Variant report
Variant | nsv983153 |
---|---|
Chromosome Location | chr11:59197223-59222105 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:236)
- CpG islands (count:305)
- 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 | chr11:59209775-59209825 | K562 | blood: | n/a |
2 | chr11:59211431-59211481 | HNPCEpiC | eye: | n/a |
3 | chr11:59211431-59211481 | NHDF-neo | bronchial: | n/a |
4 | chr11:59211431-59211481 | CMK | blood: | n/a |
5 | chr11:59209775-59209825 | HPAEpiC | pulmonary alveolar: | n/a |
6 | chr11:59209777-59209827 | ovcar-3 | ovarian: | n/a |
7 | chr11:59209777-59209827 | SK-N-MC | brain: | n/a |
8 | chr11:59210634-59210684 | IMR90 | lung: | fetal |
9 | chr11:59209775-59209825 | NHBE | bronchial: | n/a |
10 | chr11:59209777-59209827 | HRCEpiC | kidney: | n/a |
11 | chr11:59209775-59209825 | HEEpiC | esophagus: | n/a |
12 | chr11:59209777-59209827 | HRPEpiC | eye: | n/a |
13 | chr11:59210965-59211015 | GM12892 | blood: | n/a |
14 | chr11:59210634-59210684 | GM12878 | blood: | n/a |
15 | chr11:59210965-59211015 | H1-hESC | embryonic stem cell: | embryo |
16 | chr11:59211431-59211481 | AoSMC | blood vessel: | n/a |
17 | chr11:59209775-59209825 | HMEC | breast: | n/a |
18 | chr11:59209775-59209825 | ECC-1 | luminal epithelium: | n/a |
19 | chr11:59210634-59210684 | GM12891 | blood: | n/a |
20 | chr11:59211431-59211481 | BJ | skin: | n/a |
21 | chr11:59210634-59210684 | AG04449 | skin: | fetal |
22 | chr11:59210965-59211015 | AG09309 | skin: | n/a |
23 | chr11:59211431-59211481 | T-47D | breast: | n/a |
24 | chr11:59211431-59211481 | ProgFib | skin: | n/a |
25 | chr11:59210965-59211015 | NB4 | blood: | n/a |
26 | chr11:59210965-59211015 | NT2-D1 | testis: | n/a |
27 | chr11:59211431-59211481 | NHBE | bronchial: | n/a |
28 | chr11:59211431-59211481 | K562 | blood: | n/a |
29 | chr11:59210965-59211015 | A549 | lung: | n/a |
30 | chr11:59211431-59211481 | GM12878 | blood: | n/a |
31 | chr11:59210965-59211015 | K562 | blood: | n/a |
32 | chr11:59209775-59209825 | AG09309 | skin: | n/a |
33 | chr11:59209775-59209825 | PrEC | prostate: | n/a |
34 | chr11:59209777-59209827 | HEK293 | kidney: | embryo |
35 | chr11:59210965-59211015 | AG10803 | skin: | n/a |
36 | chr11:59209775-59209825 | GM06990 | blood: | n/a |
37 | chr11:59210965-59211015 | GM12878 | blood: | n/a |
38 | chr11:59210634-59210684 | GM12892 | blood: | n/a |
39 | chr11:59210965-59211015 | GM19239 | blood: | n/a |
40 | chr11:59210965-59211015 | HCM | heart: | n/a |
41 | chr11:59210965-59211015 | ECC-1 | luminal epithelium: | n/a |
42 | chr11:59209775-59209825 | HIPEpiC | eye: | n/a |
43 | chr11:59210634-59210684 | Hela-S3 | cervix: | n/a |
44 | chr11:59209777-59209827 | PFSK-1 | brain: | n/a |
45 | chr11:59209777-59209827 | HRE | kidney: | n/a |
46 | chr11:59209775-59209825 | Jurkat | blood: | n/a |
47 | chr11:59210634-59210684 | HCPEpiC | choroid plexus: | n/a |
48 | chr11:59210634-59210684 | AoSMC | blood vessel: | n/a |
49 | chr11:59211431-59211481 | HepG2 | liver: | n/a |
50 | chr11:59210634-59210684 | GM06990 | blood: | n/a |
(count:5 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:58938648..58939562-chr11:59197080..59198004,4 | K562 | blood: | |
2 | chr11:59197459..59198444-chr11:59447527..59448507,2 | K562 | blood: | |
3 | chr11:59179256..59181467-chr11:59196867..59199078,2 | K562 | blood: | |
4 | chr11:58939392..58941354-chr11:59196194..59199151,2 | MCF-7 | breast: | |
5 | chr11:58974195..58974699-chr11:59197155..59197818,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
OR4D6 | TF binding region |
OR5A1 | TF binding region |
OR4D6 | CpG island |
OR5A1 | CpG island |
ENSG00000110042 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs530782950 | chr11:59197223-59197224 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs552167484 | chr11:59197230-59197231 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs138180335 | chr11:59197236-59197237 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs142618325 | chr11:59197260-59197261 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs146914469 | chr11:59197303-59197304 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs190642253 | chr11:59197321-59197322 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs139212528 | chr11:59197348-59197349 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs542036785 | chr11:59197349-59197350 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs550668664 | chr11:59197388-59197389 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs35864967 | chr11:59197440-59197441 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs568989838 | chr11:59197442-59197443 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs539401114 | chr11:59197549-59197550 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs545104892 | chr11:59197569-59197570 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs183171424 | chr11:59197639-59197640 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs529269409 | chr11:59197771-59197772 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs566507001 | chr11:59197827-59197828 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs555474757 | chr11:59197842-59197843 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs188930292 | chr11:59197895-59197896 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs369941979 | chr11:59197910-59197911 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs116040682 | chr11:59197956-59197957 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs7932858 | chr11:59197967-59197968 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs143211705 | chr11:59197979-59197980 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs572038155 | chr11:59197984-59197985 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs190868191 | chr11:59197988-59197989 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs564612675 | chr11:59198046-59198047 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs182576281 | chr11:59198173-59198174 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs77984521 | chr11:59198208-59198209 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs188142130 | chr11:59198233-59198234 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs562040197 | chr11:59198254-59198255 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs529047444 | chr11:59198265-59198266 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs550807215 | chr11:59198304-59198305 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs191834274 | chr11:59198361-59198362 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs184293744 | chr11:59198363-59198364 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs371698848 | chr11:59198370-59198371 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs373088487 | chr11:59198378-59198379 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs551538863 | chr11:59198392-59198393 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs35385729 | chr11:59198404-59198405 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs12364419 | chr11:59198453-59198454 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs143913250 | chr11:59198545-59198546 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs371867193 | chr11:59198549-59198550 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs566326807 | chr11:59198562-59198563 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs533808926 | chr11:59198585-59198586 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs553363169 | chr11:59198672-59198673 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs568750711 | chr11:59198677-59198678 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs535611698 | chr11:59198719-59198720 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs557134194 | chr11:59198723-59198724 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs575474515 | chr11:59198757-59198758 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs61901576 | chr11:59198771-59198772 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs558259919 | chr11:59198805-59198806 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs187442389 | chr11:59198822-59198823 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Wilms tumour | 21544195 | CNVD |
Autism | 22495311 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 21637783 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Oral cancer | 21386901 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 20837533 | CNVD |
Breast cancer | 21264507 | CNVD |
Cervical cancer | 21063398 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Liposarcoma | 21253554 | CNVD |
Neuroblastoma | 18923524 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Pituitary adenoma | 18645599 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 18632612 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Smith-Lemli-Opitz syndrome | 21572526 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Cancer | 16751803 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495309 | CNVD |
Autism | 20808228 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:59194800-59199000 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
2 | chr11:59197200-59197400 | Enhancers | Primary B cells from cord blood | blood |
3 | chr11:59199000-59199400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
4 | chr11:59205200-59205800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr11:59207800-59208200 | Enhancers | Primary monocytes fromperipheralblood | blood |
6 | chr11:59208000-59208200 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
7 | chr11:59208000-59208400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
8 | chr11:59211000-59211600 | Active TSS | Brain Substantia Nigra | brain |
9 | chr11:59219400-59219600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
10 | chr11:59219600-59220800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
11 | chr11:59220800-59221000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |