Variant report

Variant	esv2750773
Chromosome Location	chr16:48830679-48831704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180858404	chr16:48830759-48830760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542301258	chr16:48830785-48830786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143434268	chr16:48830799-48830800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374962725	chr16:48830844-48830845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186150362	chr16:48830864-48830865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147132399	chr16:48830890-48830891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4344742	chr16:48830919-48830920	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544116334	chr16:48830952-48830953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563495011	chr16:48830955-48830956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529497311	chr16:48830985-48830986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529455958	chr16:48830992-48830993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2058816	chr16:48831015-48831016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs67894444	chr16:48831023-48831024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11279602	chr16:48831026-48831027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374834509	chr16:48831029-48831030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1420706	chr16:48831032-48831033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567862521	chr16:48831066-48831067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34768728	chr16:48831108-48831109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527275152	chr16:48831205-48831206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190955379	chr16:48831221-48831222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369248184	chr16:48831228-48831229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570444317	chr16:48831303-48831304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539328205	chr16:48831304-48831305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141024255	chr16:48831372-48831373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545549453	chr16:48831393-48831394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563850246	chr16:48831397-48831398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535691566	chr16:48831453-48831454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555873465	chr16:48831495-48831496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533328774	chr16:48831515-48831516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572606894	chr16:48831601-48831602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3103024	chr16:48831611-48831612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557838050	chr16:48831616-48831617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376823257	chr16:48831648-48831649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546303539	chr16:48831695-48831696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48824600-48837600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:48829000-48831000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr16:48829200-48831400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr16:48829200-48831400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr16:48830000-48830800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr16:48830000-48831200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr16:48830000-48831400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr16:48830600-48831000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:48830800-48831200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr16:48831200-48833800	Weak transcription	H1 Cell Line	embryonic stem cell

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