Variant report

Variant	esv2467490
Chromosome Location	chr16:74288874-74290421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556058948	chr16:74288891-74288892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566047303	chr16:74288903-74288904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533514831	chr16:74288924-74288925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370775240	chr16:74288952-74288953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553353940	chr16:74288961-74288962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58317028	chr16:74289018-74289019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67101157	chr16:74289019-74289020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576487513	chr16:74289025-74289026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184062959	chr16:74289042-74289043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561990746	chr16:74289084-74289085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556084536	chr16:74289114-74289115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576217247	chr16:74289137-74289138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541744455	chr16:74289155-74289156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561931033	chr16:74289173-74289174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200133016	chr16:74289182-74289183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571729945	chr16:74289207-74289208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574857073	chr16:74289225-74289226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541391575	chr16:74289237-74289238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16973142	chr16:74289243-74289244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370518646	chr16:74289245-74289246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375362890	chr16:74289253-74289254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150434643	chr16:74289269-74289270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550276743	chr16:74289414-74289415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376913575	chr16:74289437-74289438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570133456	chr16:74289439-74289440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529454199	chr16:74289440-74289441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370531822	chr16:74289441-74289442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565983670	chr16:74289448-74289449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534992535	chr16:74289451-74289452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200816336	chr16:74289540-74289541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553339805	chr16:74289575-74289576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570161657	chr16:74289642-74289643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538718215	chr16:74289643-74289644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563729348	chr16:74289644-74289645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576073768	chr16:74289655-74289656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541980548	chr16:74289681-74289682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368231422	chr16:74289691-74289692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188456341	chr16:74289706-74289707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563051594	chr16:74289719-74289720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60986629	chr16:74289746-74289747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561477328	chr16:74289747-74289748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16973145	chr16:74289780-74289781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs180966790	chr16:74289807-74289808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577995866	chr16:74289814-74289815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149623350	chr16:74289818-74289819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563773507	chr16:74289844-74289845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10500583	chr16:74289877-74289878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549123981	chr16:74289890-74289891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559559645	chr16:74289892-74289893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74028209	chr16:74289928-74289929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	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
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74277600-74293000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:74290400-74290600	Enhancers	Primary B cells from cord blood	blood

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