Variant report

Variant	nsv984356
Chromosome Location	chr16:75739287-75743569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75738452..75740473-chr16:75740490..75742244,2	MCF-7	breast:
2	chr16:75739275..75740832-chr16:75744437..75746332,2	K562	blood:
3	chr16:75741611..75743630-chr16:75751631..75753594,2	K562	blood:
4	chr16:75738452..75740473-chr16:75740490..75742244,2	MCF-7	breast:

Extended variants
information (count: 178 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs527794907	chr16:75739334-75739335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140582596	chr16:75739340-75739341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551741181	chr16:75739346-75739347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150493054	chr16:75739349-75739350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537006132	chr16:75739399-75739400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138268635	chr16:75739410-75739411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561366427	chr16:75739411-75739412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573651733	chr16:75739430-75739431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189169771	chr16:75739440-75739441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530359557	chr16:75739528-75739529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553133690	chr16:75739535-75739536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550092074	chr16:75739556-75739557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142983551	chr16:75739558-75739559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545291584	chr16:75739608-75739609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565189032	chr16:75739611-75739612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575854953	chr16:75739616-75739617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544562683	chr16:75739620-75739621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561150869	chr16:75739659-75739660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530190117	chr16:75739667-75739668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181890886	chr16:75739672-75739673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185069630	chr16:75739710-75739711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112521255	chr16:75739761-75739762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189880028	chr16:75739775-75739776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571526852	chr16:75739784-75739785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137922357	chr16:75739811-75739812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142461504	chr16:75739850-75739851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112690023	chr16:75739862-75739863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536334841	chr16:75739876-75739877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148205315	chr16:75739910-75739911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79769590	chr16:75739922-75739923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376788880	chr16:75739955-75739956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116981815	chr16:75739965-75739966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558739883	chr16:75739998-75739999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575869707	chr16:75740090-75740091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181229629	chr16:75740094-75740095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71394232	chr16:75740127-75740128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554935637	chr16:75740136-75740137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574050623	chr16:75740216-75740217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574781653	chr16:75740223-75740224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536371453	chr16:75740224-75740225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186694511	chr16:75740233-75740234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374178039	chr16:75740246-75740247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1030264	chr16:75740249-75740250	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191282045	chr16:75740260-75740261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369402776	chr16:75740272-75740273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117670359	chr16:75740308-75740309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564959682	chr16:75740340-75740341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373195830	chr16:75740343-75740344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550641213	chr16:75740361-75740362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567249578	chr16:75740367-75740368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21364760	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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75738800-75741200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:75739200-75743600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:75741000-75741400	Enhancers	Brain Germinal Matrix	brain
4	chr16:75741200-75741600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:75741600-75742600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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