Variant report

Variant	nsv510648
Chromosome Location	chr14:85285245-85304860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:85276415..85277177-chr14:85295527..85296295,2	MCF-7	breast:

Extended variants
information (count: 235 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539686172	chr14:85285672-85285673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79552475	chr14:85285741-85285742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573812654	chr14:85285772-85285773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1351687	chr14:85285785-85285786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377660087	chr14:85285797-85285798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569266098	chr14:85285820-85285821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115841417	chr14:85285879-85285880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532918424	chr14:85285903-85285904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145257899	chr14:85285904-85285905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551658778	chr14:85285933-85285934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199548902	chr14:85285952-85285953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535111720	chr14:85285953-85285954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560235180	chr14:85285960-85285961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79876159	chr14:85285965-85285966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76953990	chr14:85285967-85285968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527574657	chr14:85285978-85285979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547670393	chr14:85288537-85288538	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs565808670	chr14:85288541-85288542	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs138784626	chr14:85288564-85288565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs554169631	chr14:85288572-85288573	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376609635	chr14:85288576-85288577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546208028	chr14:85288594-85288595	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148967404	chr14:85288631-85288632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs536959752	chr14:85288643-85288644	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs143651349	chr14:85288653-85288654	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs1887072	chr14:85288673-85288674	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs541263135	chr14:85288727-85288728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs148076821	chr14:85288770-85288771	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs141843348	chr14:85288799-85288800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs531707030	chr14:85288837-85288838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147424251	chr14:85288860-85288861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs561283503	chr14:85288896-85288897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372130250	chr14:85288909-85288910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112187353	chr14:85288912-85288913	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs576759594	chr14:85288917-85288918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138215762	chr14:85288976-85288977	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550498477	chr14:85288982-85288983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs545668370	chr14:85289020-85289021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542938507	chr14:85289092-85289093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs115011174	chr14:85289121-85289122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs532685246	chr14:85289140-85289141	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528568183	chr14:85289162-85289163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs2765904	chr14:85289193-85289194	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566117012	chr14:85289234-85289235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535962564	chr14:85289242-85289243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547844704	chr14:85289306-85289307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569315647	chr14:85289357-85289358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536697949	chr14:85289360-85289361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558261295	chr14:85289395-85289396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184847904	chr14:85289419-85289420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85285600-85286000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:85288400-85288600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr14:85288600-85289200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:85288600-85290200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:85290000-85290400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:85290200-85290400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr14:85290200-85290600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:85290200-85290800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:85290200-85292600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:85290200-85293000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:85290400-85290600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:85290400-85291000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:85290400-85291000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:85290400-85292600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr14:85290600-85290800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:85290600-85292200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:85290600-85292200	Enhancers	NHEK	skin
18	chr14:85290800-85291000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr14:85290800-85291200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:85290800-85291400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:85291000-85291400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:85291000-85291600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:85291000-85293000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr14:85291200-85292600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:85291400-85292000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr14:85291400-85292600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:85291400-85293000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:85291400-85293800	Enhancers	HMEC	breast
29	chr14:85291600-85291800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr14:85291600-85292400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:85291600-85292400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr14:85291600-85292400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:85291600-85293800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:85291600-85293800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:85291800-85292400	Enhancers	NH-A	brain
36	chr14:85291800-85292600	Enhancers	Hela-S3	cervix
37	chr14:85291800-85293000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:85291800-85293000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:85291800-85293600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:85292000-85293000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:85292200-85292600	Flanking Active TSS	NHEK	skin
42	chr14:85292600-85293800	Enhancers	NHEK	skin
43	chr14:85299400-85300200	Enhancers	HUES6 Cell Line	embryonic stem cell

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