Variant report

Variant	nsv974801
Chromosome Location	chr16:34267861-34292879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143103646	chr16:34268257-34268258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs184577945	chr16:34268271-34268272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562624397	chr16:34268274-34268275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs376366076	chr16:34268275-34268276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564231366	chr16:34268288-34268289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs59344183	chr16:34268320-34268321	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs58636981	chr16:34268325-34268326	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560190518	chr16:34268329-34268330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs57537885	chr16:34268344-34268345	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374379188	chr16:34268372-34268373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs377683734	chr16:34268374-34268375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs370947013	chr16:34268375-34268376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527424282	chr16:34268377-34268378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374159528	chr16:34268378-34268379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs530090341	chr16:34268395-34268396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142798713	chr16:34268399-34268400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62059477	chr16:34268698-34268699	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114015791	chr16:34268719-34268720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs188657205	chr16:34268721-34268722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557813712	chr16:34268749-34268750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs571712641	chr16:34268778-34268779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs150921966	chr16:34268791-34268792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs578150048	chr16:34285000-34285001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189955991	chr16:34285004-34285005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575919788	chr16:34285043-34285044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs78858036	chr16:34285044-34285045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs546075051	chr16:34285055-34285056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530670730	chr16:34285111-34285112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs549014953	chr16:34285121-34285122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs561125621	chr16:34285132-34285133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs115779898	chr16:34285138-34285139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs545639923	chr16:34285170-34285171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs367810444	chr16:34285173-34285174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs566144614	chr16:34285180-34285181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564714848	chr16:34285198-34285199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs77603810	chr16:34285213-34285214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183503503	chr16:34285251-34285252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs146714457	chr16:34285275-34285276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs557654512	chr16:34285286-34285287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140345228	chr16:34285291-34285292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs555831627	chr16:34285314-34285315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs145494861	chr16:34285364-34285365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534938581	chr16:34285443-34285444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs137933363	chr16:34285495-34285496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs576019350	chr16:34285518-34285519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577291247	chr16:34285552-34285553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs544706530	chr16:34285598-34285599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149490497	chr16:34285606-34285607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574934088	chr16:34285612-34285613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542887386	chr16:34285648-34285649	Weak transcription	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
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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34268200-34268400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr16:34268600-34268800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:34285000-34285600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:34285600-34286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:34286200-34287200	Enhancers	Colon Smooth Muscle	Colon
6	chr16:34286400-34286800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:34287200-34288000	Weak transcription	Colon Smooth Muscle	Colon
8	chr16:34288200-34288400	Enhancers	Colon Smooth Muscle	Colon

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