Variant report
Variant | nsv1029320 |
---|---|
Chromosome Location | chr8:4234106-4259234 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:105)
- CpG islands (count:61)
- Chromatin interactive region (count:2)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:4238976-4239026 | HCT-116 | colon: | n/a |
2 | chr8:4238976-4239026 | GM12891 | blood: | n/a |
3 | chr8:4238976-4239026 | HCF | heart: | n/a |
4 | chr8:4238976-4239026 | NHDF-neo | bronchial: | n/a |
5 | chr8:4238976-4239026 | GM12892 | blood: | n/a |
6 | chr8:4238976-4239026 | AG10803 | skin: | n/a |
7 | chr8:4238976-4239026 | U87 | brain: | n/a |
8 | chr8:4238976-4239026 | NHBE | bronchial: | n/a |
9 | chr8:4238976-4239026 | HAEpiC | amniotic membrane: | n/a |
10 | chr8:4238976-4239026 | HIPEpiC | eye: | n/a |
11 | chr8:4238976-4239026 | HMEC | breast: | n/a |
12 | chr8:4238976-4239026 | GM12878 | blood: | n/a |
13 | chr8:4238976-4239026 | IMR90 | lung: | fetal |
14 | chr8:4238976-4239026 | SAEC | small airway: | n/a |
15 | chr8:4238976-4239026 | AoSMC | blood vessel: | n/a |
16 | chr8:4238976-4239026 | HUVEC | blood vessel: | n/a |
17 | chr8:4238976-4239026 | BE2_C | brain: | n/a |
18 | chr8:4238976-4239026 | SK-N-SH | brain: | n/a |
19 | chr8:4238976-4239026 | K562 | blood: | n/a |
20 | chr8:4238976-4239026 | SK-N-MC | brain: | n/a |
21 | chr8:4238976-4239026 | Hela-S3 | cervix: | n/a |
22 | chr8:4238976-4239026 | PANC-1 | pancreas: | n/a |
23 | chr8:4238976-4239026 | T-47D | breast: | n/a |
24 | chr8:4238976-4239026 | PrEC | prostate: | n/a |
25 | chr8:4238976-4239026 | AG09319 | gingival: | n/a |
26 | chr8:4238976-4239026 | AG04450 | lung: | fetal |
27 | chr8:4238976-4239026 | Jurkat | blood: | n/a |
28 | chr8:4238976-4239026 | A549 | lung: | n/a |
29 | chr8:4238976-4239026 | HepG2 | liver: | n/a |
30 | chr8:4238976-4239026 | Caco-2 | colon: | n/a |
31 | chr8:4238976-4239026 | GM19239 | blood: | n/a |
32 | chr8:4238976-4239026 | MCF10A-Er-Src | breast: | n/a |
33 | chr8:4238976-4239026 | ovcar-3 | ovarian: | n/a |
34 | chr8:4238976-4239026 | ProgFib | skin: | n/a |
35 | chr8:4238976-4239026 | RPTEC | kidney: | n/a |
36 | chr8:4238976-4239026 | NH-A | brain: | n/a |
37 | chr8:4238976-4239026 | NB4 | blood: | n/a |
38 | chr8:4238976-4239026 | NT2-D1 | testis: | n/a |
39 | chr8:4238976-4239026 | AG04449 | skin: | fetal |
40 | chr8:4238976-4239026 | CMK | blood: | n/a |
41 | chr8:4238976-4239026 | SK-N-SH_RA | brain: | n/a |
42 | chr8:4238976-4239026 | HL-60 | blood: | n/a |
43 | chr8:4238976-4239026 | HRE | kidney: | n/a |
44 | chr8:4238976-4239026 | MCF-7 | breast: | n/a |
45 | chr8:4238976-4239026 | AG09309 | skin: | n/a |
46 | chr8:4238976-4239026 | HNPCEpiC | eye: | n/a |
47 | chr8:4238976-4239026 | HRPEpiC | eye: | n/a |
48 | chr8:4238976-4239026 | LNCaP | prostate: | n/a |
49 | chr8:4238976-4239026 | H1-hESC | embryonic stem cell: | embryo |
50 | chr8:4238976-4239026 | SKMC | muscle: | n/a |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-MCPH1-8 | chr8:4250344-4250612 | NONHSAT124750 |
No data |
No data |
Variant related genes | Relation type |
---|---|
RN7SL872P | TF binding region |
RN7SL872P | CpG island |
ENSG00000183117 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs550495764 | chr8:4235810-4235811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs546666280 | chr8:4235811-4235812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs79229105 | chr8:4235816-4235817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs532502146 | chr8:4235819-4235820 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs551396696 | chr8:4235825-4235826 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs188751684 | chr8:4235867-4235868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs536943578 | chr8:4235896-4235897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs17414118 | chr8:4235897-4235898 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs181127764 | chr8:4235900-4235901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs562404008 | chr8:4235902-4235903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs140688775 | chr8:4235906-4235907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs185640465 | chr8:4235913-4235914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs145878169 | chr8:4235914-4235915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs544940555 | chr8:4235928-4235929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs552306032 | chr8:4235958-4235959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs138345184 | chr8:4235983-4235984 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs149222164 | chr8:4236006-4236007 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs189958920 | chr8:4236007-4236008 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs372925984 | chr8:4236011-4236012 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs544553577 | chr8:4236012-4236013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs7004716 | chr8:4236024-4236025 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs367807744 | chr8:4236027-4236028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs565338320 | chr8:4236035-4236036 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs143221950 | chr8:4236045-4236046 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs369773608 | chr8:4236046-4236047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs569148726 | chr8:4236047-4236048 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs75765135 | chr8:4236058-4236059 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs75308159 | chr8:4236083-4236084 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs75389534 | chr8:4236097-4236098 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs534777672 | chr8:4236129-4236130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs117387038 | chr8:4236139-4236140 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs11785556 | chr8:4236161-4236162 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
