Variant report

Variant	nsv971652
Chromosome Location	chr8:54256830-54272294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 540 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559581252	chr8:54256857-54256858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573124092	chr8:54256867-54256868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567420268	chr8:54256869-54256870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77451467	chr8:54256874-54256875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564992943	chr8:54256875-54256876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62505424	chr8:54256878-54256879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150598669	chr8:54256899-54256900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138578212	chr8:54256919-54256920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77941516	chr8:54256967-54256968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190504372	chr8:54256971-54256972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546735981	chr8:54256978-54256979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566626568	chr8:54257030-54257031	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538813728	chr8:54257039-54257040	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552751322	chr8:54257096-54257097	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569419327	chr8:54257187-54257188	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs376066082	chr8:54257253-54257254	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538556075	chr8:54257287-54257288	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556983213	chr8:54257289-54257290	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11990775	chr8:54257296-54257297	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536352029	chr8:54257304-54257305	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181860388	chr8:54257380-54257381	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370334135	chr8:54257432-54257433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553059006	chr8:54257499-54257500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572984385	chr8:54257535-54257536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544843091	chr8:54257558-54257559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565110361	chr8:54257577-54257578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575427833	chr8:54257690-54257691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150756482	chr8:54257757-54257758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78225988	chr8:54257758-54257759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149290442	chr8:54257772-54257773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185226955	chr8:54257787-54257788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529987906	chr8:54257799-54257800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114929663	chr8:54257805-54257806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560176752	chr8:54257818-54257819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532658746	chr8:54257845-54257846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552470273	chr8:54257847-54257848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569467328	chr8:54257907-54257908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188190738	chr8:54257924-54257925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548949771	chr8:54257926-54257927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180681257	chr8:54257932-54257933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202031915	chr8:54257968-54257969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373841047	chr8:54257986-54257987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538655595	chr8:54258002-54258003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536215832	chr8:54258011-54258012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553020242	chr8:54258042-54258043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111631875	chr8:54258105-54258106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538754896	chr8:54258190-54258191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558457128	chr8:54258199-54258200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186446936	chr8:54258217-54258218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113777328	chr8:54258230-54258231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54256400-54257000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:54256400-54257200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:54256400-54257400	Enhancers	Adipose Nuclei	Adipose
4	chr8:54256400-54257400	Enhancers	HMEC	breast
5	chr8:54256400-54258800	Enhancers	Hela-S3	cervix
6	chr8:54256600-54257000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:54256600-54257000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:54256600-54257400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:54256600-54257400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:54256600-54257400	Enhancers	NHEK	skin
11	chr8:54256800-54257200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:54257000-54257200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:54257200-54257400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:54257200-54265400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:54263200-54263400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr8:54263400-54264200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:54264800-54266800	Enhancers	Hela-S3	cervix
18	chr8:54265000-54266000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:54265200-54266000	Enhancers	Placenta	Placenta
20	chr8:54265200-54266200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:54265200-54266200	Enhancers	HMEC	breast
22	chr8:54265200-54266400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:54265400-54266000	Enhancers	NHEK	skin
24	chr8:54265400-54266200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:54265400-54266200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:54265600-54266000	Enhancers	HSMMtube	muscle
27	chr8:54265800-54266200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:54266000-54266400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:54266200-54268600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:54266400-54266800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:54266800-54267000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:54267000-54269200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:54268600-54270200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:54268800-54269800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:54269000-54269800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:54269200-54269600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:54269200-54269600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:54269200-54269800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:54269800-54270800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:54269800-54274200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:54270800-54271000	Enhancers	HUES48 Cell Line	embryonic stem cell

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