Variant report

Variant	esv1796233
Chromosome Location	chr16:31985927-32019408
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	chr16:32001426-32001621	GM12878	blood:	n/a	n/a
2	BATF	chr16:32007628-32007992	GM12878	blood:	n/a	n/a
3	BCL11A	chr16:32001120-32001954	GM12878	blood:	n/a	n/a
4	BCL11A	chr16:32001344-32001697	GM12878	blood:	n/a	n/a
5	CBX3	chr16:32007689-32008189	K562	blood:	n/a	n/a
6	CEBPB	chr16:31992231-31992592	K562	blood:	n/a	chr16:31992407-31992418
7	CEBPB	chr16:31992336-31992524	K562	blood:	n/a	chr16:31992407-31992418
8	CEBPB	chr16:31992189-31992618	K562	blood:	n/a	chr16:31992407-31992418
9	CEBPB	chr16:31992228-31992528	HepG2	liver:	n/a	chr16:31992407-31992418
10	CTCF	chr16:31995549-31995678	GM10266	blood:	n/a	n/a
11	CTCF	chr16:31990574-31990639	LNCaP	prostate:	n/a	n/a
12	CTCF	chr16:32007756-32007927	Hela-S3	cervix:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
13	CTCF	chr16:31998828-31998928	GM13976	blood:	n/a	n/a
14	CTCF	chr16:31988156-31988247	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr16:32007795-32007915	HepG2	liver:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
16	CTCF	chr16:32007727-32007953	GM19238	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
17	CTCF	chr16:31990500-31990578	GM10266	blood:	n/a	chr16:31990549-31990567 chr16:31990555-31990564
18	CTCF	chr16:32007740-32007890	K562	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
19	CTCF	chr16:32000412-32000954	K562	blood:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
20	CTCF	chr16:32000541-32000758	Gliobla	brain:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
21	CTCF	chr16:31995607-31995671	GM13976	blood:	n/a	n/a
22	CTCF	chr16:32009304-32009412	GM13976	blood:	n/a	n/a
23	CTCF	chr16:32007713-32007953	MCF-7	breast:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
24	CTCF	chr16:32007775-32007933	T-47D	breast:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
25	CTCF	chr16:32000986-32001089	Lung_OC	lung:	n/a	n/a
26	CTCF	chr16:32007697-32007938	GM13977	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
27	CTCF	chr16:32000586-32000722	NHEK	skin:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
28	CTCF	chr16:32007740-32007890	HEK293	kidney:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
29	CTCF	chr16:32000595-32000743	GM12878	blood:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
30	CTCF	chr16:31991856-31991909	GM13976	blood:	n/a	n/a
31	CTCF	chr16:32007720-32007870	GM06990	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
32	CTCF	chr16:32007714-32007877	GM13976	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854
33	CTCF	chr16:31992649-31992698	GM10248	blood:	n/a	n/a
34	CTCF	chr16:32007568-32008155	A549	lung:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
35	CTCF	chr16:32007752-32007954	T-47D	breast:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
36	CTCF	chr16:32007686-32008022	LNCaP	prostate:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
37	CTCF	chr16:32000503-32000826	GM10266	blood:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
38	CTCF	chr16:32001989-32002005	GM13976	blood:	n/a	n/a
39	CTCF	chr16:32007800-32007950	GM12869	blood:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
40	CTCF	chr16:32000512-32000879	A549	lung:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
41	CTCF	chr16:32000457-32000848	K562	blood:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
42	CTCF	chr16:32007760-32007910	MCF-7	breast:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
43	CTCF	chr16:32000574-32000873	A549	lung:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
44	CTCF	chr16:32000495-32000896	K562	blood:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
45	CTCF	chr16:32007692-32007970	Medullo	brain:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
46	CTCF	chr16:32000800-32000950	HVMF	connective:	n/a	n/a
47	CTCF	chr16:32000559-32000759	A549	lung:	n/a	chr16:32000681-32000702 chr16:32000686-32000704 chr16:32000688-32000701 chr16:32000692-32000701
48	CTCF	chr16:32007760-32007910	HCT-116	colon:	n/a	chr16:32007831-32007849 chr16:32007834-32007847 chr16:32007833-32007854 chr16:32007888-32007901
49	CTCF	chr16:31991246-31991322	GM20000	blood:	n/a	n/a
50	CTCF	chr16:32002008-32002088	GM20000	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31995423-31995473	HIPEpiC	eye:	n/a
2	chr16:31995423-31995473	HIPEpiC	eye:	n/a
3	chr16:31993231-31993281	K562	blood:	n/a
4	chr16:31993231-31993281	PFSK-1	brain:	n/a
5	chr16:31990956-31991006	A549	lung:	n/a
6	chr16:31993231-31993281	NH-A	brain:	n/a
7	chr16:31993479-31993529	RPTEC	kidney:	n/a
8	chr16:31995423-31995473	MCF-7	breast:	n/a
9	chr16:31997067-31997117	HIPEpiC	eye:	n/a
10	chr16:31995423-31995473	PrEC	prostate:	n/a
11	chr16:31993479-31993529	H1-hESC	embryonic stem cell:	embryo
12	chr16:31995423-31995473	LNCaP	prostate:	n/a
13	chr16:31993231-31993281	NHDF-neo	bronchial:	n/a
14	chr16:31990956-31991006	HL-60	blood:	n/a
15	chr16:31993479-31993529	GM12892	blood:	n/a
16	chr16:31993479-31993529	Caco-2	colon:	n/a
17	chr16:31993479-31993529	HPAEpiC	pulmonary alveolar:	n/a
18	chr16:31995423-31995473	AG04450	lung:	fetal
19	chr16:31993231-31993281	HepG2	liver:	n/a
20	chr16:31997067-31997117	SK-N-SH_RA	brain:	n/a
21	chr16:31990956-31991006	Hepatocyte	liver:	n/a
22	chr16:31993231-31993281	T-47D	breast:	n/a
23	chr16:31993231-31993281	AG04450	lung:	fetal
24	chr16:31993231-31993281	Jurkat	blood:	n/a
25	chr16:31990956-31991006	HepG2	liver:	n/a
26	chr16:31990956-31991006	ECC-1	luminal epithelium:	n/a
27	chr16:31993231-31993281	HEEpiC	esophagus:	n/a
28	chr16:31995423-31995473	NT2-D1	testis:	n/a
29	chr16:31993231-31993281	AoSMC	blood vessel:	n/a
30	chr16:31993231-31993281	SAEC	small airway:	n/a
31	chr16:31995423-31995473	A549	lung:	n/a
32	chr16:31993479-31993529	MCF10A-Er-Src	breast:	n/a
33	chr16:31997067-31997117	SK-N-SH	brain:	n/a
34	chr16:31995423-31995473	Hela-S3	cervix:	n/a
35	chr16:31997067-31997117	HUVEC	blood vessel:	n/a
36	chr16:31993479-31993529	HRCEpiC	kidney:	n/a
37	chr16:31997067-31997117	Jurkat	blood:	n/a
38	chr16:31997067-31997117	HRCEpiC	kidney:	n/a
39	chr16:31993231-31993281	AG09309	skin:	n/a
40	chr16:31997067-31997117	HCF	heart:	n/a
41	chr16:31993479-31993529	T-47D	breast:	n/a
42	chr16:31990956-31991006	NHDF-neo	bronchial:	n/a
43	chr16:31993231-31993281	NB4	blood:	n/a
44	chr16:31997067-31997117	HEEpiC	esophagus:	n/a
45	chr16:31993231-31993281	HCT-116	colon:	n/a
46	chr16:31993479-31993529	SK-N-SH_RA	brain:	n/a
47	chr16:31993231-31993281	SK-N-SH	brain:	n/a
48	chr16:31993479-31993529	Hela-S3	cervix:	n/a
49	chr16:31993231-31993281	ovcar-3	ovarian:	n/a
50	chr16:31990956-31991006	AG10803	skin:	n/a

