Variant report
Variant | nsv553223 |
---|---|
Chromosome Location | chr11:5116128-5149332 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:355)
- CpG islands (count:184)
- Chromatin interactive region (count:33)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:5144101-5144151 | HL-60 | blood: | n/a |
2 | chr11:5144101-5144151 | HL-60 | blood: | n/a |
3 | chr11:5144101-5144151 | HepG2 | liver: | n/a |
4 | chr11:5144101-5144151 | Caco-2 | colon: | n/a |
5 | chr11:5144101-5144151 | GM12878 | blood: | n/a |
6 | chr11:5144101-5144151 | H1-hESC | embryonic stem cell: | embryo |
7 | chr11:5142602-5142652 | HCT-116 | colon: | n/a |
8 | chr11:5142602-5142652 | T-47D | breast: | n/a |
9 | chr11:5142602-5142652 | IMR90 | lung: | fetal |
10 | chr11:5142602-5142652 | HCPEpiC | choroid plexus: | n/a |
11 | chr11:5144101-5144151 | PFSK-1 | brain: | n/a |
12 | chr11:5143555-5143605 | HRE | kidney: | n/a |
13 | chr11:5142602-5142652 | HPAEpiC | pulmonary alveolar: | n/a |
14 | chr11:5142602-5142652 | HEK293 | kidney: | embryo |
15 | chr11:5143555-5143605 | MCF-7 | breast: | n/a |
16 | chr11:5142602-5142652 | AoSMC | blood vessel: | n/a |
17 | chr11:5142602-5142652 | AG09319 | gingival: | n/a |
18 | chr11:5144101-5144151 | LNCaP | prostate: | n/a |
19 | chr11:5142602-5142652 | HMEC | breast: | n/a |
20 | chr11:5144101-5144151 | HMEC | breast: | n/a |
21 | chr11:5144101-5144151 | HIPEpiC | eye: | n/a |
22 | chr11:5144101-5144151 | HNPCEpiC | eye: | n/a |
23 | chr11:5144101-5144151 | HCF | heart: | n/a |
24 | chr11:5142602-5142652 | ovcar-3 | ovarian: | n/a |
25 | chr11:5144101-5144151 | A549 | lung: | n/a |
26 | chr11:5142602-5142652 | ProgFib | skin: | n/a |
27 | chr11:5143555-5143605 | NHBE | bronchial: | n/a |
28 | chr11:5144101-5144151 | NH-A | brain: | n/a |
29 | chr11:5142602-5142652 | BE2_C | brain: | n/a |
30 | chr11:5142602-5142652 | H1-hESC | embryonic stem cell: | embryo |
31 | chr11:5144101-5144151 | HCT-116 | colon: | n/a |
32 | chr11:5144101-5144151 | HAEpiC | amniotic membrane: | n/a |
33 | chr11:5143555-5143605 | NB4 | blood: | n/a |
34 | chr11:5142602-5142652 | A549 | lung: | n/a |
35 | chr11:5142602-5142652 | GM12892 | blood: | n/a |
36 | chr11:5144101-5144151 | MCF10A-Er-Src | breast: | n/a |
37 | chr11:5143555-5143605 | SK-N-SH | brain: | n/a |
38 | chr11:5144101-5144151 | SAEC | small airway: | n/a |
39 | chr11:5142602-5142652 | HCM | heart: | n/a |
40 | chr11:5142602-5142652 | RPTEC | kidney: | n/a |
41 | chr11:5143555-5143605 | HL-60 | blood: | n/a |
42 | chr11:5142602-5142652 | AG04449 | skin: | fetal |
43 | chr11:5144101-5144151 | HCM | heart: | n/a |
44 | chr11:5142602-5142652 | Jurkat | blood: | n/a |
45 | chr11:5143555-5143605 | RPTEC | kidney: | n/a |
46 | chr11:5143555-5143605 | PrEC | prostate: | n/a |
47 | chr11:5144101-5144151 | IMR90 | lung: | fetal |
48 | chr11:5143555-5143605 | ProgFib | skin: | n/a |
49 | chr11:5143555-5143605 | PANC-1 | pancreas: | n/a |
50 | chr11:5144101-5144151 | Hela-S3 | cervix: | n/a |
(count:33 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | 11:5137223-5140360..11:5714465-5718134 | K562 | blood: | |
2 | 11:5137223-5140360..11:5566274-5571131 | Hela-S3 | cervix: | |
3 | 11:5137223-5140360..11:5533869-5541626 | GM12878 | blood: | |
4 | 11:5137223-5140360..11:5505728-5514500 | Hela-S3 | cervix: | |
5 | chr11:5145054..5145634-chr11:5391106..5391649,2 | K562 | blood: | |
6 | 11:5137223-5140360..11:5243048-5250847 | GM12878 | blood: | |
7 | chr11:5125985..5128240-chr11:5524056..5525592,2 | K562 | blood: | |
8 | chr11:5138070..5140863-chr11:5316692..5319201,2 | K562 | blood: | |
9 | 11:5134474-5137223..11:5505728-5514500 | Hela-S3 | cervix: | |
10 | 11:5134474-5137223..11:5721056-5732713 | H1-hESC | embryonic stem cell: | embryo |
11 | chr11:5107926..5109438-chr11:5115922..5117651,2 | K562 | blood: | |
12 | chr11:5149232..5151969-chr11:5305732..5307416,2 | K562 | blood: | |
13 | chr11:5138048..5140738-chr11:5144465..5146975,2 | K562 | blood: | |
14 | 11:5119128-5121895..11:5721056-5732713 | K562 | blood: | |
15 | 11:5137223-5140360..11:5721056-5732713 | GM12878 | blood: | |
16 | chr11:5140099..5148928-chr11:5149317..5155604,15 | K562 | blood: | |
17 | 11:5140946-5142235..11:5407716-5412355 | H1-hESC | embryonic stem cell: | embryo |
18 | 11:5137223-5140360..11:5250847-5268367 | Hela-S3 | cervix: | |
19 | chr11:5143402..5145661-chr11:5288331..5290238,2 | K562 | blood: | |
20 | 11:5119128-5121895..11:5469844-5475173 | H1-hESC | embryonic stem cell: | embryo |
21 | 11:5137223-5140360..11:5407716-5412355 | GM12878 | blood: | |
22 | 11:5146608-5154908..11:5349791-5355747 | K562 | blood: | |
23 | 11:5137223-5140360..11:5700314-5707362 | H1-hESC | embryonic stem cell: | embryo |
24 | 11:5119128-5121895..11:5250847-5268367 | H1-hESC | embryonic stem cell: | embryo |
