Variant report

Variant	nsv9352
Chromosome Location	chr16:12710044-12711193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:
2	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
3	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
4	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
5	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:

Extended variants
information (count: 162 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs548903084	chr16:12710048-12710049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568630179	chr16:12710057-12710058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577985798	chr16:12710059-12710060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534409794	chr16:12710060-12710061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79953922	chr16:12710074-12710075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563440324	chr16:12710081-12710082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370180478	chr16:12710087-12710088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371883370	chr16:12710089-12710090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548656425	chr16:12710090-12710091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12162027	chr16:12710092-12710093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs59829122	chr16:12710097-12710098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149925405	chr16:12710098-12710099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112122560	chr16:12710103-12710104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141106708	chr16:12710109-12710110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549978325	chr16:12710111-12710112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569873471	chr16:12710135-12710136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9926518	chr16:12710137-12710138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555482965	chr16:12710142-12710143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144895320	chr16:12710150-12710151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529570411	chr16:12710154-12710155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534645572	chr16:12710165-12710166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191418211	chr16:12710197-12710198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578011980	chr16:12710199-12710200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561703372	chr16:12710218-12710219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543703722	chr16:12710221-12710222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563479517	chr16:12710230-12710231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573930447	chr16:12710238-12710239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9935877	chr16:12710239-12710240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562246400	chr16:12710244-12710245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527764097	chr16:12710252-12710253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115446909	chr16:12710257-12710258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375237646	chr16:12710272-12710273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374435471	chr16:12710281-12710282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12162081	chr16:12710282-12710283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533455295	chr16:12710292-12710293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550014700	chr16:12710296-12710297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377448752	chr16:12710297-12710298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187332215	chr16:12710300-12710301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535689709	chr16:12710328-12710329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138505345	chr16:12710349-12710350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75017150	chr16:12710350-12710351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534388765	chr16:12710355-12710356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28431261	chr16:12710364-12710365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143462470	chr16:12710377-12710378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191741068	chr16:12710388-12710389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79221500	chr16:12710389-12710390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148001287	chr16:12710405-12710406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183903349	chr16:12710408-12710409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566267149	chr16:12710412-12710413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542836351	chr16:12710424-12710425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12708000-12713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:12708400-12713600	Enhancers	HepG2	liver
3	chr16:12708600-12711200	Weak transcription	GM12878-XiMat	blood
4	chr16:12708600-12719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:12708800-12712600	Weak transcription	Placenta	Placenta
6	chr16:12709000-12711200	Weak transcription	Fetal Thymus	thymus
7	chr16:12709200-12712400	Weak transcription	A549	lung
8	chr16:12709400-12713200	Weak transcription	K562	blood

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