Variant report

Variant	nsv611569
Chromosome Location	chr8:78477561-78530899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:78490209..78491939-chr8:78494063..78496906,3	MCF-7	breast:
2	chr8:78518144..78519144-chr8:79144271..79145233,9	MCF-7	breast:
3	chr8:78512754..78513523-chr8:79163081..79163614,2	MCF-7	breast:
4	chr8:78490209..78491939-chr8:78494063..78496906,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFHX4-3	chr8:78518908-78518940	NONHSAT127353
2	lnc-ZFHX4-3	chr8:78518908-78518940	ENSG00000254366

Extended variants
information (count: 708 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386790	chr8:78477561-78477562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557959226	chr8:78477566-78477567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191552641	chr8:78477582-78477583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538379485	chr8:78477631-78477632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78268470	chr8:78477634-78477635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569523091	chr8:78477670-78477671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397891787	chr8:78477679-78477680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182942460	chr8:78477696-78477697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574912360	chr8:78477712-78477713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188084457	chr8:78477738-78477739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs413303	chr8:78477772-78477773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs207469411	chr8:78477801-78477802	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192367925	chr8:78477835-78477836	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139512151	chr8:78477847-78477848	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567655953	chr8:78477890-78477891	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182103165	chr8:78477896-78477897	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564299548	chr8:78477900-78477901	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs34889980	chr8:78477921-78477922	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs397892994	chr8:78477922-78477923	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187852698	chr8:78477943-78477944	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192410205	chr8:78477959-78477960	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs431962	chr8:78477964-78477965	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs432067	chr8:78477969-78477970	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547045451	chr8:78477989-78477990	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144537168	chr8:78477993-78477994	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs184459765	chr8:78478020-78478021	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs564979026	chr8:78478065-78478066	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs551689347	chr8:78478081-78478082	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569909715	chr8:78478131-78478132	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs386673	chr8:78478133-78478134	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189955036	chr8:78478134-78478135	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs193007131	chr8:78478161-78478162	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs403035	chr8:78478218-78478219	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374242411	chr8:78478273-78478274	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558216714	chr8:78478343-78478344	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553834392	chr8:78478355-78478356	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184779574	chr8:78478369-78478370	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs539785008	chr8:78478483-78478484	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558025969	chr8:78478490-78478491	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs6998814	chr8:78478497-78478498	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs117726570	chr8:78478523-78478524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534050441	chr8:78478529-78478530	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs139691892	chr8:78478548-78478549	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs368584243	chr8:78478561-78478562	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375945851	chr8:78478578-78478579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs417710	chr8:78478607-78478608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377046	chr8:78478646-78478647	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189688239	chr8:78478661-78478662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs421431	chr8:78478668-78478669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563482957	chr8:78478705-78478706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Urothelial cell carcinoma	18451213	CNVD
Intellectual disability	21802062	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78477000-78477800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:78477000-78477800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:78477200-78477800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:78477200-78477800	Enhancers	Adipose Nuclei	Adipose
5	chr8:78477200-78477800	Enhancers	Liver	Liver
6	chr8:78477200-78478000	Enhancers	Primary T cells from cord blood	blood
7	chr8:78477600-78477800	Enhancers	Osteobl	bone
8	chr8:78477600-78478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:78477600-78478600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:78477800-78478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:78477800-78478000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:78477800-78478000	Flanking Active TSS	Liver	Liver
13	chr8:78477800-78478000	Active TSS	Hela-S3	cervix
14	chr8:78477800-78478200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:78477800-78478200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:78477800-78478400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:78477800-78478400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:78477800-78478400	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:78477800-78478400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr8:78477800-78478400	Flanking Active TSS	Osteobl	bone
21	chr8:78477800-78478600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:78477800-78478600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:78477800-78478800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:78477800-78478800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:78477800-78479000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:78477800-78479200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:78478000-78478200	Active TSS	Liver	Liver
28	chr8:78478000-78478200	Flanking Active TSS	Hela-S3	cervix
29	chr8:78478000-78478400	Enhancers	Fetal Kidney	kidney
30	chr8:78478000-78478600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:78478000-78478600	Enhancers	Fetal Stomach	stomach
32	chr8:78478000-78478800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:78478200-78479000	Enhancers	Hela-S3	cervix
34	chr8:78478200-78479800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:78478400-78479200	Enhancers	Osteobl	bone
36	chr8:78478400-78479800	Enhancers	Adipose Nuclei	Adipose
37	chr8:78478400-78481400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:78478600-78479600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:78478800-78479800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:78479000-78479600	Weak transcription	Hela-S3	cervix
41	chr8:78479600-78479800	Enhancers	Hela-S3	cervix
42	chr8:78481200-78482400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr8:78481400-78482800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:78481800-78482200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr8:78484400-78484600	Enhancers	Small Intestine	intestine
46	chr8:78485600-78487000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:78502600-78504800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:78518200-78520200	Enhancers	Liver	Liver
49	chr8:78519800-78520400	Active TSS	Aorta	Aorta
50	chr8:78521400-78522000	Enhancers	Fetal Brain Female	brain

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