Variant report
Variant | esv18993 |
---|---|
Chromosome Location | chr8:47750282-47776338 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:144)
- CpG islands (count:246)
- Chromatin interactive region (count:0)
- LncRNA region (count:79)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:47751494-47751544 | Hela-S3 | cervix: | n/a |
2 | chr8:47751494-47751544 | NHBE | bronchial: | n/a |
3 | chr8:47751494-47751544 | Hela-S3 | cervix: | n/a |
4 | chr8:47751494-47751544 | NHBE | bronchial: | n/a |
5 | chr8:47751623-47751673 | HRE | kidney: | n/a |
6 | chr8:47761906-47761956 | Jurkat | blood: | n/a |
7 | chr8:47751623-47751673 | HCF | heart: | n/a |
8 | chr8:47761906-47761956 | HL-60 | blood: | n/a |
9 | chr8:47761906-47761956 | PrEC | prostate: | n/a |
10 | chr8:47761906-47761956 | Hepatocyte | liver: | n/a |
11 | chr8:47751494-47751544 | A549 | lung: | n/a |
12 | chr8:47751623-47751673 | H1-hESC | embryonic stem cell: | embryo |
13 | chr8:47761906-47761956 | RPTEC | kidney: | n/a |
14 | chr8:47751494-47751544 | HRCEpiC | kidney: | n/a |
15 | chr8:47761906-47761956 | AG09309 | skin: | n/a |
16 | chr8:47751494-47751544 | HMEC | breast: | n/a |
17 | chr8:47751623-47751673 | GM06990 | blood: | n/a |
18 | chr8:47751494-47751544 | AG10803 | skin: | n/a |
19 | chr8:47751953-47752003 | ProgFib | skin: | n/a |
20 | chr8:47751623-47751673 | A549 | lung: | n/a |
21 | chr8:47751623-47751673 | NHBE | bronchial: | n/a |
22 | chr8:47751953-47752003 | MCF-7 | breast: | n/a |
23 | chr8:47751494-47751544 | HUVEC | blood vessel: | n/a |
24 | chr8:47751494-47751544 | T-47D | breast: | n/a |
25 | chr8:47751953-47752003 | SK-N-SH | brain: | n/a |
26 | chr8:47751623-47751673 | ovcar-3 | ovarian: | n/a |
27 | chr8:47751953-47752003 | SAEC | small airway: | n/a |
28 | chr8:47761906-47761956 | NT2-D1 | testis: | n/a |
29 | chr8:47751953-47752003 | GM19239 | blood: | n/a |
30 | chr8:47761906-47761956 | NHDF-neo | bronchial: | n/a |
31 | chr8:47751494-47751544 | AG09309 | skin: | n/a |
32 | chr8:47751953-47752003 | Hela-S3 | cervix: | n/a |
33 | chr8:47751623-47751673 | AG10803 | skin: | n/a |
34 | chr8:47751623-47751673 | SK-N-SH | brain: | n/a |
35 | chr8:47751623-47751673 | HIPEpiC | eye: | n/a |
36 | chr8:47751623-47751673 | HepG2 | liver: | n/a |
37 | chr8:47751953-47752003 | H1-hESC | embryonic stem cell: | embryo |
38 | chr8:47751953-47752003 | HCPEpiC | choroid plexus: | n/a |
39 | chr8:47751494-47751544 | HCM | heart: | n/a |
40 | chr8:47751494-47751544 | HAEpiC | amniotic membrane: | n/a |
41 | chr8:47751494-47751544 | HRPEpiC | eye: | n/a |
42 | chr8:47751953-47752003 | GM12891 | blood: | n/a |
43 | chr8:47751494-47751544 | AG04450 | lung: | fetal |
44 | chr8:47751953-47752003 | HIPEpiC | eye: | n/a |
45 | chr8:47751494-47751544 | HL-60 | blood: | n/a |
46 | chr8:47751623-47751673 | MCF10A-Er-Src | breast: | n/a |
47 | chr8:47751494-47751544 | AoSMC | blood vessel: | n/a |
48 | chr8:47751494-47751544 | IMR90 | lung: | fetal |
49 | chr8:47751623-47751673 | Caco-2 | colon: | n/a |
50 | chr8:47761906-47761956 | SK-N-SH_RA | brain: | n/a |
No data |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NONHSAT126415 |
2 | lnc-RP11-1134I14.8.1-3 | chr8:47762228-47762365 | NONHSAT126424 |
3 | lnc-RP11-1134I14.8.1-3 | chr8:47755811-47755918 | ENSG00000253314.1 |
4 | lnc-RP11-1134I14.8.1-3 | chr8:47761071-47761152 | NONHSAT126421 |
5 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | NR_027013 |
6 | lnc-RP11-1134I14.8.1-3 | chr8:47760896-47761152 | NONHSAT126423 |
7 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47761815 | NONHSAT126419 |
8 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
9 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47760523 | ENSG00000253314.1 |
10 | lnc-RP11-1134I14.8.1-3 | chr8:47752438-47752557 | ENSG00000253314.1 |
11 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | ENSG00000253314.1 |
12 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NR_027013 |
13 | lnc-RP11-1134I14.8.1-3 | chr8:47752486-47752557 | NONHSAT126419 |
14 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
15 | lnc-RP11-1134I14.8.1-3 | chr8:47761071-47761815 | NONHSAT126415 |
16 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | NONHSAT126419 |
17 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | ENSG00000253314.1 |
18 | lnc-RP11-350F16.2.1-4 | chr8:47749200-47750328 | NONHSAT126416 |
19 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765991 | NONHSAT126420 |
20 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765929 | NR_027013 |
21 | lnc-RP11-1134I14.8.1-3 | chr8:47766386-47767407 | NONHSAT126421 |
22 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | NONHSAT126420 |
23 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NONHSAT126420 |
24 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759688 | ENSG00000253314.1 |
25 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | NONHSAT126421 |
26 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | NR_027013 |
27 | lnc-RP11-1134I14.8.1-3 | chr8:47761071-47761152 | ENSG00000253314.1 |
28 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47760523 | NONHSAT126415 |
29 | lnc-RP11-1134I14.8.1-3 | chr8:47752517-47752557 | ENSG00000253314.1 |
30 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | ENSG00000253314.1 |
31 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | NONHSAT126421 |
32 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | ENSG00000253314.1 |
33 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NONHSAT126419 |
34 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47760523 | NONHSAT126421 |
35 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | ENSG00000253314.1 |
36 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | NONHSAT126420 |
37 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | ENSG00000253314.1 |
38 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | ENSG00000253314.1 |
39 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
40 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765991 | NONHSAT126423 |
41 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | NONHSAT126421 |
42 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NONHSAT126421 |
43 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | ENSG00000253314.1 |
44 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NONHSAT126421 |
45 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NR_027013 |
46 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | NONHSAT126420 |
47 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | ENSG00000253314.1 |
48 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | NR_027013 |
49 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | NONHSAT126419 |
