Variant report

Variant	nsv960352
Chromosome Location	chr16:34213615-34254796
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	BHLHE40	chr16:34234710-34234716	K562	blood:	n/a	n/a
2	CEBPB	chr16:34248339-34248461	IMR90	lung:	n/a	chr16:34248391-34248402
3	CEBPB	chr16:34247011-34247304	IMR90	lung:	n/a	chr16:34247209-34247220 chr16:34247169-34247180
4	CEBPB	chr16:34215170-34215503	HepG2	liver:	n/a	chr16:34215341-34215352
5	CEBPB	chr16:34247010-34247306	A549	lung:	n/a	chr16:34247209-34247220 chr16:34247169-34247180
6	CEBPB	chr16:34215223-34215501	K562	blood:	n/a	chr16:34215341-34215352
7	CEBPB	chr16:34247089-34247299	K562	blood:	n/a	chr16:34247209-34247220 chr16:34247169-34247180
8	CEBPB	chr16:34215286-34215454	H1-hESC	embryonic stem cell:	n/a	chr16:34215341-34215352
9	CEBPB	chr16:34247069-34247351	HepG2	liver:	n/a	chr16:34247209-34247220 chr16:34247169-34247180
10	CEBPB	chr16:34223559-34224035	HepG2	liver:	n/a	chr16:34223701-34223712
11	CEBPB	chr16:34248352-34248464	HepG2	liver:	n/a	chr16:34248391-34248402
12	CEBPB	chr16:34238371-34238530	K562	blood:	n/a	chr16:34238476-34238487
13	CEBPB	chr16:34223604-34224037	IMR90	lung:	n/a	chr16:34223701-34223712
14	CEBPB	chr16:34215176-34215517	A549	lung:	n/a	chr16:34215341-34215352
15	CEBPB	chr16:34238414-34238615	A549	lung:	n/a	chr16:34238476-34238487
16	CEBPB	chr16:34223668-34223978	A549	lung:	n/a	chr16:34223701-34223712
17	CEBPB	chr16:34238344-34238603	IMR90	lung:	n/a	chr16:34238476-34238487
18	CEBPB	chr16:34238359-34238633	HepG2	liver:	n/a	chr16:34238476-34238487
19	CEBPB	chr16:34215175-34215510	IMR90	lung:	n/a	chr16:34215341-34215352
20	CTCF	chr16:34217623-34217688	GM13977	blood:	n/a	n/a
21	CTCF	chr16:34244260-34244410	AG09309	skin:	n/a	n/a
22	CTCF	chr16:34213600-34213750	GM12866	blood:	n/a	n/a
23	CTCF	chr16:34238780-34238930	GM12867	blood:	n/a	n/a
24	CTCF	chr16:34238120-34238270	HRE	kidney:	n/a	n/a
25	FOXA2	chr16:34229585-34230143	A549	lung:	n/a	n/a
26	FOXA2	chr16:34233083-34233687	A549	lung:	n/a	n/a
27	GATA2	chr16:34227351-34227751	K562	blood:	n/a	n/a
28	JUN	chr16:34215317-34215459	HepG2	liver:	n/a	chr16:34215338-34215351
29	JUN	chr16:34254449-34254512	K562	blood:	n/a	n/a
30	JUND	chr16:34223941-34223943	HepG2	liver:	n/a	n/a
31	MAFF	chr16:34234354-34234527	K562	blood:	n/a	n/a
32	MAFK	chr16:34234371-34234416	K562	blood:	n/a	n/a
33	MAFK	chr16:34246386-34246400	HepG2	liver:	n/a	n/a
34	MAX	chr16:34234643-34234762	NB4	blood:	n/a	chr16:34234726-34234735 chr16:34234725-34234736 chr16:34234727-34234736 chr16:34234724-34234737 chr16:34234728-34234735
35	MAZ	chr16:34234297-34234428	K562	blood:	n/a	n/a
36	NRF1	chr16:34214137-34214553	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr16:34219750-34219831	A549	lung:	n/a	n/a
38	POLR2A	chr16:34219854-34219930	A549	lung:	n/a	n/a
39	POLR2A	chr16:34219061-34219082	A549	lung:	n/a	n/a
40	STAT3	chr16:34252456-34252619	MCF10A-Er-Src	breast:	n/a	n/a
41	ZNF384	chr16:34234213-34234474	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34213700-34213750	AG04449	skin:	fetal
2	chr16:34252958-34253008	HRPEpiC	eye:	n/a
3	chr16:34252958-34253008	HCF	heart:	n/a
4	chr16:34214362-34214412	HIPEpiC	eye:	n/a
5	chr16:34252958-34253008	PrEC	prostate:	n/a
6	chr16:34214362-34214412	HRCEpiC	kidney:	n/a
7	chr16:34213955-34214005	HCF	heart:	n/a
8	chr16:34214362-34214412	K562	blood:	n/a
9	chr16:34252958-34253008	AG10803	skin:	n/a
10	chr16:34252958-34253008	PFSK-1	brain:	n/a
11	chr16:34214362-34214412	ProgFib	skin:	n/a
12	chr16:34213700-34213750	NT2-D1	testis:	n/a
13	chr16:34213700-34213750	SK-N-MC	brain:	n/a
14	chr16:34213700-34213750	HRPEpiC	eye:	n/a
15	chr16:34213955-34214005	MCF-7	breast:	n/a
16	chr16:34213700-34213750	AoSMC	blood vessel:	n/a
17	chr16:34213955-34214005	ovcar-3	ovarian:	n/a
18	chr16:34214362-34214412	HNPCEpiC	eye:	n/a
19	chr16:34214362-34214412	HEK293	kidney:	embryo
20	chr16:34213700-34213750	HEK293	kidney:	embryo
21	chr16:34213700-34213750	GM12878	blood:	n/a
22	chr16:34252958-34253008	BJ	skin:	n/a
23	chr16:34213700-34213750	PFSK-1	brain:	n/a
24	chr16:34213955-34214005	HAEpiC	amniotic membrane:	n/a
25	chr16:34252958-34253008	AG04449	skin:	fetal
26	chr16:34213700-34213750	HCF	heart:	n/a
27	chr16:34213955-34214005	HUVEC	blood vessel:	n/a
28	chr16:34214362-34214412	HRPEpiC	eye:	n/a
29	chr16:34252958-34253008	AG09309	skin:	n/a
30	chr16:34214362-34214412	AG09319	gingival:	n/a
31	chr16:34214362-34214412	AG04450	lung:	fetal
32	chr16:34252958-34253008	CMK	blood:	n/a
33	chr16:34214362-34214412	Jurkat	blood:	n/a
34	chr16:34213955-34214005	HEK293	kidney:	embryo
35	chr16:34214362-34214412	H1-hESC	embryonic stem cell:	embryo
36	chr16:34252958-34253008	PANC-1	pancreas:	n/a
37	chr16:34214362-34214412	IMR90	lung:	fetal
38	chr16:34252958-34253008	SK-N-MC	brain:	n/a
39	chr16:34252958-34253008	NT2-D1	testis:	n/a
40	chr16:34252958-34253008	NH-A	brain:	n/a
41	chr16:34213700-34213750	SAEC	small airway:	n/a
42	chr16:34252958-34253008	AG04450	lung:	fetal
43	chr16:34214362-34214412	GM19239	blood:	n/a
44	chr16:34213955-34214005	PFSK-1	brain:	n/a
45	chr16:34213955-34214005	T-47D	breast:	n/a
46	chr16:34252958-34253008	MCF-7	breast:	n/a
47	chr16:34213955-34214005	NT2-D1	testis:	n/a
48	chr16:34252958-34253008	U87	brain:	n/a
49	chr16:34213700-34213750	ovcar-3	ovarian:	n/a
50	chr16:34213700-34213750	SK-N-SH_RA	brain:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LINC00273-2	chr16:34214112-34214215	ENSG00000260854.1
2	lnc-CTD-2144E22.5.1-10	chr16:34232106-34232469	NONHSAT142142
3	lnc-CTD-2144E22.5.1-11	chr16:34213746-34213986	NONHSAT142141