33 | rs538343760 | chr8:4236184-4236185 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs556948495 | chr8:4236189-4236190 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs565434412 | chr8:4236192-4236193 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs572870586 | chr8:4236204-4236205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs554807598 | chr8:4236216-4236217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs35799660 | chr8:4236230-4236231 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs540380277 | chr8:4236235-4236236 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs112698487 | chr8:4236238-4236239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs547766811 | chr8:4236252-4236253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs568291779 | chr8:4236299-4236300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs577309171 | chr8:4236305-4236306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs143103193 | chr8:4236312-4236313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs562932191 | chr8:4236314-4236315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs147496419 | chr8:4236317-4236318 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs34714143 | chr8:4236319-4236320 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs572847481 | chr8:4236320-4236321 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs182554996 | chr8:4236323-4236324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs117837697 | chr8:4236327-4236328 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 16573809 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
abnormal development | 18461090 | CNVD |
Crohn''s disease | 19220326 | CNVD |
Psoriasis | 19220326 | CNVD |
Prostate cancer | 21965145 | CNVD |
Prostate cancer | 18515986 | CNVD |
Chronic obstructive pulmonary disease | 20378733 | CNVD |
Autism | 18414403 | CNVD |
Cancer | 21183584 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Breast cancer | 17603634 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Cervical cancer | 17311676 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Schizophrenia | 20877625 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Breast cancer | 17001317 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Heart disease | 21282601 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Breast cancer | 17393978 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Breast cancer | 20837533 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 22429812 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21264507 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 21088497 | CNVD |
Breast cancer | 20940404 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Gastric cancer | 17167181 | CNVD |
Prostate cancer | 16705090 | CNVD |
8p-syndrome | 17576883 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Prostate cancer | 17245344 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | 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 |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21785460 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Breast cancer | 21509527 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Epilepsy | 22083797 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Autism | 22495311 | CNVD |
Congenital diaphragmatic hernia | 21064195 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20164920 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Prostate cancer | 17217626 | CNVD |
Developmental delay | 19128483 | CNVD |
Neuroticism | 17667963 | CNVD |
Leukoplakia | 24403051 | CNVD |
Intellectual disability | 22045946 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16608533 | CNVD |
Seminomas | 18059402 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Colorectal cancer | 22014273 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Cancer | 20164919 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Schizophrenia | 21346763 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:4235800-4236000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr8:4236000-4236200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr8:4236200-4238800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
4 | chr8:4238800-4239200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
5 | chr8:4238800-4239200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
6 | chr8:4238800-4239400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
7 | chr8:4238800-4239400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
8 | chr8:4238800-4239400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
9 | chr8:4239000-4239200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
10 | chr8:4239000-4240000 | Enhancers | H1 Cell Line | embryonic stem cell |
11 | chr8:4240400-4240600 | Enhancers | Psoas Muscle | Psoas |
12 | chr8:4252000-4253000 | Enhancers | Dnd41 | blood |
13 | chr8:4252200-4252600 | Enhancers | Thymus | Thymus |
14 | chr8:4252400-4252600 | Enhancers | Pancreas | Pancrea |
15 | chr8:4257400-4258000 | Enhancers | Fetal Brain Female | brain |
16 | chr8:4257600-4260400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
17 | chr8:4257800-4258200 | Enhancers | Fetal Brain Male | brain |
18 | chr8:4258000-4260000 | Weak transcription | Fetal Brain Female | brain |
19 | chr8:4258200-4265000 | Weak transcription | Fetal Brain Male | brain |