25 | chr11:5124860..5127812-chr11:5127932..5129451,2 | K562 | blood: | |
26 | chr11:5125723..5127592-chr11:5130261..5133113,2 | K562 | blood: | |
27 | chr11:5140099..5148928-chr11:5149317..5155604,15 | K562 | blood: | |
28 | 11:5137223-5140360..11:5527719-5533869 | GM12878 | blood: | |
29 | chr11:5125723..5127592-chr11:5130261..5133113,2 | K562 | blood: | |
30 | chr11:5124860..5127812-chr11:5127932..5129451,2 | K562 | blood: | |
31 | 11:4778081-4789138..11:5137223-5140360 | Hela-S3 | cervix: | |
32 | chr11:5145799..5146631-chr11:5217510..5218294,2 | K562 | blood: | |
33 | chr11:5117503..5120431-chr11:5123925..5125786,2 | K562 | blood: |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-OR52A5-1 | chr11:5127292-5128067 | XLOC_009364 |
2 | lnc-OR52A5-1 | chr11:5128668-5128760 | XLOC_009364 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000236897 | TF binding region |
OR52J1P | TF binding region |
OR52A4 | TF binding region |
ENSG00000236897 | CpG island |
OR52J1P | CpG island |
OR52A4 | CpG island |
ENSG00000171944 | chromatin interactions |
ENSG00000260629 | chromatin interactions |
ENSG00000167346 | chromatin interactions |
ENSG00000175518 | chromatin interactions |
ENSG00000223609 | chromatin interactions |
ENSG00000229988 | chromatin interactions |
ENSG00000175520 | chromatin interactions |
ENSG00000244734 | chromatin interactions |
ENSG00000221031 | chromatin interactions |
ENSG00000132256 | chromatin interactions |
ENSG00000184698 | chromatin interactions |
ENSG00000205494 | chromatin interactions |
ENSG00000236897 | chromatin interactions |
ENSG00000132274 | chromatin interactions |
ENSG00000181616 | chromatin interactions |
ENSG00000181609 | chromatin interactions |
ENSG00000236359 | chromatin interactions |
ENSG00000187918 | chromatin interactions |
ENSG00000203560 | chromatin interactions |
ARID3B | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs549154000 | chr11:5117571-5117572 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs2445287 | chr11:5117603-5117604 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs74567800 | chr11:5117647-5117648 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs10837321 | chr11:5117695-5117696 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs367727614 | chr11:5117701-5117702 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs2499942 | chr11:5117707-5117708 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs147077405 | chr11:5117736-5117737 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs547991097 | chr11:5117821-5117822 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs553403493 | chr11:5117837-5117838 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs533550441 | chr11:5117857-5117858 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs565434180 | chr11:5117941-5117942 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs553439871 | chr11:5117942-5117943 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs117167943 | chr11:5117963-5117964 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs190035002 | chr11:5117964-5117965 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs574177569 | chr11:5117973-5117974 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs544860326 | chr11:5117994-5117995 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs556907949 | chr11:5118001-5118002 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs578038661 | chr11:5118017-5118018 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs376018506 | chr11:5118022-5118023 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs545419108 | chr11:5118065-5118066 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs374729458 | chr11:5118094-5118095 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs560514540 | chr11:5118128-5118129 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs562575564 | chr11:5118143-5118144 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs527771248 | chr11:5118166-5118167 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs182623608 | chr11:5118170-5118171 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs561109328 | chr11:5118171-5118172 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs531423951 | chr11:5118190-5118191 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs1965244 | chr11:5118222-5118223 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs571210658 | chr11:5118235-5118236 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs185552902 | chr11:5118288-5118289 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs118054006 | chr11:5118307-5118308 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs142609878 | chr11:5118315-5118316 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs189589113 | chr11:5118337-5118338 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs36069971 | chr11:5118346-5118347 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs182620626 | chr11:5118382-5118383 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs79114133 | chr11:5118401-5118402 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs538060515 | chr11:5118419-5118420 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs565194211 | chr11:5118468-5118469 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs146422061 | chr11:5118490-5118491 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs1463378 | chr11:5118509-5118510 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs201250014 | chr11:5118579-5118580 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs202100601 | chr11:5118580-5118581 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs4351812 | chr11:5118581-5118582 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs554187068 | chr11:5118586-5118587 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs572370791 | chr11:5118598-5118599 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs188880423 | chr11:5118609-5118610 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs148296610 | chr11:5118622-5118623 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs368459919 | chr11:5118624-5118625 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs576139518 | chr11:5118665-5118666 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs529444450 | chr11:5118703-5118704 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 19432969 | CNVD |
Alzheimer''s disease | 17576883 | CNVD |
Long-qt syndrome | 17576883 | CNVD |
Emphysema | 19352772 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Chordoma | 18071362 | CNVD |
Breast cancer | 16608533 | CNVD |
Cancer | 21183584 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Breast cancer | 17603634 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Wilms tumour | 21544195 | CNVD |
Parathyroid adenoma | 22454399 | CNVD |
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Gastric cancer | 17908304 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 22495311 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Ovine squamous-cell carcinoma | 17599052 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioma | 17123091 | CNVD |
Lung cancer | 16773561 | CNVD |
Neuroblastoma | 21124317 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Lung cancer | 17086460 | CNVD |
Schizophrenia | 21399695 | CNVD |
Gastric cancer | 16891809 | CNVD |
Cancer | 17160897 | CNVD |
Multiple myeloma | 16616336 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:5120600-5120800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr11:5120800-5123400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr11:5123400-5123800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
4 | chr11:5123400-5124200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr11:5124200-5127600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr11:5127600-5128400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr11:5128400-5128800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
8 | chr11:5128400-5129000 | Enhancers | K562 | blood |
9 | chr11:5128400-5129400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr11:5128600-5129000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
11 | chr11:5128600-5129000 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
12 | chr11:5128600-5129000 | Enhancers | H9 Cell Line | embryonic stem cell |
13 | chr11:5129400-5129600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
14 | chr11:5137200-5137400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
15 | chr11:5137400-5144000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
16 | chr11:5138600-5139000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
17 | chr11:5139000-5144800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
18 | chr11:5144000-5144600 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
19 | chr11:5144600-5145000 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
20 | chr11:5144800-5145200 | Enhancers | K562 | blood |
21 | chr11:5144800-5146800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
22 | chr11:5145000-5145800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
23 | chr11:5145200-5145400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
24 | chr11:5145200-5145600 | Bivalent Enhancer | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
25 | chr11:5145200-5145800 | Enhancers | Osteobl | bone |
26 | chr11:5145200-5146000 | Flanking Active TSS | K562 | blood |
27 | chr11:5146000-5147600 | Enhancers | K562 | blood |
28 | chr11:5147600-5148000 | Weak transcription | K562 | blood |
29 | chr11:5148000-5148400 | ZNF genes & repeats | K562 | blood |
30 | chr11:5148400-5150200 | Weak transcription | K562 | blood |