Variant report

Variant	esv3441437
Chromosome Location	chr16:33975855-34022489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6485 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:6485 , 50 per page) page: 1 2 3 4 5 6 7 ... 130

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540098204	chr16:33975857-33975858	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558479920	chr16:33975865-33975866	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs62027109	chr16:33975873-33975874	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs386790419	chr16:33975883-33975884	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs141706750	chr16:33975884-33975885	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62027111	chr16:33975885-33975886	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112564056	chr16:33975894-33975895	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62027112	chr16:33975913-33975914	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs80187943	chr16:33975920-33975921	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544008485	chr16:33975929-33975930	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138733017	chr16:33975933-33975934	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150908569	chr16:33975936-33975937	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143746904	chr16:33975940-33975941	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs367740334	chr16:33975943-33975944	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141902290	chr16:33975944-33975945	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs367705601	chr16:33975945-33975946	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112206702	chr16:33975946-33975947	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs367818481	chr16:33975953-33975954	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs80096407	chr16:33975957-33975958	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201383477	chr16:33975965-33975966	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs140860981	chr16:33975973-33975974	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs150417037	chr16:33975974-33975975	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555960147	chr16:33975979-33975980	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs149410344	chr16:33975988-33975989	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs7499284	chr16:33975989-33975990	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs79113380	chr16:33975991-33975992	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs75254948	chr16:33975994-33975995	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62027113	chr16:33976002-33976003	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79620868	chr16:33976003-33976004	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146923217	chr16:33976004-33976005	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs138299474	chr16:33976017-33976018	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs112862279	chr16:33976029-33976030	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs111658110	chr16:33976032-33976033	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7498625	chr16:33976042-33976043	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs371529232	chr16:33976043-33976044	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs62027114	chr16:33976062-33976063	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs80057557	chr16:33976065-33976066	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs78548867	chr16:33976067-33976068	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77629590	chr16:33976068-33976069	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs62027115	chr16:33976072-33976073	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563008557	chr16:33976077-33976078	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs79847294	chr16:33976082-33976083	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs76290426	chr16:33976092-33976093	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77146579	chr16:33976095-33976096	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs113698657	chr16:33976097-33976098	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs541139855	chr16:33976100-33976101	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs80028851	chr16:33976102-33976103	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs79403593	chr16:33976104-33976105	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs77327183	chr16:33976111-33976112	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs62027116	chr16:33976112-33976113	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Ductal carcinoma	22052326	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:33958000-33979600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr16:33959600-33976400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr16:33959600-33979600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr16:33959800-33979800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:33962600-33979800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr16:33964200-33979800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr16:33964200-33979800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr16:33965200-33979600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:33966800-33979600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr16:33967000-33979800	ZNF genes & repeats	Liver	Liver
11	chr16:33967800-33976200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr16:33968000-33979400	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr16:33968200-33976000	ZNF genes & repeats	Brain Anterior Caudate	brain
14	chr16:33968200-33977200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:33969400-33979800	ZNF genes & repeats	Psoas Muscle	Psoas
16	chr16:33969600-33976000	ZNF genes & repeats	Fetal Brain Male	brain
17	chr16:33970600-33976000	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr16:33970600-33977000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:33970800-33976000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:33970800-33976000	ZNF genes & repeats	Left Ventricle	heart
21	chr16:33970800-33976200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr16:33970800-33976400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr16:33970800-33977000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr16:33970800-33977000	ZNF genes & repeats	Fetal Heart	heart
25	chr16:33970800-33977200	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr16:33970800-33978600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:33971000-33976000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr16:33971000-33976000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:33971000-33976200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr16:33971000-33976200	ZNF genes & repeats	Fetal Lung	lung
31	chr16:33971000-33976400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr16:33971000-33977000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
33	chr16:33971000-33977200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr16:33972200-33976000	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr16:33972400-33979600	ZNF genes & repeats	Dnd41	blood
36	chr16:33972800-33976000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:33973200-33976200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:33973400-33976000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr16:33973400-33976000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
40	chr16:33973400-33976000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
41	chr16:33973400-33976000	ZNF genes & repeats	Small Intestine	intestine
42	chr16:33973400-33976200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:33973400-33976200	ZNF genes & repeats	HUVEC	blood vessel
44	chr16:33973600-33976000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:33973600-33976000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr16:33973600-33976000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:33973600-33976000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
48	chr16:33973600-33976000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
49	chr16:33973600-33976000	Bivalent/Poised TSS	Right Atrium	heart
50	chr16:33973600-33976000	ZNF genes & repeats	NH-A	brain

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