50 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | NR_027013 |
No data |
No data |
Variant related genes | Relation type |
---|---|
MTND6P20 | TF binding region |
LINC00293 | TF binding region |
ENSG00000254118 | TF binding region |
MTND6P20 | CpG island |
LINC00293 | CpG island |
ENSG00000254118 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs571523769 | chr8:47750296-47750297 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs151257974 | chr8:47750326-47750327 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs557136926 | chr8:47750411-47750412 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs575738181 | chr8:47750418-47750419 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs536434043 | chr8:47750434-47750435 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs374970158 | chr8:47750472-47750473 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs193163705 | chr8:47750473-47750474 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
8 | rs555520144 | chr8:47750496-47750497 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs565249944 | chr8:47750511-47750512 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs35351797 | chr8:47750537-47750538 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs1380564 | chr8:47750538-47750539 | Inactive region | TF binding regionlncRNA | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
12 | rs184031582 | chr8:47750539-47750540 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs188764146 | chr8:47750549-47750550 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs530673909 | chr8:47750550-47750551 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs74437201 | chr8:47750586-47750587 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs71239879 | chr8:47750588-47750589 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs397700576 | chr8:47750591-47750592 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs549186898 | chr8:47750630-47750631 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs557742883 | chr8:47750674-47750675 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs561094766 | chr8:47750727-47750728 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs117596029 | chr8:47750728-47750729 | Inactive region | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs191343551 | chr8:47750890-47750891 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs551906588 | chr8:47750892-47750893 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs118158448 | chr8:47750999-47751000 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs556953511 | chr8:47751020-47751021 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs183923810 | chr8:47751035-47751036 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs75287549 | chr8:47751047-47751048 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs542379348 | chr8:47751088-47751089 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs536375191 | chr8:47751112-47751113 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs11994320 | chr8:47751125-47751126 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs112286882 | chr8:47751138-47751139 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs528526089 | chr8:47751160-47751161 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs190605632 | chr8:47751166-47751167 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs374713735 | chr8:47751410-47751411 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs556954559 | chr8:47751433-47751434 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs145138527 | chr8:47751448-47751449 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs542716760 | chr8:47751464-47751465 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs560981529 | chr8:47751484-47751485 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs528256074 | chr8:47751494-47751495 | ZNF genes & repeats Enhancers | CpG island | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs564986954 | chr8:47751495-47751496 | ZNF genes & repeats Enhancers | CpG island | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs146881571 | chr8:47751536-47751537 | ZNF genes & repeats Enhancers | TF binding regionCpG island | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs182334017 | chr8:47751624-47751625 | ZNF genes & repeats Enhancers | TF binding regionCpG island | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs532471076 | chr8:47751675-47751676 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs550677526 | chr8:47751702-47751703 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs569205880 | chr8:47751727-47751728 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs140741357 | chr8:47751754-47751755 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs187415289 | chr8:47751763-47751764 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs566626292 | chr8:47751766-47751767 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs189839174 | chr8:47751792-47751793 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs534125200 | chr8:47751807-47751808 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Lung cancer | 18438408 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Developmental delay | 21373258 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
abnormal development | 18461090 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Cancer | 20164920 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Oral cancer | 21386901 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 20409316 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:47751400-47752000 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
2 | chr8:47751400-47753800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr8:47753200-47753800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
4 | chr8:47754000-47755000 | Enhancers | Placenta | Placenta |
5 | chr8:47755000-47757000 | Weak transcription | Placenta | Placenta |
6 | chr8:47757000-47758200 | Enhancers | Placenta | Placenta |
7 | chr8:47758200-47759400 | Weak transcription | Placenta | Placenta |
8 | chr8:47759200-47761400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
9 | chr8:47760000-47760400 | Active TSS | Fetal Heart | heart |
10 | chr8:47761400-47762000 | Weak transcription | Placenta | Placenta |
11 | chr8:47762000-47763400 | Enhancers | Placenta | Placenta |
12 | chr8:47763400-47767400 | Weak transcription | Placenta | Placenta |
13 | chr8:47764200-47764400 | Bivalent Enhancer | HUES6 Cell Line | embryonic stem cell |
14 | chr8:47765200-47765400 | Flanking Bivalent TSS/Enh | HUES6 Cell Line | embryonic stem cell |
15 | chr8:47767400-47767800 | Enhancers | Placenta | Placenta |