Variant report

Variant	esv20582
Chromosome Location	chr16:12678973-12680315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 218 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs150125843	chr16:12678974-12678975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138264737	chr16:12678976-12678977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11642724	chr16:12678977-12678978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs555627137	chr16:12678980-12678981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572371763	chr16:12678986-12678987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376822366	chr16:12678989-12678990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192093845	chr16:12679009-12679010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12934828	chr16:12679015-12679016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533386069	chr16:12679021-12679022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543146688	chr16:12679029-12679030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563424738	chr16:12679048-12679049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528865705	chr16:12679050-12679051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11075104	chr16:12679063-12679064	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185473499	chr16:12679068-12679069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528347952	chr16:12679071-12679072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189946389	chr16:12679073-12679074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181530644	chr16:12679077-12679078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184652679	chr16:12679082-12679083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149616606	chr16:12679083-12679084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144364347	chr16:12679086-12679087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11075105	chr16:12679096-12679097	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs139027069	chr16:12679105-12679106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572114131	chr16:12679116-12679117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188351768	chr16:12679143-12679144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180704673	chr16:12679145-12679146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578092888	chr16:12679146-12679147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544035789	chr16:12679164-12679165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186449838	chr16:12679166-12679167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573635171	chr16:12679175-12679176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542765868	chr16:12679187-12679188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61150656	chr16:12679191-12679192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386384288	chr16:12679192-12679193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376393522	chr16:12679195-12679196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397951410	chr16:12679196-12679197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61137403	chr16:12679199-12679200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376087455	chr16:12679201-12679202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141920481	chr16:12679208-12679209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191215988	chr16:12679209-12679210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375705707	chr16:12679214-12679215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551678949	chr16:12679231-12679232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370411550	chr16:12679233-12679234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35353001	chr16:12679235-12679236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140785908	chr16:12679236-12679237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572220563	chr16:12679237-12679238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72292629	chr16:12679241-12679242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112819912	chr16:12679242-12679243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377162511	chr16:12679247-12679248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533043792	chr16:12679252-12679253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550708552	chr16:12679279-12679280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76307245	chr16:12679282-12679283	Enhancers Weak transcription	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	chr16:12677600-12679000	Enhancers	Stomach Mucosa	stomach
2	chr16:12677600-12679800	Enhancers	HepG2	liver
3	chr16:12678000-12679000	Enhancers	K562	blood
4	chr16:12678400-12679400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:12679000-12680200	Weak transcription	Stomach Mucosa	stomach
6	chr16:12679800-12680400	Enhancers	Fetal Brain Male	brain
7	chr16:12679800-12681000	Weak transcription	HepG2	liver
8	chr16:12680200-12680400	Enhancers	Stomach Mucosa	stomach

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