Variant report

Variant	esv3390636
Chromosome Location	chr16:34009349-34015247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 986 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:986 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78657174	chr16:34009349-34009350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs76660355	chr16:34009350-34009351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs77876705	chr16:34009358-34009359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200271779	chr16:34009363-34009364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs74447215	chr16:34009365-34009366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113041676	chr16:34009375-34009376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs558524790	chr16:34009379-34009380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs80328713	chr16:34009385-34009386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148968427	chr16:34009395-34009396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs75733164	chr16:34009399-34009400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113158570	chr16:34009400-34009401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs75099843	chr16:34009401-34009402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs150946183	chr16:34009404-34009405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs78456816	chr16:34009406-34009407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs78486426	chr16:34009414-34009415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544142003	chr16:34009416-34009417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs562340982	chr16:34009417-34009418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145925440	chr16:34009425-34009426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs114479548	chr16:34009439-34009440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34064506	chr16:34009440-34009441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113976268	chr16:34009441-34009442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs139858474	chr16:34009447-34009448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs542698961	chr16:34009449-34009450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs80027549	chr16:34009450-34009451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs140470606	chr16:34009454-34009455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs79000416	chr16:34009455-34009456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561452903	chr16:34009459-34009460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528449635	chr16:34009460-34009461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs138830597	chr16:34009464-34009465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557587479	chr16:34009465-34009466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs150514487	chr16:34009469-34009470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs145880779	chr16:34009478-34009479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs144727735	chr16:34009479-34009480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73547269	chr16:34009485-34009486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138017596	chr16:34009490-34009491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs77344428	chr16:34009493-34009494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141521610	chr16:34009499-34009500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs76143731	chr16:34009501-34009502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76453071	chr16:34009502-34009503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150062183	chr16:34009503-34009504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs148959805	chr16:34009505-34009506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113293862	chr16:34009514-34009515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs371773746	chr16:34009515-34009516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149489559	chr16:34009517-34009518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs79803335	chr16:34009522-34009523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs371530189	chr16:34009525-34009526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77605980	chr16:34009529-34009530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs77169074	chr16:34009530-34009531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76835307	chr16:34009534-34009535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs74322148	chr16:34009542-34009543	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34004000-34010400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr16:34004000-34016600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:34004000-34016800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:34004200-34016800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr16:34009600-34009800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:34010400-34011600	Weak transcription	Aorta	Aorta
7	chr16:34011600-34012400	Active TSS	Aorta	Aorta
8	chr16:34012200-34013000	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr16:34012600-34014600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr16:34014200-34016600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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