Variant report

Variant	esv3364135
Chromosome Location	chr16:46391025-46403755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5691 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:5691 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs68177467	chr16:46391025-46391026	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4598934	chr16:46391026-46391027	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs28801369	chr16:46391027-46391028	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs28791310	chr16:46391028-46391029	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4966703	chr16:46391029-46391030	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs28806009	chr16:46391030-46391031	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs28769692	chr16:46391031-46391032	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4967586	chr16:46391032-46391033	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs28775293	chr16:46391033-46391034	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28826119	chr16:46391034-46391035	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs28752283	chr16:46391035-46391036	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs9708818	chr16:46391036-46391037	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs28823012	chr16:46391038-46391039	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs28815493	chr16:46391039-46391040	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28845791	chr16:46391040-46391041	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4967587	chr16:46391041-46391042	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs28750456	chr16:46391042-46391043	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs28853358	chr16:46391043-46391044	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4967588	chr16:46391044-46391045	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs28810720	chr16:46391046-46391047	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs28847608	chr16:46391047-46391048	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs4486922	chr16:46391048-46391049	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs28834475	chr16:46391050-46391051	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs28819764	chr16:46391051-46391052	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs28829987	chr16:46391052-46391053	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4458023	chr16:46391053-46391054	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs138207885	chr16:46391054-46391055	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs28788636	chr16:46391055-46391056	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9674146	chr16:46391056-46391057	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs59562691	chr16:46391057-46391058	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs56324490	chr16:46391059-46391060	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs4967589	chr16:46391061-46391062	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs28762164	chr16:46391062-46391063	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs28829883	chr16:46391063-46391064	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs28802992	chr16:46391064-46391065	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs9673614	chr16:46391066-46391067	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs9328671	chr16:46391067-46391068	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs28752221	chr16:46391068-46391069	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs28814049	chr16:46391069-46391070	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs28853660	chr16:46391070-46391071	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs9652758	chr16:46391071-46391072	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs59193642	chr16:46391072-46391073	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs28855695	chr16:46391073-46391074	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs28791783	chr16:46391075-46391076	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs28793114	chr16:46391076-46391077	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs28794583	chr16:46391077-46391078	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs55923102	chr16:46391078-46391079	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7201052	chr16:46391079-46391080	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs9708776	chr16:46391080-46391081	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs28783390	chr16:46391081-46391082	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46393400	ZNF genes & repeats	Aorta	Aorta
2	chr16:46385800-46397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr16:46385800-46397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr16:46385800-46397000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:46385800-46397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr16:46385800-46397000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr16:46385800-46397000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr16:46385800-46397000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr16:46385800-46397000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:46385800-46397000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:46385800-46397000	ZNF genes & repeats	Liver	Liver
14	chr16:46385800-46397000	ZNF genes & repeats	Colon Smooth Muscle	Colon
15	chr16:46385800-46397000	ZNF genes & repeats	Fetal Brain Male	brain
16	chr16:46385800-46397000	ZNF genes & repeats	Left Ventricle	heart
17	chr16:46385800-46397000	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr16:46385800-46397000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr16:46385800-46397000	ZNF genes & repeats	Small Intestine	intestine
20	chr16:46385800-46397000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr16:46385800-46397200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr16:46385800-46397600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr16:46386000-46395600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr16:46386000-46397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:46386000-46397000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr16:46386000-46397000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
28	chr16:46386000-46397000	ZNF genes & repeats	Gastric	stomach
29	chr16:46386800-46397000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr16:46387600-46391800	ZNF genes & repeats	Hela-S3	cervix
31	chr16:46387600-46394600	ZNF genes & repeats	A549	lung
32	chr16:46387600-46395600	ZNF genes & repeats	Fetal Heart	heart
33	chr16:46387600-46397000	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr16:46387600-46397000	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr16:46387600-46397000	ZNF genes & repeats	Fetal Lung	lung
36	chr16:46387600-46397000	ZNF genes & repeats	NH-A	brain
37	chr16:46388000-46394600	ZNF genes & repeats	HSMMtube	muscle
38	chr16:46388000-46397000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:46388000-46397000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:46388000-46397000	ZNF genes & repeats	Brain Germinal Matrix	brain
41	chr16:46388000-46397000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr16:46388000-46397000	ZNF genes & repeats	Dnd41	blood
43	chr16:46388200-46393400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:46388200-46393400	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr16:46388200-46393400	ZNF genes & repeats	K562	blood
46	chr16:46388200-46396800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:46388200-46397000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:46388200-46397000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr16:46388200-46397000	ZNF genes & repeats	Ovary	ovary
50	chr16:46388400-46393400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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