Variant report

Variant	esv3442432
Chromosome Location	chr16:52060676-52062949
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	POLR2A	chr16:52061093-52061225	A549	lung:	n/a	n/a
2	POLR2A	chr16:52062670-52062682	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr16:52060895-52061015	MCF10A-Er-Src	breast:	n/a	n/a
4	ZNF274	chr16:52061337-52061630	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-152O14.2.1-2	chr16:52060901-52061043	XLOC_011939
2	lnc-RP11-152O14.5.1-1	chr16:52060901-52061282	NONHSAT142493

Variant related genes	Relation type
C16orf97	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561850163	chr16:52060677-52060678	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527641092	chr16:52060766-52060767	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547787349	chr16:52060773-52060774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs146821084	chr16:52060777-52060778	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189054214	chr16:52060781-52060782	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550094189	chr16:52060826-52060827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570300018	chr16:52060827-52060828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535539479	chr16:52060869-52060870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555453351	chr16:52060881-52060882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565787553	chr16:52060882-52060883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550299137	chr16:52060883-52060884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181779361	chr16:52060925-52060926	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs568494137	chr16:52060946-52060947	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs534589979	chr16:52060951-52060952	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs557755917	chr16:52061000-52061001	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs113845775	chr16:52061043-52061044	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs12149256	chr16:52061047-52061048	Enhancers	lncRNA	n/a	Overlapped CNVs	mRNA abundance
18	rs184930335	chr16:52061056-52061057	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs111610611	chr16:52061089-52061090	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs117092817	chr16:52061098-52061099	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs561811185	chr16:52061099-52061100	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs377442950	chr16:52061102-52061103	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs144400974	chr16:52061129-52061130	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs573105674	chr16:52061130-52061131	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs538785637	chr16:52061153-52061154	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs541042310	chr16:52061158-52061159	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs181083823	chr16:52061174-52061175	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs533446455	chr16:52061176-52061177	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs550499398	chr16:52061239-52061240	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs34419501	chr16:52061242-52061243	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs34483608	chr16:52061266-52061267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs35418779	chr16:52061349-52061350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs549615368	chr16:52061356-52061357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs565754467	chr16:52061384-52061385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs555536411	chr16:52061440-52061441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs375239557	chr16:52061486-52061487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs557453866	chr16:52061500-52061501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs114133917	chr16:52061520-52061521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs556796657	chr16:52061559-52061560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201145351	chr16:52061595-52061596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs35839853	chr16:52061622-52061623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
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
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Retinoblastoma	19183342	CNVD
Myelofibrosis	22110671	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52060400-52060800	Active TSS	Gastric	stomach
2	chr16:52060800-52061200	Enhancers	Gastric	stomach

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