Variant report

Variant	esv3351971
Chromosome Location	chr16:33973747-34022268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6975 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:6975 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79267173	chr16:33973748-33973749	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4033528	chr16:33973752-33973753	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs79440642	chr16:33973753-33973754	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs74188329	chr16:33973754-33973755	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs74201950	chr16:33973755-33973756	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs80336042	chr16:33973757-33973758	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs74569288	chr16:33973758-33973759	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113953790	chr16:33973759-33973760	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11510288	chr16:33973760-33973761	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs377306026	chr16:33973761-33973762	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs62031175	chr16:33973768-33973769	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144955682	chr16:33973769-33973770	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148763633	chr16:33973771-33973772	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs74199264	chr16:33973774-33973775	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs382590	chr16:33973775-33973776	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146866815	chr16:33973777-33973778	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs370862089	chr16:33973785-33973786	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs62031176	chr16:33973786-33973787	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs11510293	chr16:33973789-33973790	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146554590	chr16:33973791-33973792	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs71245726	chr16:33973793-33973794	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146957413	chr16:33973794-33973795	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs113471499	chr16:33973797-33973798	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140980356	chr16:33973798-33973799	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs11510289	chr16:33973803-33973804	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs74197977	chr16:33973805-33973806	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs62031177	chr16:33973807-33973808	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs605334	chr16:33973817-33973818	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs375324698	chr16:33973819-33973820	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113263415	chr16:33973826-33973827	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs201811763	chr16:33973827-33973828	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370328056	chr16:33973828-33973829	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs199947226	chr16:33973833-33973834	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs368833989	chr16:33973835-33973836	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550734821	chr16:33973836-33973837	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200965150	chr16:33973838-33973839	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs74209151	chr16:33973840-33973841	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs62031178	chr16:33973842-33973843	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs71208214	chr16:33973847-33973848	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145972848	chr16:33973851-33973852	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs200500503	chr16:33973854-33973855	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs569124806	chr16:33973857-33973858	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138927120	chr16:33973863-33973864	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs142923368	chr16:33973866-33973867	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112259267	chr16:33973879-33973880	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs202031442	chr16:33973885-33973886	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147348356	chr16:33973887-33973888	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs148393943	chr16:33973888-33973889	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs141642626	chr16:33973894-33973895	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs535905474	chr16:33973895-33973896	ZNF genes & repeats Bivalent/Poised 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:361 , 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	chr16:33971000-33974200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:33971000-33975800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
29	chr16:33971000-33976000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr16:33971000-33976000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:33971000-33976200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr16:33971000-33976200	ZNF genes & repeats	Fetal Lung	lung
33	chr16:33971000-33976400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr16:33971000-33977000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
35	chr16:33971000-33977200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr16:33972200-33976000	ZNF genes & repeats	Brain Substantia Nigra	brain
37	chr16:33972400-33979600	ZNF genes & repeats	Dnd41	blood
38	chr16:33972800-33976000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:33973200-33976200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:33973400-33975400	ZNF genes & repeats	Right Ventricle	heart
41	chr16:33973400-33975600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
42	chr16:33973400-33975600	ZNF genes & repeats	HMEC	breast
43	chr16:33973400-33975600	ZNF genes & repeats	NHDF-Ad	bronchial
44	chr16:33973400-33975800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr16:33973400-33975800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr16:33973400-33975800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:33973400-33975800	ZNF genes & repeats	Brain Angular Gyrus	brain
48	chr16:33973400-33975800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
49	chr16:33973400-33975800	ZNF genes & repeats	Brain Hippocampus Middle	brain
50	chr16:33973400-33975800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain

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