Variant report

Variant	nsv977960
Chromosome Location	chr16:31962966-31994790
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	chr16:31967621-31968011	GM12878	blood:	n/a	n/a
2	BCL11A	chr16:31967573-31967758	GM12878	blood:	n/a	n/a
3	BHLHE40	chr16:31985679-31985857	HepG2	liver:	n/a	chr16:31985733-31985749
4	CBX3	chr16:31967501-31967949	K562	blood:	n/a	n/a
5	CBX3	chr16:31967467-31967998	K562	blood:	n/a	n/a
6	CEBPB	chr16:31992189-31992618	K562	blood:	n/a	chr16:31992407-31992418
7	CEBPB	chr16:31992228-31992528	HepG2	liver:	n/a	chr16:31992407-31992418
8	CEBPB	chr16:31992231-31992592	K562	blood:	n/a	chr16:31992407-31992418
9	CEBPB	chr16:31992336-31992524	K562	blood:	n/a	chr16:31992407-31992418
10	CTCF	chr16:31985560-31985710	BJ	skin:	n/a	n/a
11	CTCF	chr16:31985619-31985873	LNCaP	prostate:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
12	CTCF	chr16:31985780-31985930	MCF-7	breast:	n/a	n/a
13	CTCF	chr16:31985625-31985892	A549	lung:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
14	CTCF	chr16:31990558-31990591	Lung_OC	lung:	n/a	n/a
15	CTCF	chr16:31967920-31968070	GM12874	blood:	n/a	n/a
16	CTCF	chr16:31967640-31967790	GM12868	blood:	n/a	n/a
17	CTCF	chr16:31967620-31967770	K562	blood:	n/a	n/a
18	CTCF	chr16:31985560-31985710	HVMF	connective:	n/a	n/a
19	CTCF	chr16:31967640-31967790	GM12869	blood:	n/a	n/a
20	CTCF	chr16:31967659-31967722	GM12892	blood:	n/a	n/a
21	CTCF	chr16:31985675-31985830	Hela-S3	cervix:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
22	CTCF	chr16:31967526-31967972	LNCaP	prostate:	n/a	n/a
23	CTCF	chr16:31967673-31967754	GM19239	blood:	n/a	n/a
24	CTCF	chr16:31985694-31985829	GM19238	blood:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
25	CTCF	chr16:31967960-31968110	GM12873	blood:	n/a	n/a
26	CTCF	chr16:31985688-31985884	K562	blood:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
27	CTCF	chr16:31988902-31989010	GM10266	blood:	n/a	n/a
28	CTCF	chr16:31967600-31967750	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr16:31967620-31967770	GM12864	blood:	n/a	n/a
30	CTCF	chr16:31985660-31985810	GM12866	blood:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
31	CTCF	chr16:31967620-31967770	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr16:31985668-31985820	GM13977	blood:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
33	CTCF	chr16:31985660-31985810	Caco-2	colon:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
34	CTCF	chr16:31985560-31985710	GM12867	blood:	n/a	n/a
35	CTCF	chr16:31985660-31985810	GM12864	blood:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
36	CTCF	chr16:31985640-31985790	HMF	breast:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
37	CTCF	chr16:31967591-31967934	GM20000	blood:	n/a	n/a
38	CTCF	chr16:31967648-31967830	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr16:31967642-31967941	GM12878	blood:	n/a	n/a
40	CTCF	chr16:31967573-31967949	GM10266	blood:	n/a	n/a
41	CTCF	chr16:31986766-31986832	Medullo	brain:	n/a	n/a
42	CTCF	chr16:31967570-31967950	GM12878	blood:	n/a	n/a
43	CTCF	chr16:31973981-31974029	LNCaP	prostate:	n/a	chr16:31973994-31974010 chr16:31973988-31974009
44	CTCF	chr16:31967327-31967943	GM10248	blood:	n/a	chr16:31967478-31967487
45	CTCF	chr16:31985662-31985834	MCF-7	breast:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
46	CTCF	chr16:31985701-31985821	HUVEC	blood vessel:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763
47	CTCF	chr16:31985560-31985710	GM06990	blood:	n/a	n/a
48	CTCF	chr16:31967680-31967830	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr16:31967581-31968044	A549	lung:	n/a	n/a
50	CTCF	chr16:31985696-31985828	NHEK	skin:	n/a	chr16:31985751-31985764 chr16:31985749-31985765 chr16:31985748-31985766 chr16:31985753-31985763

