Variant report

Variant	nsv611570
Chromosome Location	chr8:78478497-78530899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:78518144..78519144-chr8:79144271..79145233,9	MCF-7	breast:
2	chr8:78512754..78513523-chr8:79163081..79163614,2	MCF-7	breast:
3	chr8:78490209..78491939-chr8:78494063..78496906,3	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: 669 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6998814	chr8:78478497-78478498	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117726570	chr8:78478523-78478524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534050441	chr8:78478529-78478530	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs139691892	chr8:78478548-78478549	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368584243	chr8:78478561-78478562	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs375945851	chr8:78478578-78478579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs417710	chr8:78478607-78478608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs377046	chr8:78478646-78478647	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189688239	chr8:78478661-78478662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs421431	chr8:78478668-78478669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563482957	chr8:78478705-78478706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs72667635	chr8:78478706-78478707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112512302	chr8:78478731-78478732	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564324304	chr8:78478740-78478741	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141078346	chr8:78478763-78478764	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145430210	chr8:78478815-78478816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374386658	chr8:78478816-78478817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34981723	chr8:78478818-78478819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368072764	chr8:78478820-78478821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149830182	chr8:78478823-78478824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556912720	chr8:78478946-78478947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561656969	chr8:78478980-78478981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115271890	chr8:78478993-78478994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528941200	chr8:78479019-78479020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547860152	chr8:78479041-78479042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73232349	chr8:78479045-78479046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74757587	chr8:78479074-78479075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35937226	chr8:78479116-78479117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs597249	chr8:78479150-78479151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs404423	chr8:78479155-78479156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146293878	chr8:78479157-78479158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569482495	chr8:78479187-78479188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572835995	chr8:78479200-78479201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs416241	chr8:78479208-78479209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs416197	chr8:78479257-78479258	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555637716	chr8:78479272-78479273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58197425	chr8:78479336-78479337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34487697	chr8:78479364-78479365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76046561	chr8:78479371-78479372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527715869	chr8:78479395-78479396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141237271	chr8:78479446-78479447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78056786	chr8:78479486-78479487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527777304	chr8:78479504-78479505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577599878	chr8:78479538-78479539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12541147	chr8:78479549-78479550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375423123	chr8:78479570-78479571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544984605	chr8:78479580-78479581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185193061	chr8:78479581-78479582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs409276	chr8:78479598-78479599	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs395867	chr8:78479601-78479602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78477600-78478600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:78477800-78478600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:78477800-78478600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:78477800-78478800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:78477800-78478800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:78477800-78479000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:78477800-78479200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:78478000-78478600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:78478000-78478600	Enhancers	Fetal Stomach	stomach
10	chr8:78478000-78478800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:78478200-78479000	Enhancers	Hela-S3	cervix
12	chr8:78478200-78479800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:78478400-78479200	Enhancers	Osteobl	bone
14	chr8:78478400-78479800	Enhancers	Adipose Nuclei	Adipose
15	chr8:78478400-78481400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:78478600-78479600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:78478800-78479800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:78479000-78479600	Weak transcription	Hela-S3	cervix
19	chr8:78479600-78479800	Enhancers	Hela-S3	cervix
20	chr8:78481200-78482400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr8:78481400-78482800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:78481800-78482200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr8:78484400-78484600	Enhancers	Small Intestine	intestine
24	chr8:78485600-78487000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:78502600-78504800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:78518200-78520200	Enhancers	Liver	Liver
27	chr8:78519800-78520400	Active TSS	Aorta	Aorta
28	chr8:78521400-78522000	Enhancers	Fetal Brain Female	brain
29	chr8:78521400-78522600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:78521600-78521800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:78521800-78522400	Enhancers	Fetal Brain Male	brain
32	chr8:78522000-78523800	Weak transcription	Fetal Brain Female	brain
33	chr8:78522400-78523600	Weak transcription	Fetal Brain Male	brain
34	chr8:78523600-78524400	Enhancers	Fetal Brain Male	brain
35	chr8:78523800-78525400	Enhancers	Fetal Brain Female	brain

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