Variant report

Variant	esv2652423
Chromosome Location	chr16:48508681-48512467
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	REST	chr16:48512357-48512647	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr16:48512343-48512632	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr16:48512398-48512712	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr16:48512246-48512745	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr16:48512363-48512747	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr16:48512343-48512805	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000260688	TF binding region

Extended variants
information (count: 142 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190984874	chr16:48508695-48508696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557212898	chr16:48508712-48508713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572335018	chr16:48508743-48508744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539624990	chr16:48508758-48508759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542556832	chr16:48508826-48508827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77541318	chr16:48508827-48508828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182699124	chr16:48508830-48508831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573075618	chr16:48508877-48508878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111500576	chr16:48508878-48508879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76640511	chr16:48508941-48508942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76132280	chr16:48508946-48508947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77827743	chr16:48508953-48508954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555319532	chr16:48508954-48508955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79198486	chr16:48508959-48508960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79515640	chr16:48508965-48508966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78308285	chr16:48508966-48508967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76800181	chr16:48508983-48508984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76148494	chr16:48508993-48508994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79801312	chr16:48508997-48508998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561178778	chr16:48509005-48509006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79337912	chr16:48509007-48509008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141352639	chr16:48509008-48509009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77637263	chr16:48509019-48509020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543168203	chr16:48509025-48509026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79299697	chr16:48509029-48509030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550861870	chr16:48509039-48509040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75953366	chr16:48509064-48509065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74968440	chr16:48509069-48509070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527295526	chr16:48509083-48509084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547666661	chr16:48509084-48509085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564404091	chr16:48509095-48509096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75616832	chr16:48509101-48509102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74858695	chr16:48509105-48509106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564661888	chr16:48509114-48509115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112596297	chr16:48509115-48509116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76866281	chr16:48509123-48509124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549932405	chr16:48509267-48509268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149824668	chr16:48509386-48509387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372223986	chr16:48509407-48509408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112611845	chr16:48509521-48509522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183329575	chr16:48509527-48509528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12932772	chr16:48509609-48509610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115302225	chr16:48509673-48509674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534699042	chr16:48509773-48509774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530644157	chr16:48509851-48509852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372637516	chr16:48509867-48509868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557909430	chr16:48509959-48509960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572396207	chr16:48509969-48509970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187230090	chr16:48509970-48509971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116782153	chr16:48509974-48509975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48508200-48512800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:48512000-48513600	Enhancers	Placenta	Placenta
3	chr16:48512000-48514000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr16:48512200-48513200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:48512400-48512600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:48512400-48513400	Enhancers	A549	lung
7	chr16:48512400-48513600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:48512400-48513600	Bivalent Enhancer	HepG2	liver
9	chr16:48512400-48514200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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