Variant report

Variant	esv3400127
Chromosome Location	chr16:34006789-34015247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1359 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1359 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113163200	chr16:34006794-34006795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62059292	chr16:34006798-34006799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201155201	chr16:34006806-34006807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546998810	chr16:34006814-34006815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377534535	chr16:34006815-34006816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149749792	chr16:34006846-34006847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111736495	chr16:34006847-34006848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141989330	chr16:34006851-34006852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148667063	chr16:34006852-34006853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147557160	chr16:34006853-34006854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370563064	chr16:34006859-34006860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117928804	chr16:34006864-34006865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117417426	chr16:34006865-34006866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139797732	chr16:34006871-34006872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151179286	chr16:34006876-34006877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs118156710	chr16:34006878-34006879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143233256	chr16:34006879-34006880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139615419	chr16:34006890-34006891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199659589	chr16:34006894-34006895	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557793466	chr16:34006931-34006932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75981833	chr16:34006950-34006951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569818661	chr16:34006972-34006973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144049842	chr16:34006976-34006977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377594031	chr16:34006984-34006985	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537260597	chr16:34006994-34006995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199676476	chr16:34007008-34007009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556667138	chr16:34007012-34007013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141090998	chr16:34007026-34007027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574989576	chr16:34007040-34007041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199763799	chr16:34007050-34007051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113453348	chr16:34007059-34007060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200465177	chr16:34007105-34007106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554201487	chr16:34007120-34007121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8045796	chr16:34007121-34007122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546457051	chr16:34007131-34007132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370792049	chr16:34007140-34007141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74557311	chr16:34007150-34007151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576550270	chr16:34007156-34007157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190888756	chr16:34007164-34007165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182222576	chr16:34007182-34007183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561402590	chr16:34007184-34007185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372521854	chr16:34007193-34007194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199508462	chr16:34007199-34007200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376988640	chr16:34007200-34007201	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570318426	chr16:34007203-34007204	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80278411	chr16:34007211-34007212	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201781968	chr16:34007230-34007231	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199938318	chr16:34007238-34007239	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547136819	chr16:34007267-34007268	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559278718	chr16:34007268-34007269	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34004000-34008000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr16:34004000-34010400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr16:34004000-34016600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr16:34004000-34016800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:34004200-34016800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr16:34005000-34007200	Weak transcription	Stomach Mucosa	stomach
7	chr16:34005000-34007800	ZNF genes & repeats	HepG2	liver
8	chr16:34007000-34007400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:34007000-34007400	ZNF genes & repeats	HUVEC	blood vessel
10	chr16:34007000-34007800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr16:34007200-34007400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:34007200-34007400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:34007200-34007400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:34007200-34007400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:34007200-34007400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:34007200-34007400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
17	chr16:34007200-34007400	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr16:34007200-34007400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
19	chr16:34007200-34007400	ZNF genes & repeats	Small Intestine	intestine
20	chr16:34007200-34007400	ZNF genes & repeats	Stomach Mucosa	stomach
21	chr16:34007200-34007400	Enhancers	Thymus	Thymus
22	chr16:34007200-34007600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:34007200-34007600	ZNF genes & repeats	Colonic Mucosa	Colon
24	chr16:34007200-34007600	ZNF genes & repeats	Fetal Brain Male	brain
25	chr16:34007200-34007600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
26	chr16:34007600-34009000	Weak transcription	Aorta	Aorta
27	chr16:34009600-34009800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:34010400-34011600	Weak transcription	Aorta	Aorta
29	chr16:34011600-34012400	Active TSS	Aorta	Aorta
30	chr16:34012200-34013000	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr16:34012600-34014600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr16:34014200-34016600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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