Variant report
Variant | nsv1026052 |
---|---|
Chromosome Location | chr9:10665305-10690633 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr9:10656522..10658673-chr9:10675612..10678102,2 | K562 | blood: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs527549004 | chr9:10673800-10673801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs7029106 | chr9:10673850-10673851 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs376686883 | chr9:10673891-10673892 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs563894937 | chr9:10673912-10673913 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs138204792 | chr9:10673929-10673930 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs535742476 | chr9:10673933-10673934 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs574258052 | chr9:10673967-10673968 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs570028955 | chr9:10673972-10673973 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs529308055 | chr9:10673978-10673979 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs549360828 | chr9:10674011-10674012 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs566383080 | chr9:10674017-10674018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs187453345 | chr9:10674028-10674029 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs6474585 | chr9:10674084-10674085 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs10217768 | chr9:10674110-10674111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs571849941 | chr9:10674123-10674124 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs537231540 | chr9:10674127-10674128 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs556253620 | chr9:10674157-10674158 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs576028823 | chr9:10674173-10674174 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs568145784 | chr9:10674188-10674189 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs76963660 | chr9:10674204-10674205 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs541441166 | chr9:10674214-10674215 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs191738055 | chr9:10674219-10674220 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs144056683 | chr9:10674228-10674229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs75623526 | chr9:10674230-10674231 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs367668217 | chr9:10674235-10674236 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs539659225 | chr9:10674365-10674366 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs564032942 | chr9:10674405-10674406 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs148527210 | chr9:10674433-10674434 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs78219150 | chr9:10674470-10674471 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs7468209 | chr9:10674480-10674481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs141908292 | chr9:10674492-10674493 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs146056013 | chr9:10674495-10674496 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs80119008 | chr9:10674502-10674503 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs143898073 | chr9:10674506-10674507 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs4391481 | chr9:10674523-10674524 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs571824420 | chr9:10674525-10674526 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs537673849 | chr9:10674554-10674555 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs4443711 | chr9:10674573-10674574 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs184022889 | chr9:10674574-10674575 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs535134489 | chr9:10674576-10674577 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs555044035 | chr9:10674586-10674587 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs527448003 | chr9:10674638-10674639 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs111566653 | chr9:10674684-10674685 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs113656480 | chr9:10674698-10674699 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs558053252 | chr9:10674710-10674711 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs371225575 | chr9:10674737-10674738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs188970412 | chr9:10674750-10674751 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs543610404 | chr9:10674767-10674768 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs117673306 | chr9:10674784-10674785 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs4376540 | chr9:10674794-10674795 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
abnormal development | 18461090 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Lung cancer | 16740712 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 16608533 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 16272173 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Cervical cancer | 21063398 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Melanoma | 18172304 | CNVD |
Biliary cancer | 19435499 | CNVD |
Gastric cancer | 21586687 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Myopathy | 18421352 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Acute lymphoblastic leukemia | 18957548 | CNVD |
Myeloproliferative neoplasm | 17564968 | CNVD |
Malignant meningioma | 17937814 | CNVD |
Glioma | 21971842 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Chordoma | 18071362 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Developmental delay | 19490664 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
microdeletion syndrome | 16199537 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Cancer | 20164919 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
XY gonadal dysgenesis | 20685758 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Oral cancer | 21386901 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 21785460 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21858162 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Autism | 22495311 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma | 19074898 | CNVD |
Malignant melanoma | 19074898 | CNVD |
Prostate cancer | 16573809 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Cancer | 20164920 | CNVD |
Developmental delay | 21147756 | CNVD |
small cell lung cancer | 21764851 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioma | 17123091 | CNVD |
Lung cancer | 16773561 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Gastric cancer | 16891809 | CNVD |
Mental retardation | 17847001 | CNVD |
Cutaneous squamous cell carcinomas | 17420988 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pilocytic astrocytoma | 18670637 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21611746 | CNVD |
Melanoma | 22183965 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Renal cell carcinoma | 21215367 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:10673800-10675200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
2 | chr9:10674400-10675200 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
3 | chr9:10674400-10675200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
4 | chr9:10674800-10675200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
5 | chr9:10675800-10676000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
6 | chr9:10675800-10676000 | Bivalent/Poised TSS | Breast Myoepithelial Primary Cells | Breast |
7 | chr9:10676000-10677600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
8 | chr9:10678400-10679000 | Enhancers | NH-A | brain |
9 | chr9:10685600-10686400 | Enhancers | Placenta Amnion | Placenta Amnion |
10 | chr9:10686600-10687800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
11 | chr9:10687200-10688000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
12 | chr9:10687400-10688000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
13 | chr9:10687400-10688000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |