Variant report

Variant	nsv974736
Chromosome Location	chr16:34316534-34320219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:34318756-34318791	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000260809	TF binding region
ENSG00000261053	TF binding region

Extended variants
information (count: 175 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370533352	chr16:34316571-34316572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79847722	chr16:34316574-34316575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs546473173	chr16:34316610-34316611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs565125783	chr16:34316613-34316614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532214201	chr16:34316614-34316615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs551803330	chr16:34316640-34316641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539029504	chr16:34316742-34316743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569834421	chr16:34316820-34316821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs554246438	chr16:34316822-34316823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs537036186	chr16:34316899-34316900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548997231	chr16:34316936-34316937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567619104	chr16:34316964-34316965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573130348	chr16:34316996-34316997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553402047	chr16:34317027-34317028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190397617	chr16:34317028-34317029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538883153	chr16:34317097-34317098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs181710344	chr16:34317103-34317104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs575445509	chr16:34317136-34317137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78408166	chr16:34317164-34317165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560911634	chr16:34317193-34317194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185699877	chr16:34317194-34317195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573163197	chr16:34317246-34317247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189168208	chr16:34317256-34317257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs73549382	chr16:34317258-34317259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs374429215	chr16:34317275-34317276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs768299	chr16:34317277-34317278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113225583	chr16:34317346-34317347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543150892	chr16:34317367-34317368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs180889395	chr16:34317371-34317372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs563422016	chr16:34317409-34317410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs368895774	chr16:34317413-34317414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs72806997	chr16:34317437-34317438	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184960777	chr16:34317438-34317439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs564378665	chr16:34317484-34317485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs370952528	chr16:34317572-34317573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs71984080	chr16:34317573-34317574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs3052260	chr16:34317606-34317607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs567283390	chr16:34317630-34317631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528481569	chr16:34317688-34317689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547243811	chr16:34317708-34317709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571862812	chr16:34317711-34317712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539206714	chr16:34317712-34317713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs573742366	chr16:34317727-34317728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544423587	chr16:34317739-34317740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs189620776	chr16:34317748-34317749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs138480018	chr16:34317753-34317754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536392405	chr16:34317782-34317783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs181314064	chr16:34317825-34317826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs141871138	chr16:34317839-34317840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs539867224	chr16:34317840-34317841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
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
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34315800-34316600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr16:34315800-34320600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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