Variant report

Variant	nsv9350
Chromosome Location	chr16:12674639-12678179
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	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:

Extended variants
information (count: 493 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148031855	chr16:12674641-12674642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185620653	chr16:12674644-12674645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536712618	chr16:12674681-12674682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556395711	chr16:12674685-12674686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576263693	chr16:12674688-12674689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532138642	chr16:12674702-12674703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs890899	chr16:12674704-12674705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs569176247	chr16:12674710-12674711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531402172	chr16:12674711-12674712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528808534	chr16:12674713-12674714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558627647	chr16:12674729-12674730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572283704	chr16:12674748-12674749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550964883	chr16:12674757-12674758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1864024	chr16:12674765-12674766	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs377669266	chr16:12674782-12674783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536313895	chr16:12674783-12674784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559513833	chr16:12674798-12674799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566712059	chr16:12674802-12674803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539062909	chr16:12674803-12674804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141741685	chr16:12674809-12674810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536974701	chr16:12674811-12674812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575921783	chr16:12674817-12674818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544802053	chr16:12674818-12674819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529612842	chr16:12674827-12674828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555163309	chr16:12674840-12674841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188485371	chr16:12674853-12674854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371047419	chr16:12674868-12674869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573420154	chr16:12674870-12674871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114433444	chr16:12674873-12674874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146016667	chr16:12674876-12674877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576755083	chr16:12674884-12674885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545832992	chr16:12674888-12674889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193052152	chr16:12674889-12674890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538326455	chr16:12674897-12674898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531535141	chr16:12674909-12674910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548177936	chr16:12674913-12674914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558270937	chr16:12674932-12674933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548095460	chr16:12674942-12674943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs118094905	chr16:12674953-12674954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376606694	chr16:12674955-12674956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138771999	chr16:12674956-12674957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141491178	chr16:12674957-12674958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs890900	chr16:12674962-12674963	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184232963	chr16:12674980-12674981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569286678	chr16:12674984-12674985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562754136	chr16:12674985-12674986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538509241	chr16:12674990-12674991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373698249	chr16:12675009-12675010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555302255	chr16:12675014-12675015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9922012	chr16:12675019-12675020	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12671000-12678400	Weak transcription	Gastric	stomach
2	chr16:12671200-12677600	Weak transcription	HepG2	liver
3	chr16:12674400-12675400	Enhancers	GM12878-XiMat	blood
4	chr16:12674400-12675600	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:12674600-12674800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:12674600-12677600	Weak transcription	Stomach Mucosa	stomach
7	chr16:12677600-12679000	Enhancers	Stomach Mucosa	stomach
8	chr16:12677600-12679800	Enhancers	HepG2	liver
9	chr16:12678000-12679000	Enhancers	K562	blood

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