Variant report

Variant	esv20204
Chromosome Location	chr16:12710942-12712501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12667518..12668062-chr16:12712002..12712507,2	MCF-7	breast:
2	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
3	chr16:12711260..12713112-chr16:12746469..12749358,2	K562	blood:
4	chr16:12712125..12713836-chr16:12719927..12722157,2	K562	blood:
5	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
6	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:

Extended variants
information (count: 225 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573461211	chr16:12710942-12710943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545640152	chr16:12710943-12710944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7199918	chr16:12710955-12710956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575905621	chr16:12710957-12710958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530630892	chr16:12710964-12710965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12708762	chr16:12710965-12710966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs113992552	chr16:12710969-12710970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372775973	chr16:12710970-12710971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559930571	chr16:12710972-12710973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561034937	chr16:12710976-12710977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139673524	chr16:12710979-12710980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374508433	chr16:12710993-12710994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17226949	chr16:12710994-12710995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566679344	chr16:12710997-12710998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368919621	chr16:12711002-12711003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78727741	chr16:12711005-12711006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551967700	chr16:12711015-12711016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13338314	chr16:12711017-12711018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76067098	chr16:12711019-12711020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13338316	chr16:12711025-12711026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186988269	chr16:12711037-12711038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536278185	chr16:12711047-12711048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77736025	chr16:12711057-12711058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17227019	chr16:12711058-12711059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376121277	chr16:12711061-12711062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575955400	chr16:12711065-12711066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544810339	chr16:12711069-12711070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140427643	chr16:12711076-12711077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370587981	chr16:12711079-12711080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560851852	chr16:12711081-12711082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13333850	chr16:12711088-12711089	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546297536	chr16:12711089-12711090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7199607	chr16:12711091-12711092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs59670495	chr16:12711098-12711099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548906323	chr16:12711101-12711102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144694380	chr16:12711111-12711112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568605936	chr16:12711113-12711114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568804712	chr16:12711129-12711130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537686899	chr16:12711139-12711140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539172813	chr16:12711149-12711150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191020977	chr16:12711156-12711157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13334919	chr16:12711157-12711158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553103306	chr16:12711158-12711159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183170945	chr16:12711166-12711167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539031269	chr16:12711168-12711169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567411854	chr16:12711179-12711180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534507898	chr16:12711182-12711183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559332909	chr16:12711189-12711190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575993459	chr16:12711193-12711194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544844672	chr16:12711204-12711205	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:11 , 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
9	chr16:12711200-12712600	Enhancers	GM12878-XiMat	blood
10	chr16:12711200-12713600	Enhancers	Fetal Thymus	thymus
11	chr16:12712400-12712600	Enhancers	A549	lung

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