Variant report

Variant	esv8589
Chromosome Location	chr16:82482363-82483102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr16:82482828-82483266	MCF-7	breast:	n/a	n/a
2	TAL1	chr16:82482990-82483024	K562	blood:	n/a	n/a
3	TEAD4	chr16:82482777-82483065	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82480682..82483219-chr16:82488097..82490415,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238321	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10514540	chr16:82482365-82482366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533090707	chr16:82482382-82482383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181381502	chr16:82482422-82482423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566159285	chr16:82482430-82482431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374845662	chr16:82482457-82482458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1424055	chr16:82482458-82482459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144233869	chr16:82482479-82482480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9938533	chr16:82482509-82482510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185996097	chr16:82482513-82482514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386793088	chr16:82482518-82482519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557572336	chr16:82482523-82482524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200376224	chr16:82482533-82482534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57668789	chr16:82482553-82482554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9938629	chr16:82482562-82482563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373170269	chr16:82482570-82482571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368739951	chr16:82482573-82482574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538888429	chr16:82482586-82482587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539950164	chr16:82482588-82482589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371867312	chr16:82482603-82482604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573238507	chr16:82482612-82482613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558738156	chr16:82482627-82482628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555651346	chr16:82482634-82482635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572261736	chr16:82482643-82482644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60694376	chr16:82482646-82482647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544069484	chr16:82482668-82482669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562741051	chr16:82482686-82482687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541149117	chr16:82482687-82482688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs8056491	chr16:82482689-82482690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545060681	chr16:82482690-82482691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370868011	chr16:82482693-82482694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61012144	chr16:82482698-82482699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12932157	chr16:82482705-82482706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372059882	chr16:82482709-82482710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58418930	chr16:82482715-82482716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8062883	chr16:82482717-82482718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57696555	chr16:82482721-82482722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562034840	chr16:82482750-82482751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529626210	chr16:82482783-82482784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543780353	chr16:82482791-82482792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550873212	chr16:82482801-82482802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569402183	chr16:82482804-82482805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539659150	chr16:82482807-82482808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563474488	chr16:82482812-82482813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532457264	chr16:82482828-82482829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7199874	chr16:82482835-82482836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs58590579	chr16:82482842-82482843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555840740	chr16:82482847-82482848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552880924	chr16:82482853-82482854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573970827	chr16:82482879-82482880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140636210	chr16:82482904-82482905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82481400-82483000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:82483000-82483200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr16:82483000-82483800	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links