n/a |
11 | chr19:40227949-40227999 | NHBE | bronchial: | n/a |
12 | chr19:40227949-40227999 | IMR90 | lung: | fetal |
13 | chr19:40227949-40227999 | HNPCEpiC | eye: | n/a |
14 | chr19:40227949-40227999 | ovcar-3 | ovarian: | n/a |
15 | chr19:40227949-40227999 | HRE | kidney: | n/a |
16 | chr19:40227949-40227999 | ProgFib | skin: | n/a |
17 | chr19:40227949-40227999 | HCM | heart: | n/a |
18 | chr19:40227949-40227999 | AG09319 | gingival: | n/a |
19 | chr19:40227949-40227999 | HCPEpiC | choroid plexus: | n/a |
20 | chr19:40227949-40227999 | NT2-D1 | testis: | n/a |
21 | chr19:40227949-40227999 | LNCaP | prostate: | n/a |
22 | chr19:40227949-40227999 | MCF-7 | breast: | n/a |
23 | chr19:40227949-40227999 | HUVEC | blood vessel: | n/a |
24 | chr19:40227949-40227999 | RPTEC | kidney: | n/a |
25 | chr19:40227949-40227999 | SAEC | small airway: | n/a |
26 | chr19:40227949-40227999 | AG09309 | skin: | n/a |
27 | chr19:40227949-40227999 | SKMC | muscle: | n/a |
28 | chr19:40227949-40227999 | HEEpiC | esophagus: | n/a |
29 | chr19:40227949-40227999 | HCF | heart: | n/a |
30 | chr19:40227949-40227999 | AG04450 | lung: | fetal |
31 | chr19:40227949-40227999 | NHDF-neo | bronchial: | n/a |
32 | chr19:40227949-40227999 | ECC-1 | luminal epithelium: | n/a |
33 | chr19:40227949-40227999 | GM12878 | blood: | n/a |
34 | chr19:40227949-40227999 | HIPEpiC | eye: | n/a |
35 | chr19:40227949-40227999 | U87 | brain: | n/a |
36 | chr19:40227949-40227999 | AG04449 | skin: | fetal |
37 | chr19:40227949-40227999 | HL-60 | blood: | n/a |
38 | chr19:40227949-40227999 | HPAEpiC | pulmonary alveolar: | n/a |
39 | chr19:40227949-40227999 | HAEpiC | amniotic membrane: | n/a |
40 | chr19:40227949-40227999 | H1-hESC | embryonic stem cell: | embryo |
41 | chr19:40227949-40227999 | Hepatocyte | liver: | n/a |
42 | chr19:40227949-40227999 | GM06990 | blood: | n/a |
43 | chr19:40227949-40227999 | T-47D | breast: | n/a |
44 | chr19:40227949-40227999 | SK-N-SH_RA | brain: | n/a |
45 | chr19:40227949-40227999 | BJ | skin: | n/a |
46 | chr19:40227949-40227999 | NB4 | blood: | n/a |
47 | chr19:40227949-40227999 | SK-N-SH | brain: | n/a |
48 | chr19:40227949-40227999 | A549 | lung: | n/a |
49 | chr19:40227949-40227999 | PANC-1 | pancreas: | n/a |
50 | chr19:40227949-40227999 | BE2_C | brain: | n/a |
(count:2 , 50 per page) page:
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CLC | TF binding region |
CLC | CpG island |
ENSG00000105205 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs73559703 | chr19:40220406-40220407 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs538154284 | chr19:40220426-40220427 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs425218 | chr19:40220428-40220429 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs532670146 | chr19:40220452-40220453 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs577582837 | chr19:40220456-40220457 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs386809205 | chr19:40220494-40220495 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs112101798 | chr19:40220495-40220496 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs425265 | chr19:40220496-40220497 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs544238659 | chr19:40220501-40220502 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs147784400 | chr19:40220585-40220586 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs142618277 | chr19:40220591-40220592 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs562525583 | chr19:40220614-40220615 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs570916002 | chr19:40220683-40220684 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs190758341 | chr19:40220701-40220702 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs543760527 | chr19:40220703-40220704 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs565152078 | chr19:40220763-40220764 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs414423 | chr19:40220764-40220765 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs551780791 | chr19:40220765-40220766 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs566743077 | chr19:40220769-40220770 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs7248344 | chr19:40220813-40220814 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs8101720 | chr19:40220816-40220817 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs35837917 | chr19:40220879-40220880 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs538017120 | chr19:40220906-40220907 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs144963244 | chr19:40220926-40220927 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs550046833 | chr19:40221010-40221011 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs375315853 | chr19:40221015-40221016 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs147921660 | chr19:40221026-40221027 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs183225611 | chr19:40221027-40221028 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs186204704 | chr19:40221034-40221035 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs571903625 | chr19:40221072-40221073 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs77636567 | chr19:40221075-40221076 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs398101213 | chr19:40221076-40221077 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs371280749 | chr19:40221085-40221086 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs431329 | chr19:40221107-40221108 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs191499096 | chr19:40221152-40221153 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs576319334 | chr19:40221155-40221156 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs543676202 | chr19:40221224-40221225 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs564908593 | chr19:40221237-40221238 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs532477432 | chr19:40221291-40221292 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs141772290 | chr19:40221292-40221293 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs367715676 | chr19:40221305-40221306 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs150415914 | chr19:40221317-40221318 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs527652362 | chr19:40221346-40221347 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs428007 | chr19:40221367-40221368 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
45 | rs138223861 | chr19:40221389-40221390 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs182350585 | chr19:40221391-40221392 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs186683917 | chr19:40221422-40221423 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs375320386 | chr19:40221437-40221438 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs539326488 | chr19:40221441-40221442 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs149175153 | chr19:40221464-40221465 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Myelodysplastic syndrome | 17634407 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Cancer | 20164919 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 22495311 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Congenital nephrotic syndrome | 18421352 | CNVD |
Astrocytoma | 17934521 | CNVD |
Leukemia | 17361228 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioma | 21971842 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
renal disease | 20603712 | CNVD |
Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 21364760 | CNVD |
Invasive pancreatic ductal carcinoma | 18765526 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Chordoma | 18071362 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Wilms tumour | 21544195 | CNVD |
Mental retardation | 19951919 | CNVD |
19q13.11 deletion syndrome | 22378287 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 21045282 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Lung cancer | 21569311 | CNVD |
Bladder cancer | 21909424 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Gastric cancer | 18160780 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 19029149 | CNVD |
Breast cancer | 20409316 | CNVD |
Diffuse large b-cell lymphoma | 19029149 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:40219200-40221800 | Weak transcription | GM12878-XiMat | blood |
2 | chr19:40219200-40225200 | Weak transcription | Placenta | Placenta |
3 | chr19:40221800-40222200 | Enhancers | GM12878-XiMat | blood |
4 | chr19:40222000-40222600 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
5 | chr19:40222200-40225600 | Weak transcription | GM12878-XiMat | blood |
6 | chr19:40224600-40226600 | Active TSS | Rectal Mucosa Donor 29 | rectum |
7 | chr19:40225200-40226000 | Enhancers | Placenta | Placenta |
8 | chr19:40225600-40229400 | Enhancers | GM12878-XiMat | blood |
9 | chr19:40226000-40228600 | Weak transcription | Placenta | Placenta |
10 | chr19:40226000-40228800 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
11 | chr19:40226200-40229200 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
12 | chr19:40226400-40227000 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
13 | chr19:40226400-40228200 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
14 | chr19:40226600-40227800 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
15 | chr19:40226800-40228800 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
16 | chr19:40227000-40227400 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
17 | chr19:40227400-40228200 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
18 | chr19:40227800-40228200 | Active TSS | Rectal Mucosa Donor 29 | rectum |
19 | chr19:40227800-40229600 | Enhancers | Primary T helper cells fromperipheralblood | blood |
20 | chr19:40228000-40228200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
21 | chr19:40228000-40228400 | Active TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
22 | chr19:40228200-40229000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
23 | chr19:40228200-40229000 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
24 | chr19:40228600-40230200 | Enhancers | Primary neutrophils fromperipheralblood | blood |