Variant report

Variant	nsv960378
Chromosome Location	chr16:77275397-77282678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:77272210..77274074-chr16:77274848..77276785,2	K562	blood:
2	chr16:77278039..77279706-chr16:77282947..77285823,2	K562	blood:
3	chr16:77273435..77275318-chr16:77277806..77279543,2	K562	blood:

Variant related genes	Relation type
ENSG00000261063	chromatin interactions

Extended variants
information (count: 317 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555838764	chr16:77275435-77275436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190308375	chr16:77275458-77275459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541370324	chr16:77275473-77275474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564445614	chr16:77275507-77275508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578021717	chr16:77275508-77275509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67285321	chr16:77275516-77275517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563522016	chr16:77275537-77275538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11860607	chr16:77275589-77275590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs36098417	chr16:77275593-77275594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529605661	chr16:77275594-77275595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111990728	chr16:77275608-77275609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549254736	chr16:77275618-77275619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559575923	chr16:77275625-77275626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374739613	chr16:77275626-77275627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367729300	chr16:77275638-77275639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551327374	chr16:77275653-77275654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148565712	chr16:77275669-77275670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184123214	chr16:77275686-77275687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141962134	chr16:77275689-77275690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188628763	chr16:77275726-77275727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150663323	chr16:77275743-77275744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139116412	chr16:77275753-77275754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553307983	chr16:77275813-77275814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149904549	chr16:77275820-77275821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555710125	chr16:77275829-77275830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534725942	chr16:77275849-77275850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61078326	chr16:77275866-77275867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112127118	chr16:77275870-77275871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144530383	chr16:77275872-77275873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193235114	chr16:77275876-77275877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182695320	chr16:77275882-77275883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542764201	chr16:77275883-77275884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186792646	chr16:77275886-77275887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147842170	chr16:77275898-77275899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191923173	chr16:77275949-77275950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564874908	chr16:77275964-77275965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148896848	chr16:77275971-77275972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184010360	chr16:77276016-77276017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78047432	chr16:77276020-77276021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529937294	chr16:77276053-77276054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150981161	chr16:77276085-77276086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1428838	chr16:77276099-77276100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538904329	chr16:77276120-77276121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536591399	chr16:77276121-77276122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557915463	chr16:77276135-77276136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571609452	chr16:77276141-77276142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548355538	chr16:77276167-77276168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74025734	chr16:77276211-77276212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556355136	chr16:77276245-77276246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4451967	chr16:77276265-77276266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Barrett''s syndrome	19417022	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77273800-77277200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:77275200-77275400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:77275200-77275400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:77279400-77280800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:77279600-77280200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:77280000-77280600	Enhancers	Adipose Nuclei	Adipose
7	chr16:77280200-77280600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:77280600-77280800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:77280800-77284000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:77280800-77284000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:77281200-77282400	Enhancers	Osteobl	bone

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