Variant related genes	Relation type
ENSG00000261331	TF binding region
ENSG00000260854	TF binding region
ENSG00000256579	TF binding region
ENSG00000179755	TF binding region
ENSG00000262885	TF binding region
ENSG00000261331	CpG island
ENSG00000260854	CpG island
ENSG00000256579	CpG island
ENSG00000179755	CpG island
ENSG00000262885	CpG island

Extended variants
information (count: 455 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547867436	chr16:34213662-34213663	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs187479152	chr16:34213681-34213682	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs533798596	chr16:34213691-34213692	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552456676	chr16:34213707-34213708	ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs192951872	chr16:34213739-34213740	ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs375953165	chr16:34213740-34213741	ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs555968888	chr16:34213767-34213768	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs144757451	chr16:34213809-34213810	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs536391165	chr16:34213865-34213866	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs528782585	chr16:34213877-34213878	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs573197430	chr16:34213892-34213893	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs549901332	chr16:34213900-34213901	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs540534996	chr16:34213911-34213912	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs565591978	chr16:34213945-34213946	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs78590450	chr16:34213962-34213963	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs386790423	chr16:34213981-34213982	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs544804109	chr16:34214037-34214038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs563115336	chr16:34214040-34214041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540479015	chr16:34214080-34214081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562153329	chr16:34214084-34214085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529809506	chr16:34214088-34214089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs548269177	chr16:34214092-34214093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559854720	chr16:34214111-34214112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565307444	chr16:34214118-34214119	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527298103	chr16:34214139-34214140	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs368578887	chr16:34214192-34214193	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs552159217	chr16:34214194-34214195	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs372230912	chr16:34214209-34214210	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs570391824	chr16:34214212-34214213	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs529481484	chr16:34214231-34214232	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs184081426	chr16:34214238-34214239	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567963956	chr16:34214245-34214246	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs533247179	chr16:34214286-34214287	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs188471967	chr16:34214316-34214317	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551716684	chr16:34214328-34214329	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs555060256	chr16:34214368-34214369	ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs114744180	chr16:34214390-34214391	ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs35207327	chr16:34214424-34214425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs138697009	chr16:34214448-34214449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs550822329	chr16:34214470-34214471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs577603094	chr16:34214487-34214488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544967987	chr16:34214488-34214489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs563023924	chr16:34214489-34214490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559523179	chr16:34214491-34214492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs541528010	chr16:34214526-34214527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs560216339	chr16:34214532-34214533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs533673998	chr16:34214551-34214552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs572099913	chr16:34215242-34215243	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs207475853	chr16:34215270-34215271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545629102	chr16:34215277-34215278	Inactive region	TF binding region	1 gene(s)	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34212800-34214400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:34219400-34219800	Active TSS	Fetal Heart	heart
3	chr16:34219800-34220000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:34219800-34220000	ZNF genes & repeats	Pancreas	Pancrea
5	chr16:34225200-34225600	Active TSS	Fetal Heart	heart
6	chr16:34234400-34237600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:34240600-34241000	Active TSS	Fetal Heart	heart
8	chr16:34248600-34251400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links