Variant report
Variant | nsv289806 |
---|---|
Chromosome Location | chr4:10400965-10407893 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:210)
- CpG islands (count:61)
- Chromatin interactive region (count:27)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:10405694-10405744 | HCT-116 | colon: | n/a |
2 | chr4:10405694-10405744 | U87 | brain: | n/a |
3 | chr4:10405694-10405744 | NHDF-neo | bronchial: | n/a |
4 | chr4:10405694-10405744 | IMR90 | lung: | fetal |
5 | chr4:10405694-10405744 | BJ | skin: | n/a |
6 | chr4:10405694-10405744 | A549 | lung: | n/a |
7 | chr4:10405694-10405744 | ECC-1 | luminal epithelium: | n/a |
8 | chr4:10405694-10405744 | PFSK-1 | brain: | n/a |
9 | chr4:10405694-10405744 | HEK293 | kidney: | embryo |
10 | chr4:10405694-10405744 | HPAEpiC | pulmonary alveolar: | n/a |
11 | chr4:10405694-10405744 | SK-N-MC | brain: | n/a |
12 | chr4:10405694-10405744 | GM12891 | blood: | n/a |
13 | chr4:10405694-10405744 | AG04450 | lung: | fetal |
14 | chr4:10405694-10405744 | AG10803 | skin: | n/a |
15 | chr4:10405694-10405744 | NB4 | blood: | n/a |
16 | chr4:10405694-10405744 | HRE | kidney: | n/a |
17 | chr4:10405694-10405744 | HL-60 | blood: | n/a |
18 | chr4:10405694-10405744 | GM06990 | blood: | n/a |
19 | chr4:10405694-10405744 | LNCaP | prostate: | n/a |
20 | chr4:10405694-10405744 | MCF10A-Er-Src | breast: | n/a |
21 | chr4:10405694-10405744 | HCM | heart: | n/a |
22 | chr4:10405694-10405744 | GM12878 | blood: | n/a |
23 | chr4:10405694-10405744 | HRCEpiC | kidney: | n/a |
24 | chr4:10405694-10405744 | HUVEC | blood vessel: | n/a |
25 | chr4:10405694-10405744 | HepG2 | liver: | n/a |
26 | chr4:10405694-10405744 | RPTEC | kidney: | n/a |
27 | chr4:10405694-10405744 | HMEC | breast: | n/a |
28 | chr4:10405694-10405744 | SK-N-SH | brain: | n/a |
29 | chr4:10405694-10405744 | NT2-D1 | testis: | n/a |
30 | chr4:10405694-10405744 | AG09309 | skin: | n/a |
31 | chr4:10405694-10405744 | SKMC | muscle: | n/a |
32 | chr4:10405694-10405744 | H1-hESC | embryonic stem cell: | embryo |
33 | chr4:10405694-10405744 | AG09319 | gingival: | n/a |
34 | chr4:10405694-10405744 | SK-N-SH_RA | brain: | n/a |
35 | chr4:10405694-10405744 | Jurkat | blood: | n/a |
36 | chr4:10405694-10405744 | T-47D | breast: | n/a |
37 | chr4:10405694-10405744 | HEEpiC | esophagus: | n/a |
38 | chr4:10405694-10405744 | NHBE | bronchial: | n/a |
39 | chr4:10405694-10405744 | PANC-1 | pancreas: | n/a |
40 | chr4:10405694-10405744 | SAEC | small airway: | n/a |
41 | chr4:10405694-10405744 | HAEpiC | amniotic membrane: | n/a |
42 | chr4:10405694-10405744 | ovcar-3 | ovarian: | n/a |
43 | chr4:10405694-10405744 | MCF-7 | breast: | n/a |
44 | chr4:10405694-10405744 | PrEC | prostate: | n/a |
45 | chr4:10405694-10405744 | HCPEpiC | choroid plexus: | n/a |
46 | chr4:10405694-10405744 | NH-A | brain: | n/a |
47 | chr4:10405694-10405744 | HIPEpiC | eye: | n/a |
48 | chr4:10405694-10405744 | GM12892 | blood: | n/a |
49 | chr4:10405694-10405744 | HCF | heart: | n/a |
50 | chr4:10405694-10405744 | GM19239 | blood: | n/a |
(count:27 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:10158544..10160312-chr4:10404691..10406060,12 | K562 | blood: | |
2 | chr4:10182452..10185153-chr4:10405566..10407454,2 | K562 | blood: | |
3 | chr4:10159016..10159805-chr4:10405257..10406163,3 | MCF-7 | breast: | |
4 | chr4:10187220..10189194-chr4:10403510..10406450,3 | K562 | blood: | |
5 | chr4:10185450..10187184-chr4:10401056..10402949,2 | K562 | blood: | |
6 | chr4:10166648..10168321-chr4:10402902..10405737,2 | K562 | blood: | |
7 | chr4:10405058..10406722-chr4:10414024..10415781,2 | K562 | blood: | |
8 | chr4:10391155..10393700-chr4:10401011..10403355,4 | MCF-7 | breast: | |
9 | chr4:10118696..10122262-chr4:10407294..10411909,5 | K562 | blood: | |
10 | chr4:10194015..10194637-chr4:10405680..10406337,2 | MCF-7 | breast: | |
11 | chr4:10390019..10393146-chr4:10400722..10404569,4 | K562 | blood: | |
12 | chr4:10172802..10175283-chr4:10404131..10407127,2 | K562 | blood: | |
13 | chr4:10166196..10167366-chr4:10404929..10406035,4 | MCF-7 | breast: | |
14 | chr4:10161526..10162602-chr4:10405096..10406350,5 | K562 | blood: | |
15 | chr4:10187984..10188890-chr4:10405320..10406071,3 | MCF-7 | breast: | |
16 | chr4:10180539..10184306-chr4:10401076..10403855,3 | K562 | blood: | |
17 | chr17:59945131..59945952-chr4:10405006..10405538,2 | MCF-7 | breast: | |
18 | chr4:10406734..10408445-chr4:10443381..10446084,2 | K562 | blood: | |
19 | chr4:10184632..10187184-chr4:10400763..10402949,2 | K562 | blood: | |
20 | chr4:10117259..10119774-chr4:10404203..10405780,2 | K562 | blood: | |
21 | chr4:10120437..10124442-chr4:10402726..10405362,4 | K562 | blood: | |
22 | chr4:10166113..10167122-chr4:10405126..10405888,4 | K562 | blood: | |
23 | chr4:10166236..10167092-chr4:10405236..10406016,3 | MCF-7 | breast: | |
24 | chr4:10181802..10184742-chr4:10401642..10403855,2 | K562 | blood: | |
25 | chr4:10404962..10406013-chr4:10527520..10528737,3 | MCF-7 | breast: | |
26 | chr4:10117259..10123841-chr4:10401893..10417202,19 | K562 | blood: | |
27 | chr4:10186739..10189194-chr4:10403510..10406450,4 | K562 | blood: |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DRD5-4 | chr4:10404495-10404649 | NONHSAT095495 |
2 | lnc-DRD5-4 | chr4:10404495-10404649 | FPKM1_group_22843_transcript_2 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000250613 | TF binding region |
ENSG00000250613 | CpG island |
ENSG00000223086 | chromatin interactions |
