Variant report

Variant	nsv977959
Chromosome Location	chr16:31947343-31962328
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	CTCF	chr16:31961292-31961354	Lung_OC	lung:	n/a	n/a
2	CTCF	chr16:31957180-31957330	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr16:31952992-31953093	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr16:31957160-31957310	HepG2	liver:	n/a	n/a
5	CTCF	chr16:31949220-31949279	Pancreas_OC	pancreas:	n/a	n/a
6	FOXA1	chr16:31949221-31949421	T-47D	breast:	n/a	n/a
7	FOXA1	chr16:31949105-31949447	HepG2	liver:	n/a	n/a
8	FOXA2	chr16:31949088-31949659	A549	lung:	n/a	n/a
9	FOXA2	chr16:31949208-31949374	HepG2	liver:	n/a	n/a
10	KAP1	chr16:31948076-31948301	U2OS	brain:	n/a	n/a
11	POLR2A	chr16:31948994-31949052	A549	lung:	n/a	n/a
12	POLR2A	chr16:31949226-31949380	MCF-7	breast:	n/a	n/a
13	POLR2A	chr16:31948965-31948974	A549	lung:	n/a	n/a
14	SETDB1	chr16:31947983-31948347	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31932903..31935520-chr16:31946813..31948460,2	K562	blood:

Variant related genes	Relation type
ENSG00000261289	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547024473	chr16:31956442-31956443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571707321	chr16:31956468-31956469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs142688789	chr16:31956497-31956498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190882608	chr16:31956516-31956517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77279875	chr16:31956617-31956618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs556051978	chr16:31956661-31956662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376416001	chr16:31956673-31956674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs537265877	chr16:31956782-31956783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555123288	chr16:31956783-31956784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557250582	chr16:31957080-31957081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs577869584	chr16:31957133-31957134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144220598	chr16:31957168-31957169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147791041	chr16:31957198-31957199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188461294	chr16:31957212-31957213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs191711432	chr16:31957215-31957216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184656382	chr16:31957223-31957224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373605116	chr16:31957297-31957298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187392291	chr16:31957298-31957299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs532584630	chr16:31957317-31957318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs551666934	chr16:31957363-31957364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs9941272	chr16:31957368-31957369	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369901859	chr16:31957374-31957375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs530579862	chr16:31957399-31957400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549153533	chr16:31957424-31957425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs567397033	chr16:31957444-31957445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs534393560	chr16:31957466-31957467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140203166	chr16:31957512-31957513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs150026057	chr16:31957533-31957534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs538271657	chr16:31957550-31957551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557321671	chr16:31957574-31957575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575900216	chr16:31957615-31957616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs542990010	chr16:31957618-31957619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs555140050	chr16:31957688-31957689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs573383875	chr16:31957697-31957698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs115652703	chr16:31957736-31957737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553388994	chr16:31957764-31957765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150501991	chr16:31957813-31957814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565393797	chr16:31957868-31957869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532521544	chr16:31957960-31957961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs373127546	chr16:31957965-31957966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544626439	chr16:31957993-31957994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs77653565	chr16:31958018-31958019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs145337082	chr16:31958021-31958022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149203502	chr16:31958061-31958062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs549037245	chr16:31958062-31958063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs567440527	chr16:31958084-31958085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs376023296	chr16:31958135-31958136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs34607688	chr16:31958137-31958138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74017550	chr16:31958152-31958153	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs145149706	chr16:31958186-31958187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Breast cancer	21509527	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
Bladder cancer	21909424	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
Sezary syndrome	18413736	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31956400-31956800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:31957000-31958800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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