Variant report
Variant | nsv1016571 |
---|---|
Chromosome Location | chr8:47751577-47797723 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:171)
- CpG islands (count:184)
- Chromatin interactive region (count:0)
- LncRNA region (count:77)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:47761906-47761956 | Hela-S3 | cervix: | n/a |
2 | chr8:47761906-47761956 | Hela-S3 | cervix: | n/a |
3 | chr8:47751953-47752003 | SKMC | muscle: | n/a |
4 | chr8:47751953-47752003 | HNPCEpiC | eye: | n/a |
5 | chr8:47751953-47752003 | Hepatocyte | liver: | n/a |
6 | chr8:47751623-47751673 | AG10803 | skin: | n/a |
7 | chr8:47751623-47751673 | PFSK-1 | brain: | n/a |
8 | chr8:47751623-47751673 | HRPEpiC | eye: | n/a |
9 | chr8:47751623-47751673 | GM19239 | blood: | n/a |
10 | chr8:47751953-47752003 | MCF-7 | breast: | n/a |
11 | chr8:47761906-47761956 | HNPCEpiC | eye: | n/a |
12 | chr8:47751953-47752003 | HIPEpiC | eye: | n/a |
13 | chr8:47751623-47751673 | HIPEpiC | eye: | n/a |
14 | chr8:47761906-47761956 | HEEpiC | esophagus: | n/a |
15 | chr8:47751953-47752003 | BE2_C | brain: | n/a |
16 | chr8:47751623-47751673 | Jurkat | blood: | n/a |
17 | chr8:47751953-47752003 | PFSK-1 | brain: | n/a |
18 | chr8:47751953-47752003 | AG09319 | gingival: | n/a |
19 | chr8:47761906-47761956 | GM12878 | blood: | n/a |
20 | chr8:47751623-47751673 | SK-N-MC | brain: | n/a |
21 | chr8:47761906-47761956 | HUVEC | blood vessel: | n/a |
22 | chr8:47751623-47751673 | HEEpiC | esophagus: | n/a |
23 | chr8:47761906-47761956 | HAEpiC | amniotic membrane: | n/a |
24 | chr8:47751623-47751673 | BJ | skin: | n/a |
25 | chr8:47751623-47751673 | HPAEpiC | pulmonary alveolar: | n/a |
26 | chr8:47761906-47761956 | Caco-2 | colon: | n/a |
27 | chr8:47751623-47751673 | HepG2 | liver: | n/a |
28 | chr8:47751953-47752003 | HL-60 | blood: | n/a |
29 | chr8:47751953-47752003 | IMR90 | lung: | fetal |
30 | chr8:47751953-47752003 | A549 | lung: | n/a |
31 | chr8:47751623-47751673 | PrEC | prostate: | n/a |
32 | chr8:47761906-47761956 | SK-N-MC | brain: | n/a |
33 | chr8:47761906-47761956 | SKMC | muscle: | n/a |
34 | chr8:47751953-47752003 | SAEC | small airway: | n/a |
35 | chr8:47751953-47752003 | CMK | blood: | n/a |
36 | chr8:47751623-47751673 | GM12878 | blood: | n/a |
37 | chr8:47761906-47761956 | GM12892 | blood: | n/a |
38 | chr8:47751623-47751673 | CMK | blood: | n/a |
39 | chr8:47751953-47752003 | AG10803 | skin: | n/a |
40 | chr8:47751953-47752003 | LNCaP | prostate: | n/a |
41 | chr8:47761906-47761956 | K562 | blood: | n/a |
42 | chr8:47751953-47752003 | NHBE | bronchial: | n/a |
43 | chr8:47751623-47751673 | AoSMC | blood vessel: | n/a |
44 | chr8:47751953-47752003 | Jurkat | blood: | n/a |
45 | chr8:47751953-47752003 | HAEpiC | amniotic membrane: | n/a |
46 | chr8:47761906-47761956 | HCPEpiC | choroid plexus: | n/a |
47 | chr8:47751953-47752003 | SK-N-SH | brain: | n/a |
48 | chr8:47751953-47752003 | AG04449 | skin: | fetal |
49 | chr8:47761906-47761956 | IMR90 | lung: | fetal |
50 | chr8:47761906-47761956 | HCM | heart: | n/a |
No data |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765929 | ENSG00000253314.1 |
2 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | ENSG00000253314.1 |
3 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NONHSAT126421 |
4 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765991 | NONHSAT126423 |
5 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | ENSG00000253314.1 |
6 | lnc-RP11-1134I14.8.1-3 | chr8:47766386-47766763 | NONHSAT126424 |
7 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47761152 | ENSG00000253314.1 |
8 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | NONHSAT126423 |
9 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
10 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NR_027013 |
11 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | NONHSAT126420 |
12 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765991 | NONHSAT126421 |
13 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | ENSG00000253314.1 |
14 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | ENSG00000253314.1 |
15 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | NONHSAT126421 |
16 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | NR_027013 |
17 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | NONHSAT126419 |
18 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759631 | ENSG00000253314.1 |
19 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765991 | NONHSAT126420 |
20 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
21 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | ENSG00000253314.1 |
22 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47760523 | NONHSAT126415 |
23 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47761152 | NR_027013 |
24 | lnc-RP11-1134I14.8.1-3 | chr8:47766092-47766220 | NONHSAT126423 |
25 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47761152 | NONHSAT126420 |
26 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759688 | ENSG00000253314.1 |
27 | lnc-RP11-1134I14.8.1-3 | chr8:47761071-47761152 | NONHSAT126421 |
28 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NONHSAT126419 |
29 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NR_027013 |
30 | lnc-RP11-1134I14.8.1-3 | chr8:47766386-47767407 | NONHSAT126421 |
31 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NONHSAT126420 |
32 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | ENSG00000253314.1 |
33 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | NONHSAT126420 |
34 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NONHSAT126415 |
35 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
36 | lnc-RP11-1134I14.8.1-3 | chr8:47752517-47752557 | ENSG00000253314.1 |
37 | lnc-RP11-1134I14.8.1-3 | chr8:47761071-47761815 | NONHSAT126415 |
38 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | NONHSAT126420 |
39 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | ENSG00000253314.1 |
40 | lnc-RP11-1134I14.8.1-3 | chr8:47766092-47766216 | NONHSAT126424 |
