Variant report

Variant	esv3331749
Chromosome Location	chr16:46870070-46873285
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	CEBPB	chr16:46870574-46871173	HepG2	liver:	n/a	chr16:46870988-46870999
2	CEBPB	chr16:46870826-46871157	IMR90	lung:	n/a	chr16:46870988-46870999
3	CEBPB	chr16:46870822-46871136	A549	lung:	n/a	chr16:46870988-46870999
4	CEBPB	chr16:46870941-46871021	H1-hESC	embryonic stem cell:	n/a	chr16:46870988-46870999
5	CEBPB	chr16:46870817-46871176	A549	lung:	n/a	chr16:46870988-46870999
6	CEBPB	chr16:46870849-46871151	Hela-S3	cervix:	n/a	chr16:46870988-46870999
7	CEBPB	chr16:46870820-46871164	K562	blood:	n/a	chr16:46870988-46870999
8	CEBPB	chr16:46870863-46871061	HepG2	liver:	n/a	chr16:46870988-46870999
9	CTCF	chr16:46871848-46871896	GM10248	blood:	n/a	n/a
10	FOS	chr16:46870504-46870855	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr16:46870573-46870786	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr16:46870508-46870971	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr16:46870521-46870812	MCF10A-Er-Src	breast:	n/a	n/a
14	JUND	chr16:46870620-46870727	HepG2	liver:	n/a	chr16:46870688-46870699
15	STAT3	chr16:46870586-46870802	MCF10A-Er-Src	breast:	n/a	chr16:46870662-46870673
16	STAT3	chr16:46870573-46870837	MCF10A-Er-Src	breast:	n/a	chr16:46870662-46870673
17	STAT3	chr16:46870586-46870814	MCF10A-Er-Src	breast:	n/a	chr16:46870662-46870673
18	STAT3	chr16:46870537-46870814	MCF10A-Er-Src	breast:	n/a	chr16:46870662-46870673

Variant related genes	Relation type
C16orf87	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187195761	chr16:46870071-46870072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143935090	chr16:46870113-46870114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560609909	chr16:46870117-46870118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111979830	chr16:46870133-46870134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553100050	chr16:46870138-46870139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369658024	chr16:46870211-46870212	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs62057628	chr16:46870213-46870214	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62057629	chr16:46870215-46870216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546178481	chr16:46870218-46870219	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs570945206	chr16:46870228-46870229	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539723064	chr16:46870254-46870255	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552020461	chr16:46870255-46870256	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs808436	chr16:46870260-46870261	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537610118	chr16:46870328-46870329	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs190838568	chr16:46870345-46870346	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs528767953	chr16:46870403-46870404	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182546733	chr16:46870405-46870406	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553391244	chr16:46870459-46870460	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578092655	chr16:46870492-46870493	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138986470	chr16:46870516-46870517	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563565282	chr16:46870538-46870539	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114342320	chr16:46870643-46870644	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575460405	chr16:46870661-46870662	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542803522	chr16:46870748-46870749	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560787369	chr16:46870752-46870753	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528157889	chr16:46870849-46870850	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188015909	chr16:46870889-46870890	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143012520	chr16:46870912-46870913	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193062481	chr16:46870932-46870933	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184786850	chr16:46870963-46870964	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs808435	chr16:46870997-46870998	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531157607	chr16:46871009-46871010	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs549590872	chr16:46871092-46871093	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs563370102	chr16:46871099-46871100	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs144110941	chr16:46871131-46871132	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs148280028	chr16:46871134-46871135	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs553477186	chr16:46871222-46871223	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs141250134	chr16:46871238-46871239	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs545761259	chr16:46871365-46871366	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538985226	chr16:46871386-46871387	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs557082028	chr16:46871423-46871424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192138855	chr16:46871428-46871429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150782240	chr16:46871434-46871435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183812974	chr16:46871437-46871438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554321119	chr16:46871442-46871443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572673075	chr16:46871495-46871496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540051353	chr16:46871722-46871723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139090130	chr16:46871737-46871738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36026154	chr16:46871739-46871740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34165660	chr16:46871746-46871747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46865600-46878200	Weak transcription	Right Atrium	heart
2	chr16:46866200-46870200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr16:46866400-46870600	Weak transcription	GM12878-XiMat	blood
4	chr16:46867000-46873000	Weak transcription	Liver	Liver
5	chr16:46867400-46871000	Enhancers	Primary B cells from cord blood	blood
6	chr16:46867400-46871000	Enhancers	Primary B cells from peripheral blood	blood
7	chr16:46868200-46870600	Weak transcription	HepG2	liver
8	chr16:46870000-46870400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr16:46870200-46870600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:46870200-46871400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr16:46870400-46871000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr16:46870600-46871000	Enhancers	GM12878-XiMat	blood
13	chr16:46870600-46871400	Enhancers	HepG2	liver
14	chr16:46871000-46871800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr16:46871400-46871600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr16:46871400-46873000	Weak transcription	HepG2	liver
17	chr16:46873000-46873600	Enhancers	HepG2	liver
18	chr16:46873000-46874800	Enhancers	Liver	Liver

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