Variant related genes	Relation type
ENSG00000260628	TF binding region
ENSG00000260628	CpG island

Extended variants
information (count: 104 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549001876	chr16:31985934-31985935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs567859278	chr16:31985951-31985952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs535353498	chr16:31986021-31986022	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs62054107	chr16:31986043-31986044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs640125	chr16:31988985-31988986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375420923	chr16:31990368-31990369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187948646	chr16:31990374-31990375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs555706462	chr16:31990377-31990378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs192416389	chr16:31990392-31990393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs369822481	chr16:31990451-31990452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543568154	chr16:31990493-31990494	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs8051961	chr16:31990552-31990553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs145811056	chr16:31990583-31990584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs372694120	chr16:31990590-31990591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560463827	chr16:31990595-31990596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs527633983	chr16:31990631-31990632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs370303989	chr16:31990654-31990655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs148987842	chr16:31990684-31990685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs518051	chr16:31990729-31990730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs376934211	chr16:31990799-31990800	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs370124923	chr16:31990820-31990821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs143808036	chr16:31990969-31990970	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs377492828	chr16:31990980-31990981	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs553776146	chr16:31990997-31990998	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs539716349	chr16:31991868-31991869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs574031578	chr16:31992207-31992208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs371211343	chr16:31992210-31992211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs475576	chr16:31992225-31992226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs604832	chr16:31992245-31992246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs144993774	chr16:31992285-31992286	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs564361990	chr16:31992339-31992340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs531677256	chr16:31992359-31992360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs192950758	chr16:31992390-31992391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs373764328	chr16:31992410-31992411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2966266	chr16:31992414-31992415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs528947610	chr16:31992480-31992481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs547112399	chr16:31992484-31992485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565290610	chr16:31992568-31992569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs532776142	chr16:31992585-31992586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs551004410	chr16:31992589-31992590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537778463	chr16:31992657-31992658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs62055240	chr16:32001373-32001374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs62055241	chr16:32001381-32001382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs62055242	chr16:32001397-32001398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs62055243	chr16:32001477-32001478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs569160874	chr16:32001480-32001481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs536920247	chr16:32001491-32001492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555255842	chr16:32001703-32001704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567256751	chr16:32001705-32001706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs534485944	chr16:32001752-32001753	Inactive region	TF binding region	1 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: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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