Variant report

Variant	esv3351859
Chromosome Location	chr16:33968520-34022149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8177 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:8177 , 50 per page) page: 1 2 3 4 5 6 7 ... 164

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544509116	chr16:33968520-33968521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs74758991	chr16:33968521-33968522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76732946	chr16:33968533-33968534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs74875918	chr16:33968544-33968545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562502391	chr16:33968546-33968547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs76990033	chr16:33968547-33968548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs145181755	chr16:33968553-33968554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs529914793	chr16:33968564-33968565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75616824	chr16:33968565-33968566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs143249762	chr16:33968566-33968567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs80272267	chr16:33968567-33968568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs76715225	chr16:33968578-33968579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs76920530	chr16:33968584-33968585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs28483474	chr16:33968597-33968598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567752660	chr16:33968601-33968602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200520053	chr16:33968602-33968603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs528631848	chr16:33968603-33968604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs77940749	chr16:33968604-33968605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76082684	chr16:33968615-33968616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200243139	chr16:33968625-33968626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs4054323	chr16:33968626-33968627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113572649	chr16:33968627-33968628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111419244	chr16:33968641-33968642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571636198	chr16:33968654-33968655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs538930603	chr16:33968664-33968665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113271364	chr16:33968666-33968667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs143733574	chr16:33968679-33968680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs383878	chr16:33968683-33968684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs375021202	chr16:33968689-33968690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs9708683	chr16:33968690-33968691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201412407	chr16:33968719-33968720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62030492	chr16:33968720-33968721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372044651	chr16:33968724-33968725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs374951766	chr16:33968731-33968732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs2323824	chr16:33968741-33968742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200777752	chr16:33968764-33968765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs367644018	chr16:33968769-33968770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557645828	chr16:33968774-33968775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs371692639	chr16:33968775-33968776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs375923758	chr16:33968779-33968780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569063173	chr16:33968780-33968781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201764538	chr16:33968786-33968787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs368696790	chr16:33968789-33968790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs2117440	chr16:33968790-33968791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs539629928	chr16:33968795-33968796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200200987	chr16:33968796-33968797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200537182	chr16:33968799-33968800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113257912	chr16:33968800-33968801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146646911	chr16:33968804-33968805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs572590776	chr16:33968808-33968809	ZNF genes & repeats	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:393 , 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	chr16:33962600-33970000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:33962600-33979800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr16:33964200-33979800	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr16:33964200-33979800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr16:33965200-33979600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:33966800-33979600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr16:33967000-33979800	ZNF genes & repeats	Liver	Liver
12	chr16:33967800-33976200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr16:33968000-33968600	ZNF genes & repeats	NHDF-Ad	bronchial
14	chr16:33968000-33971600	ZNF genes & repeats	Brain Substantia Nigra	brain
15	chr16:33968000-33971800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:33968000-33979400	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr16:33968200-33968600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
18	chr16:33968200-33968800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
19	chr16:33968200-33968800	ZNF genes & repeats	Fetal Heart	heart
20	chr16:33968200-33969800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr16:33968200-33976000	ZNF genes & repeats	Brain Anterior Caudate	brain
22	chr16:33968200-33977200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:33969400-33970200	ZNF genes & repeats	Colon Smooth Muscle	Colon
24	chr16:33969400-33979800	ZNF genes & repeats	Psoas Muscle	Psoas
25	chr16:33969600-33969800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr16:33969600-33976000	ZNF genes & repeats	Fetal Brain Male	brain
27	chr16:33970000-33970200	Bivalent Enhancer	Aorta	Aorta
28	chr16:33970600-33976000	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr16:33970600-33977000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:33970800-33971400	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr16:33970800-33976000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:33970800-33976000	ZNF genes & repeats	Left Ventricle	heart
33	chr16:33970800-33976200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr16:33970800-33976400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr16:33970800-33977000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr16:33970800-33977000	ZNF genes & repeats	Fetal Heart	heart
37	chr16:33970800-33977200	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr16:33970800-33978600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr16:33971000-33971200	Bivalent/Poised TSS	Lung	lung
40	chr16:33971000-33971400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr16:33971000-33971400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:33971000-33971400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr16:33971000-33971400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:33971000-33971400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr16:33971000-33971400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
46	chr16:33971000-33971400	ZNF genes & repeats	Colonic Mucosa	Colon
47	chr16:33971000-33971400	ZNF genes & repeats	Fetal Kidney	kidney
48	chr16:33971000-33971400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr16:33971000-33971400	Bivalent/Poised TSS	Right Atrium	heart
50	chr16:33971000-33971400	ZNF genes & repeats	A549	lung

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