ENSG00000071127 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs554229667 | chr4:10400983-10400984 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs182015929 | chr4:10400989-10400990 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs186513615 | chr4:10400998-10400999 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs554811268 | chr4:10401037-10401038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs6447939 | chr4:10401085-10401086 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs79758586 | chr4:10401129-10401130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs192159991 | chr4:10401168-10401169 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs6447940 | chr4:10401190-10401191 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs10017305 | chr4:10401223-10401224 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs113040303 | chr4:10401271-10401272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs369399505 | chr4:10401277-10401278 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs559397954 | chr4:10401329-10401330 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs183431213 | chr4:10401340-10401341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs542776530 | chr4:10401395-10401396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs561165857 | chr4:10401416-10401417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs59611708 | chr4:10401561-10401562 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs188637201 | chr4:10401576-10401577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs75293450 | chr4:10401600-10401601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs74405806 | chr4:10401614-10401615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs73104926 | chr4:10401625-10401626 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs573283630 | chr4:10401633-10401634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs191336148 | chr4:10401643-10401644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs536760908 | chr4:10401689-10401690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs554778220 | chr4:10401733-10401734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs374886003 | chr4:10401735-10401736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs138643945 | chr4:10401760-10401761 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs543658049 | chr4:10401772-10401773 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs201998885 | chr4:10401773-10401774 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs200248146 | chr4:10401781-10401782 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs28624810 | chr4:10401782-10401783 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs28538682 | chr4:10401783-10401784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs150238723 | chr4:10401800-10401801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs537277166 | chr4:10401805-10401806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs182468520 | chr4:10401807-10401808 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs538175983 | chr4:10401821-10401822 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs9631705 | chr4:10401940-10401941 | Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs372053300 | chr4:10401997-10401998 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs577113944 | chr4:10402015-10402016 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs540976463 | chr4:10402017-10402018 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs552704821 | chr4:10402031-10402032 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs574164367 | chr4:10402058-10402059 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs541500508 | chr4:10402069-10402070 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs563075387 | chr4:10402085-10402086 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs71649566 | chr4:10402089-10402090 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs377336568 | chr4:10402161-10402162 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs373502613 | chr4:10402171-10402172 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs78642435 | chr4:10402173-10402174 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs386508456 | chr4:10402181-10402182 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs531776256 | chr4:10402193-10402194 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs186746327 | chr4:10402242-10402243 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Colorectal cancer | 16272173 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17603634 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 17533364 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Cancer | 21637783 | CNVD |
Melanoma | 21693616 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Cervical cancer | 21062161 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Neuroblastoma | 18923191 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Prostate cancer | 18632612 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21785460 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Breast cancer | 21509527 | CNVD |
Lung cancer | 18438408 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Schizophrenia | 22241247 | CNVD |
Autosomal-dominant microtia | 18179897 | CNVD |
Glioma | 17123091 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21858162 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Neuroblastoma | 20406844 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:10387000-10403600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr4:10398400-10403400 | Weak transcription | K562 | blood |
3 | chr4:10399000-10405600 | Weak transcription | NHEK | skin |
4 | chr4:10399200-10402800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
5 | chr4:10400600-10405200 | Weak transcription | HMEC | breast |
6 | chr4:10400600-10405400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
7 | chr4:10402800-10403000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
8 | chr4:10403400-10406000 | Enhancers | K562 | blood |
9 | chr4:10405200-10405800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
10 | chr4:10405200-10406000 | Enhancers | HMEC | breast |
11 | chr4:10405400-10406000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
12 | chr4:10405600-10406000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
13 | chr4:10405600-10406000 | Enhancers | NHEK | skin |
14 | chr4:10405600-10406400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
15 | chr4:10406000-10408800 | Weak transcription | K562 | blood |
16 | chr4:10407400-10407600 | Enhancers | Fetal Heart | heart |
17 | chr4:10407600-10408600 | Weak transcription | Fetal Heart | heart |