Variant report

Variant	nsv527030
Chromosome Location	chr7:144840724-144845595
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	chr7:144841731..144842512-chr7:144850534..144851528,2	MCF-7	breast:
2	chr7:144836936..144838549-chr7:144843546..144845629,2	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs725849	chr7:144840724-144840725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs61189321	chr7:144840744-144840745	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140148703	chr7:144840795-144840796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549644063	chr7:144840802-144840803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184344097	chr7:144840810-144840811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528751317	chr7:144840815-144840816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs725850	chr7:144840843-144840844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571521557	chr7:144840846-144840847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539036651	chr7:144840864-144840865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs725851	chr7:144840896-144840897	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569363452	chr7:144840900-144840901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73461822	chr7:144840934-144840935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144031855	chr7:144840953-144840954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572711196	chr7:144840954-144840955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114474712	chr7:144841067-144841068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73461827	chr7:144841082-144841083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576730906	chr7:144841094-144841095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544222049	chr7:144841105-144841106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6464652	chr7:144841128-144841129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529837352	chr7:144841135-144841136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6464653	chr7:144841136-144841137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs6464654	chr7:144841186-144841187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189208444	chr7:144841193-144841194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6464655	chr7:144841229-144841230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571943942	chr7:144841293-144841294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532382368	chr7:144841297-144841298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551003382	chr7:144841312-144841313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6464656	chr7:144841379-144841380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192795068	chr7:144841383-144841384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11380558	chr7:144841397-144841398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554647838	chr7:144841398-144841399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556248728	chr7:144841399-144841400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184900256	chr7:144841442-144841443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533755196	chr7:144841466-144841467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189570519	chr7:144841470-144841471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577113170	chr7:144841474-144841475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543853713	chr7:144841480-144841481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556083522	chr7:144841493-144841494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574485215	chr7:144841505-144841506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10487524	chr7:144841531-144841532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
41	rs7791208	chr7:144841533-144841534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555530719	chr7:144841554-144841555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553969782	chr7:144841559-144841560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567355166	chr7:144841565-144841566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573458361	chr7:144841578-144841579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540859232	chr7:144841615-144841616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565438877	chr7:144841628-144841629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146445502	chr7:144841696-144841697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556196274	chr7:144841718-144841719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377227303	chr7:144841719-144841720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:144833600-144844000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:144840000-144843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:144840600-144841000	Enhancers	Adipose Nuclei	Adipose
4	chr7:144841000-144842000	Weak transcription	Adipose Nuclei	Adipose
5	chr7:144842000-144842200	Enhancers	Adipose Nuclei	Adipose
6	chr7:144843600-144844000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:144844000-144844200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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