Variant report

Variant	nsv977961
Chromosome Location	chr16:31994790-32044264
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	BATF	chr16:32007628-32007992	GM12878	blood:	n/a	n/a
2	BATF	chr16:32001426-32001621	GM12878	blood:	n/a	n/a
3	BCL11A	chr16:32001344-32001697	GM12878	blood:	n/a	n/a
4	BCL11A	chr16:32001120-32001954	GM12878	blood:	n/a	n/a
5	CBX3	chr16:32007689-32008189	K562	blood:	n/a	n/a
6	CTCF	chr16:32007740-32007890	HCFaa	heart:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
7	CTCF	chr16:32000512-32000879	A549	lung:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
8	CTCF	chr16:32000560-32000855	LNCaP	prostate:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
9	CTCF	chr16:32000503-32000826	GM10266	blood:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
10	CTCF	chr16:32018925-32018985	A549	lung:	n/a	n/a
11	CTCF	chr16:32007720-32007870	HEK293	kidney:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
12	CTCF	chr16:32007727-32007925	HepG2	liver:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
13	CTCF	chr16:32000581-32000836	GM13977	blood:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
14	CTCF	chr16:32007700-32007850	HL-60	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847
15	CTCF	chr16:32009304-32009412	GM13976	blood:	n/a	n/a
16	CTCF	chr16:32023191-32023253	GM13976	blood:	n/a	n/a
17	CTCF	chr16:32000587-32000757	HepG2	liver:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
18	CTCF	chr16:32000604-32000753	Hela-S3	cervix:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
19	CTCF	chr16:32000556-32000882	Spleen_OC	spleen:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
20	CTCF	chr16:32040902-32040984	GM13976	blood:	n/a	n/a
21	CTCF	chr16:32007554-32008096	K562	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
22	CTCF	chr16:32007568-32008155	A549	lung:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
23	CTCF	chr16:32000969-32001112	GM13976	blood:	n/a	n/a
24	CTCF	chr16:32007801-32007889	SK-N-SH_RA	brain:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
25	CTCF	chr16:32007740-32007890	HepG2	liver:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
26	CTCF	chr16:32007725-32007926	MCF-7	breast:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
27	CTCF	chr16:32007760-32007910	MCF-7	breast:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
28	CTCF	chr16:32000915-32001033	GM10266	blood:	n/a	n/a
29	CTCF	chr16:32000566-32000748	MCF-7	breast:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
30	CTCF	chr16:32007728-32007949	GM10248	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
31	CTCF	chr16:32007724-32007960	K562	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
32	CTCF	chr16:32007657-32007946	HepG2	liver:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
33	CTCF	chr16:32007740-32007890	HEK293	kidney:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
34	CTCF	chr16:32007705-32007934	GM10266	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
35	CTCF	chr16:32007741-32007925	ProgFib	skin:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
36	CTCF	chr16:31995607-31995671	GM13976	blood:	n/a	n/a
37	CTCF	chr16:32007780-32007930	HMEC	breast:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
38	CTCF	chr16:32007744-32007943	GM19240	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
39	CTCF	chr16:32008148-32008247	LNCaP	prostate:	n/a	n/a
40	CTCF	chr16:32007716-32007913	GM20000	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
41	CTCF	chr16:32000563-32000799	K562	blood:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
42	CTCF	chr16:32007740-32007890	WERI-Rb-1	eye:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
43	CTCF	chr16:32000596-32000747	H1-hESC	embryonic stem cell:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
44	CTCF	chr16:32007720-32007870	GM12865	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
45	CTCF	chr16:32001989-32002005	GM13976	blood:	n/a	n/a
46	CTCF	chr16:32007740-32007890	SK-N-SH_RA	brain:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
47	CTCF	chr16:32000541-32000758	Gliobla	brain:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
48	CTCF	chr16:32007744-32007936	NHEK	skin:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
49	CTCF	chr16:32007764-32007935	Lung_OC	lung:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
50	CTCF	chr16:32000585-32000748	GM19240	blood:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31995423-31995473	HCPEpiC	choroid plexus:	n/a
2	chr16:31995423-31995473	SAEC	small airway:	n/a
3	chr16:32037687-32037737	GM12891	blood:	n/a
4	chr16:32037687-32037737	BJ	skin:	n/a
5	chr16:31997067-31997117	SK-N-MC	brain:	n/a
6	chr16:31997067-31997117	HCPEpiC	choroid plexus:	n/a
7	chr16:31995423-31995473	Hepatocyte	liver:	n/a
8	chr16:31997067-31997117	GM06990	blood:	n/a
9	chr16:32037687-32037737	HL-60	blood:	n/a
10	chr16:32037687-32037737	SKMC	muscle:	n/a
11	chr16:32037687-32037737	NB4	blood:	n/a
12	chr16:31997067-31997117	HEK293	kidney:	embryo
13	chr16:32037687-32037737	MCF10A-Er-Src	breast:	n/a
14	chr16:31997067-31997117	GM12892	blood:	n/a
15	chr16:32037687-32037737	MCF-7	breast:	n/a
16	chr16:31995423-31995473	SK-N-SH	brain:	n/a
17	chr16:31995423-31995473	HCM	heart:	n/a
18	chr16:31995423-31995473	BE2_C	brain:	n/a
19	chr16:31995423-31995473	GM19239	blood:	n/a
20	chr16:32037687-32037737	SAEC	small airway:	n/a
21	chr16:31995423-31995473	NHDF-neo	bronchial:	n/a
22	chr16:31997067-31997117	BE2_C	brain:	n/a
23	chr16:31995423-31995473	AG09309	skin:	n/a
24	chr16:31997067-31997117	K562	blood:	n/a
25	chr16:31995423-31995473	HEEpiC	esophagus:	n/a
26	chr16:32037687-32037737	GM12892	blood:	n/a
27	chr16:31997067-31997117	HIPEpiC	eye:	n/a
28	chr16:31995423-31995473	SK-N-SH_RA	brain:	n/a
29	chr16:31995423-31995473	MCF10A-Er-Src	breast:	n/a
30	chr16:32037687-32037737	HAEpiC	amniotic membrane:	n/a
31	chr16:31997067-31997117	PANC-1	pancreas:	n/a
32	chr16:32037687-32037737	AG09309	skin:	n/a
33	chr16:32037687-32037737	ovcar-3	ovarian:	n/a
34	chr16:31997067-31997117	LNCaP	prostate:	n/a
35	chr16:32037687-32037737	HepG2	liver:	n/a
36	chr16:31997067-31997117	HNPCEpiC	eye:	n/a
37	chr16:31995423-31995473	NH-A	brain:	n/a
38	chr16:31995423-31995473	Hela-S3	cervix:	n/a
39	chr16:31995423-31995473	HMEC	breast:	n/a
40	chr16:31997067-31997117	HPAEpiC	pulmonary alveolar:	n/a
41	chr16:32037687-32037737	NHDF-neo	bronchial:	n/a
42	chr16:31995423-31995473	NHBE	bronchial:	n/a
43	chr16:31997067-31997117	HRCEpiC	kidney:	n/a
44	chr16:31995423-31995473	RPTEC	kidney:	n/a
45	chr16:32037687-32037737	HNPCEpiC	eye:	n/a
46	chr16:31997067-31997117	HEEpiC	esophagus:	n/a
47	chr16:31997067-31997117	HMEC	breast:	n/a
48	chr16:32037687-32037737	Jurkat	blood:	n/a
49	chr16:32037687-32037737	NH-A	brain:	n/a
50	chr16:31997067-31997117	NHDF-neo	bronchial:	n/a

