Variant report

Variant	nsv984235
Chromosome Location	chr16:31793442-31804349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:31794880-31795030	HepG2	liver:	n/a	n/a
2	CTCF	chr16:31794840-31794990	RPTEC	kidney:	n/a	n/a
3	CTCF	chr16:31800818-31800901	Lung_OC	lung:	n/a	n/a
4	CTCF	chr16:31794860-31795010	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr16:31794895-31794999	K562	blood:	n/a	n/a
6	CTCF	chr16:31794895-31794958	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr16:31794860-31795010	HEK293	kidney:	n/a	n/a
8	CTCF	chr16:31794860-31795010	K562	blood:	n/a	n/a
9	JUN	chr16:31797546-31797584	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr16:31804260-31804425	HepG2	liver:	n/a	chr16:31804313-31804324 chr16:31804314-31804324 chr16:31804315-31804324 chr16:31804314-31804323
11	MAFK	chr16:31799906-31800028	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:31802751-31802808	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:31802815-31803000	ProgFib	skin:	n/a	n/a
14	POLR2A	chr16:31793353-31793539	K562	blood:	n/a	n/a
15	POLR2A	chr16:31793983-31794080	K562	blood:	n/a	n/a
16	POLR2A	chr16:31802760-31802876	Gliobla	brain:	n/a	n/a
17	POLR2A	chr16:31798668-31799924	K562	blood:	n/a	n/a
18	POLR2A	chr16:31802824-31802895	GM12878	blood:	n/a	n/a
19	POLR2A	chr16:31801137-31801201	GM12878	blood:	n/a	n/a
20	RAD21	chr16:31794870-31795054	H1-hESC	embryonic stem cell:	n/a	n/a
21	STAT3	chr16:31797265-31797431	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF720-3	chr16:31803951-31804051	NONHSAT141963
2	lnc-ZNF267-1	chr16:31799523-31800928	ENSG00000261922.1
3	lnc-ZNF267-1	chr16:31799523-31801961	ENSG00000259810.1
4	lnc-ZNF267-1	chr16:31799523-31802314	ENSG00000259810.2
5	lnc-ZNF720-3	chr16:31803951-31804051	NONHSAT141960

No data

Variant related genes	Relation type
ENSG00000259810	TF binding region

Extended variants
information (count: 318 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146594296	chr16:31793503-31793504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs531160779	chr16:31793514-31793515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564195772	chr16:31794289-31794290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs531353356	chr16:31794329-31794330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142427334	chr16:31794334-31794335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs151322867	chr16:31794383-31794384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs55695997	chr16:31794386-31794387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs140621305	chr16:31794404-31794405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548048567	chr16:31794405-31794406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs566284929	chr16:31794421-31794422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533520250	chr16:31794425-31794426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549761384	chr16:31794455-31794456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539654305	chr16:31794466-31794467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs570222236	chr16:31794497-31794498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147029498	chr16:31794507-31794508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555453948	chr16:31794569-31794570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567467722	chr16:31794588-31794589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534784674	chr16:31794714-31794715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187859097	chr16:31794726-31794727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538740379	chr16:31794751-31794752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192789153	chr16:31794835-31794836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs371651545	chr16:31794846-31794847	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs558065838	chr16:31794853-31794854	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370619054	chr16:31794867-31794868	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs183220661	chr16:31794888-31794889	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs554202790	chr16:31794889-31794890	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs375028024	chr16:31794940-31794941	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs188499718	chr16:31794967-31794968	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs193059214	chr16:31794980-31794981	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs55917143	chr16:31795025-31795026	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113434706	chr16:31795044-31795045	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs533591340	chr16:31795058-31795059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs142390847	chr16:31795060-31795061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189135310	chr16:31795073-31795074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs192472821	chr16:31795108-31795109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs183757572	chr16:31795109-31795110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141176409	chr16:31795159-31795160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78718712	chr16:31795167-31795168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369467546	chr16:31795168-31795169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs567333109	chr16:31795169-31795170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs534670321	chr16:31795182-31795183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189387497	chr16:31795191-31795192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574102967	chr16:31796020-31796021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557684308	chr16:31796030-31796031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573969191	chr16:31796038-31796039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534632483	chr16:31796057-31796058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553001556	chr16:31796073-31796074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181468767	chr16:31796074-31796075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114045667	chr16:31796107-31796108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563351309	chr16:31796109-31796110	Enhancers	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
Lung cancer	18438408	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31790200-31793600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr16:31794200-31795200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr16:31794600-31795200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr16:31796000-31796200	Enhancers	HSMMtube	muscle
5	chr16:31796200-31805200	Weak transcription	HSMMtube	muscle
6	chr16:31798600-31803800	Weak transcription	Psoas Muscle	Psoas
7	chr16:31801600-31801800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
8	chr16:31801800-31813000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:31803800-31804600	Strong transcription	Psoas Muscle	Psoas

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