41 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47760523 | NONHSAT126421 |
42 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | NR_027013 |
43 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765833 | ENSG00000253314.1 |
44 | lnc-RP11-1134I14.8.1-3 | chr8:47762228-47762365 | NONHSAT126424 |
45 | lnc-RP11-1134I14.8.1-3 | chr8:47752438-47752557 | ENSG00000253314.1 |
46 | lnc-RP11-1134I14.8.1-3 | chr8:47752497-47752557 | ENSG00000253314.1 |
47 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | NR_027013 |
48 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NONHSAT126420 |
49 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | NONHSAT126415 |
50 | lnc-RP11-1134I14.8.1-3 | chr8:47766092-47766216 | NONHSAT126421 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000253803 | TF binding region |
LINC00293 | TF binding region |
ENSG00000254118 | TF binding region |
ENSG00000253803 | 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 | rs182334017 | chr8:47751624-47751625 | ZNF genes & repeats Enhancers | TF binding regionCpG island | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs532471076 | chr8:47751675-47751676 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs550677526 | chr8:47751702-47751703 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs569205880 | chr8:47751727-47751728 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs140741357 | chr8:47751754-47751755 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs187415289 | chr8:47751763-47751764 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs566626292 | chr8:47751766-47751767 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs189839174 | chr8:47751792-47751793 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs534125200 | chr8:47751807-47751808 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs181598011 | chr8:47751812-47751813 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs369029842 | chr8:47751832-47751833 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs185368521 | chr8:47751873-47751874 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs144603025 | chr8:47751890-47751891 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs190231018 | chr8:47751940-47751941 | ZNF genes & repeats Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs182165140 | chr8:47751953-47751954 | ZNF genes & repeats Enhancers | TF binding regionCpG island | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs530792379 | chr8:47751954-47751955 | ZNF genes & repeats Enhancers | TF binding regionCpG island | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs36108918 | chr8:47751978-47751979 | ZNF genes & repeats Enhancers | TF binding regionCpG island | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs28675351 | chr8:47751993-47751994 | ZNF genes & repeats Enhancers | TF binding regionCpG island | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs554659843 | chr8:47752029-47752030 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs573013111 | chr8:47752033-47752034 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs540412068 | chr8:47752126-47752127 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs565116324 | chr8:47752127-47752128 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs528927841 | chr8:47752132-47752133 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs544458094 | chr8:47752186-47752187 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs116358189 | chr8:47752221-47752222 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs529987695 | chr8:47752228-47752229 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs548223125 | chr8:47752230-47752231 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs566619562 | chr8:47752231-47752232 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs35582933 | chr8:47752236-47752237 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs397807189 | chr8:47752237-47752238 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs201903494 | chr8:47752238-47752239 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs148201310 | chr8:47752272-47752273 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs548513591 | chr8:47752323-47752324 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs112589316 | chr8:47752401-47752402 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
35 | rs530336057 | chr8:47752411-47752412 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs150327651 | chr8:47752438-47752439 | Enhancers | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs538072487 | chr8:47752472-47752473 | Enhancers | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs550409025 | chr8:47752473-47752474 | Enhancers | TF binding regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs568774594 | chr8:47752562-47752563 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs115734684 | chr8:47752564-47752565 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs186133978 | chr8:47752579-47752580 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs556412985 | chr8:47752605-47752606 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs369926360 | chr8:47752638-47752639 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs572952143 | chr8:47752698-47752699 | Enhancers | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs533857787 | chr8:47752712-47752713 | Enhancers | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs191037530 | chr8:47752730-47752731 | Enhancers | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs138018772 | chr8:47752782-47752783 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs143630631 | chr8:47752785-47752786 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs562437692 | chr8:47752818-47752819 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs574430902 | chr8:47752830-47752831 | Enhancers | TF binding region | 1 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 |
16 | chr8:47780000-47781800 | ZNF genes & repeats | Adipose Nuclei | Adipose |