Variant related genes	Relation type
ENSG00000260628	TF binding region
IGHV1OR16-1	TF binding region
ENSG00000260628	CpG island
IGHV1OR16-1	CpG island

Extended variants
information (count: 68 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62055240	chr16:32001373-32001374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62055241	chr16:32001381-32001382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62055242	chr16:32001397-32001398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs62055243	chr16:32001477-32001478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569160874	chr16:32001480-32001481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs536920247	chr16:32001491-32001492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs555255842	chr16:32001703-32001704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs567256751	chr16:32001705-32001706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs534485944	chr16:32001752-32001753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2456648	chr16:32001779-32001780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2659746	chr16:32001799-32001800	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2966274	chr16:32001824-32001825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552937590	chr16:32001842-32001843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577654022	chr16:32001893-32001894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs372613595	chr16:32001914-32001915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs190603504	chr16:32001922-32001923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs575329927	chr16:32001924-32001925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs11150658	chr16:32001932-32001933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs542680144	chr16:32001954-32001955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs58477186	chr16:32002015-32002016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs528842880	chr16:32002147-32002148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs374258420	chr16:32002184-32002185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181072153	chr16:32002475-32002476	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs530020395	chr16:32002478-32002479	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs144361633	chr16:32002480-32002481	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs567218206	chr16:32002481-32002482	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs534638590	chr16:32002488-32002489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546730675	chr16:32002490-32002491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146120985	chr16:32002501-32002502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538696018	chr16:32002502-32002503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556767495	chr16:32002524-32002525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371222915	chr16:32002565-32002566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184380906	chr16:32002585-32002586	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs140154921	chr16:32002612-32002613	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs554647450	chr16:32002620-32002621	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs573537962	chr16:32002621-32002622	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs540573636	chr16:32002638-32002639	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565448136	chr16:32002653-32002654	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs2939835	chr16:32002671-32002672	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs562098476	chr16:32002683-32002684	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs189738904	chr16:32002806-32002807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143880642	chr16:32002807-32002808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs62055244	chr16:32002821-32002822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs62055245	chr16:32002836-32002837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs555244006	chr16:32005374-32005375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533622225	chr16:32005379-32005380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs570427968	chr16:32005455-32005456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs538125611	chr16:32005478-32005479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs556427319	chr16:32005499-32005500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs568444564	chr16:32005511-32005512	Inactive region	TF binding region	1 gene(s)	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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:32002400-32002800	Enhancers	HepG2	liver

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