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31990956-31991006	CMK	blood:	n/a
2	chr16:31993479-31993529	HRCEpiC	kidney:	n/a
3	chr16:31993231-31993281	BE2_C	brain:	n/a
4	chr16:31993479-31993529	HL-60	blood:	n/a
5	chr16:31990956-31991006	IMR90	lung:	fetal
6	chr16:31990956-31991006	HRCEpiC	kidney:	n/a
7	chr16:31993479-31993529	SK-N-SH_RA	brain:	n/a
8	chr16:31990956-31991006	HCF	heart:	n/a
9	chr16:31993479-31993529	PFSK-1	brain:	n/a
10	chr16:31990956-31991006	HL-60	blood:	n/a
11	chr16:31993479-31993529	AG10803	skin:	n/a
12	chr16:31990956-31991006	T-47D	breast:	n/a
13	chr16:31993479-31993529	GM06990	blood:	n/a
14	chr16:31993479-31993529	IMR90	lung:	fetal
15	chr16:31993231-31993281	SAEC	small airway:	n/a
16	chr16:31990956-31991006	HCPEpiC	choroid plexus:	n/a
17	chr16:31993231-31993281	GM12891	blood:	n/a
18	chr16:31993231-31993281	HCM	heart:	n/a
19	chr16:31993479-31993529	ProgFib	skin:	n/a
20	chr16:31993231-31993281	ECC-1	luminal epithelium:	n/a
21	chr16:31993479-31993529	T-47D	breast:	n/a
22	chr16:31993479-31993529	ovcar-3	ovarian:	n/a
23	chr16:31993479-31993529	GM12892	blood:	n/a
24	chr16:31990956-31991006	SK-N-MC	brain:	n/a
25	chr16:31990956-31991006	ovcar-3	ovarian:	n/a
26	chr16:31993479-31993529	GM12891	blood:	n/a
27	chr16:31993479-31993529	AoSMC	blood vessel:	n/a
28	chr16:31993479-31993529	AG09319	gingival:	n/a
29	chr16:31993231-31993281	MCF10A-Er-Src	breast:	n/a
30	chr16:31993479-31993529	HepG2	liver:	n/a
31	chr16:31993479-31993529	K562	blood:	n/a
32	chr16:31993231-31993281	HPAEpiC	pulmonary alveolar:	n/a
33	chr16:31990956-31991006	AG09319	gingival:	n/a
34	chr16:31993231-31993281	NHDF-neo	bronchial:	n/a
35	chr16:31990956-31991006	AG09309	skin:	n/a
36	chr16:31993231-31993281	NT2-D1	testis:	n/a
37	chr16:31993231-31993281	AG04450	lung:	fetal
38	chr16:31993479-31993529	A549	lung:	n/a
39	chr16:31993231-31993281	HCF	heart:	n/a
40	chr16:31990956-31991006	HEK293	kidney:	embryo
41	chr16:31990956-31991006	NHDF-neo	bronchial:	n/a
42	chr16:31990956-31991006	BJ	skin:	n/a
43	chr16:31990956-31991006	NH-A	brain:	n/a
44	chr16:31993231-31993281	PrEC	prostate:	n/a
45	chr16:31993231-31993281	PANC-1	pancreas:	n/a
46	chr16:31990956-31991006	HNPCEpiC	eye:	n/a
47	chr16:31993231-31993281	GM19239	blood:	n/a
48	chr16:31993479-31993529	SK-N-SH	brain:	n/a
49	chr16:31993479-31993529	CMK	blood:	n/a
50	chr16:31993231-31993281	BJ	skin:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF267-4	chr16:31972893-31972899	NONHSAT141979
2	lnc-ZNF267-3	chr16:31963481-31963794	NONHSAT141978
3	lnc-ZNF267-4	chr16:31975124-31975400	NONHSAT141983
4	lnc-ZNF267-4	chr16:31973257-31973743	NONHSAT141979

Variant related genes	Relation type
ENSG00000261289	TF binding region
ENSG00000260628	TF binding region
ENSG00000197476	TF binding region
ENSG00000260218	TF binding region
ENSG00000261289	CpG island
ENSG00000260628	CpG island
ENSG00000197476	CpG island
ENSG00000260218	CpG island

Extended variants
information (count: 218 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55968411	chr16:31963043-31963044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531911677	chr16:31963109-31963110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200604839	chr16:31963111-31963112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568546966	chr16:31963202-31963203	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538591538	chr16:31963206-31963207	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547460093	chr16:31963286-31963287	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565839973	chr16:31963322-31963323	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539408095	chr16:31963343-31963344	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs115330180	chr16:31963374-31963375	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370389197	chr16:31963433-31963434	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537732652	chr16:31963450-31963451	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs556435539	chr16:31963500-31963501	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs574516874	chr16:31963542-31963543	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535647137	chr16:31963573-31963574	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs553860502	chr16:31963598-31963599	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs572159491	chr16:31963681-31963682	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs545964612	chr16:31963682-31963683	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs563907341	chr16:31963719-31963720	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs139877814	chr16:31963770-31963771	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs576025150	chr16:31963786-31963787	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs543725950	chr16:31963802-31963803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562428169	chr16:31963856-31963857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529400774	chr16:31963893-31963894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547594432	chr16:31963929-31963930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559561810	chr16:31963999-31964000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533230913	chr16:31964063-31964064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551885421	chr16:31964117-31964118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112143234	chr16:31964204-31964205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2661736	chr16:31964213-31964214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4107192	chr16:31964292-31964293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537473824	chr16:31964380-31964381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549760560	chr16:31964392-31964393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7500857	chr16:31971070-31971071	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs7500861	chr16:31971086-31971087	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs113145928	chr16:31971135-31971136	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs369781302	chr16:31971179-31971180	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs201495592	chr16:31971198-31971199	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs182563267	chr16:31971220-31971221	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs150981497	chr16:31971289-31971290	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs552492481	chr16:31971328-31971329	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs571050649	chr16:31971349-31971350	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs199666081	chr16:31971402-31971403	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs537935002	chr16:31971410-31971411	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs556631553	chr16:31971411-31971412	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs568083602	chr16:31971412-31971413	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs535461715	chr16:31971424-31971425	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs536110357	chr16:31971436-31971437	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs554404995	chr16:31971456-31971457	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs554560419	chr16:31971457-31971458	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs572793658	chr16:31971551-31971552	Inactive region	TF binding region	2 gene(s)	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31962600-31963000	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr16:31962600-31963400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:31962800-31963400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:31962800-31963600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr16:31962800-31963600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr16:31963200-31963400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr16:31963200-31964000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:31963600-31964200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr16:31964200-31964400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr16:31964200-31964400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr16:31971800-31972200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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