Variant report

Variant	esv998199
Chromosome Location	chr16:79964705-79965546
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	chr16:79946693..79948591-chr16:79965174..79967868,2	K562	blood:
2	chr16:79963167..79965243-chr16:80003069..80005139,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146294153	chr16:79964706-79964707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562287722	chr16:79964735-79964736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533023224	chr16:79964753-79964754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545306856	chr16:79964757-79964758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139633028	chr16:79964758-79964759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182750752	chr16:79964779-79964780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368466062	chr16:79964789-79964790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536837654	chr16:79964797-79964798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150018837	chr16:79964811-79964812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145237398	chr16:79964824-79964825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531787007	chr16:79964833-79964834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550179195	chr16:79964835-79964836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138811719	chr16:79964838-79964839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539091519	chr16:79964841-79964842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551310883	chr16:79964850-79964851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566611712	chr16:79964863-79964864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533842484	chr16:79964865-79964866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555280248	chr16:79964869-79964870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573593364	chr16:79964871-79964872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556401010	chr16:79964902-79964903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80300298	chr16:79964904-79964905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114097885	chr16:79964907-79964908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577679398	chr16:79964921-79964922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545060514	chr16:79964946-79964947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201801765	chr16:79964964-79964965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560529819	chr16:79964971-79964972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572640033	chr16:79964987-79964988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138093357	chr16:79964989-79964990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187438700	chr16:79964991-79964992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148609578	chr16:79964992-79964993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372436315	chr16:79964999-79965000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190005599	chr16:79965028-79965029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371145045	chr16:79965033-79965034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535847883	chr16:79965055-79965056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182637847	chr16:79965057-79965058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549358752	chr16:79965066-79965067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532499453	chr16:79965071-79965072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376337885	chr16:79965110-79965111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148468599	chr16:79965111-79965112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187823124	chr16:79965115-79965116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192502599	chr16:79965116-79965117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184478320	chr16:79965117-79965118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538315755	chr16:79965128-79965129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548744410	chr16:79965135-79965136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188602268	chr16:79965140-79965141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192566078	chr16:79965147-79965148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555908537	chr16:79965157-79965158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577525163	chr16:79965159-79965160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538247444	chr16:79965214-79965215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55684118	chr16:79965216-79965217	Weak transcription	n/a	n/a	Overlapped CNVs	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	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79961400-79965000	Enhancers	Ovary	ovary
2	chr16:79962400-79965600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr16:79962800-79965000	Enhancers	Fetal Lung	lung
4	chr16:79963800-79964800	Enhancers	Aorta	Aorta
5	chr16:79964000-79965800	Weak transcription	Fetal Intestine Large	intestine
6	chr16:79964400-79965600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:79964400-79967200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:79965000-79965600	Weak transcription	Ovary	ovary
9	chr16:79965000-79970200	Weak transcription	Fetal Lung	lung
10	chr16:79965400-79968800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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