Variant report

Variant	nsv984312
Chromosome Location	chr16:32044264-32079325
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	chr16:32059238-32059578	GM12878	blood:	n/a	n/a
2	BATF	chr16:32059227-32059446	GM12878	blood:	n/a	n/a
3	BATF	chr16:32050371-32050791	GM12878	blood:	n/a	n/a
4	BCL11A	chr16:32059954-32060170	GM12878	blood:	n/a	n/a
5	CBX3	chr16:32050646-32050949	K562	blood:	n/a	n/a
6	CBX3	chr16:32050399-32050591	K562	blood:	n/a	n/a
7	CEBPB	chr16:32073025-32073229	HepG2	liver:	n/a	chr16:32073200-32073211
8	CHD2	chr16:32051321-32051488	HepG2	liver:	n/a	n/a
9	CTCF	chr16:32051360-32051510	GM12872	blood:	n/a	chr16:32051440-32051456 chr16:32051444-32051454
10	CTCF	chr16:32050140-32050290	HVMF	connective:	n/a	n/a
11	CTCF	chr16:32077686-32077830	MCF-7	breast:	n/a	chr16:32077744-32077754 chr16:32077740-32077756
12	CTCF	chr16:32050823-32050918	GM20000	blood:	n/a	n/a
13	CTCF	chr16:32050398-32050401	Medullo	brain:	n/a	n/a
14	CTCF	chr16:32050427-32050717	GM12891	blood:	n/a	chr16:32050439-32050448
15	CTCF	chr16:32050160-32050310	GM06990	blood:	n/a	n/a
16	CTCF	chr16:32077719-32077798	GM10248	blood:	n/a	chr16:32077744-32077754 chr16:32077740-32077756
17	CTCF	chr16:32050560-32050710	HCT-116	colon:	n/a	n/a
18	CTCF	chr16:32050260-32050410	HEK293	kidney:	n/a	n/a
19	CTCF	chr16:32050600-32050750	GM06990	blood:	n/a	n/a
20	CTCF	chr16:32050280-32050430	GM06990	blood:	n/a	n/a
21	CTCF	chr16:32050263-32050278	Fibrobl	skin:	n/a	n/a
22	CTCF	chr16:32077697-32077799	GM12891	blood:	n/a	chr16:32077744-32077754 chr16:32077740-32077756
23	CTCF	chr16:32050181-32050421	T-47D	breast:	n/a	n/a
24	CTCF	chr16:32050478-32050592	Fibrobl	skin:	n/a	n/a
25	CTCF	chr16:32050525-32050822	MCF-7	breast:	n/a	n/a
26	CTCF	chr16:32051360-32051510	GM12874	blood:	n/a	chr16:32051440-32051456 chr16:32051444-32051454
27	CTCF	chr16:32051420-32051570	MCF-7	breast:	n/a	chr16:32051440-32051456 chr16:32051444-32051454
28	CTCF	chr16:32077640-32077790	GM12873	blood:	n/a	chr16:32077744-32077754 chr16:32077740-32077756
29	CTCF	chr16:32050580-32050730	GM12871	blood:	n/a	n/a
30	CTCF	chr16:32050600-32050750	GM12878	blood:	n/a	n/a
31	CTCF	chr16:32076665-32076696	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr16:32050463-32050640	GM12892	blood:	n/a	n/a
33	CTCF	chr16:32050560-32050710	GM12869	blood:	n/a	n/a
34	CTCF	chr16:32050520-32050670	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr16:32054643-32054668	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr16:32051361-32051543	MCF-7	breast:	n/a	chr16:32051440-32051456 chr16:32051444-32051454
37	CTCF	chr16:32051380-32051530	GM06990	blood:	n/a	chr16:32051440-32051456 chr16:32051444-32051454
38	CTCF	chr16:32050147-32050796	HepG2	liver:	n/a	chr16:32050439-32050448
39	CTCF	chr16:32051320-32051470	SK-N-SH_RA	brain:	n/a	chr16:32051440-32051456 chr16:32051444-32051454
40	CTCF	chr16:32050180-32050330	HCT-116	colon:	n/a	n/a
41	CTCF	chr16:32051360-32051510	GM12871	blood:	n/a	chr16:32051440-32051456 chr16:32051444-32051454
42	CTCF	chr16:32077740-32077890	SK-N-SH_RA	brain:	n/a	chr16:32077744-32077754 chr16:32077740-32077756
43	CTCF	chr16:32050547-32050759	HepG2	liver:	n/a	n/a
44	CTCF	chr16:32077640-32077790	GM12866	blood:	n/a	chr16:32077744-32077754 chr16:32077740-32077756
45	CTCF	chr16:32051320-32051470	GM12874	blood:	n/a	chr16:32051440-32051456 chr16:32051444-32051454
46	CTCF	chr16:32050224-32050770	MCF-7	breast:	n/a	chr16:32050439-32050448
47	CTCF	chr16:32050453-32050675	MCF-7	breast:	n/a	n/a
48	CTCF	chr16:32077603-32077921	GM12878	blood:	n/a	chr16:32077744-32077754 chr16:32077740-32077756
49	CTCF	chr16:32077640-32077790	MCF-7	breast:	n/a	chr16:32077744-32077754 chr16:32077740-32077756
50	CTCF	chr16:32050260-32050410	HCPEpiC	choroid plexus:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:32049224-32049274	SK-N-SH	brain:	n/a
2	chr16:32049224-32049274	ECC-1	luminal epithelium:	n/a
3	chr16:32049224-32049274	GM12891	blood:	n/a
4	chr16:32049224-32049274	ProgFib	skin:	n/a
5	chr16:32049224-32049274	HepG2	liver:	n/a
6	chr16:32049224-32049274	AoSMC	blood vessel:	n/a
7	chr16:32049224-32049274	HL-60	blood:	n/a
8	chr16:32049224-32049274	AG04450	lung:	fetal
9	chr16:32049224-32049274	HUVEC	blood vessel:	n/a
10	chr16:32049224-32049274	HCT-116	colon:	n/a
11	chr16:32049224-32049274	RPTEC	kidney:	n/a
12	chr16:32049224-32049274	IMR90	lung:	fetal
13	chr16:32049224-32049274	K562	blood:	n/a
14	chr16:32049224-32049274	ovcar-3	ovarian:	n/a
15	chr16:32049224-32049274	GM12892	blood:	n/a
16	chr16:32049224-32049274	SAEC	small airway:	n/a
17	chr16:32049224-32049274	HCF	heart:	n/a
18	chr16:32049224-32049274	A549	lung:	n/a
19	chr16:32049224-32049274	AG04449	skin:	fetal
20	chr16:32049224-32049274	GM12878	blood:	n/a
21	chr16:32049224-32049274	HNPCEpiC	eye:	n/a
22	chr16:32049224-32049274	BJ	skin:	n/a
23	chr16:32049224-32049274	SKMC	muscle:	n/a
24	chr16:32049224-32049274	NHBE	bronchial:	n/a
25	chr16:32049224-32049274	PrEC	prostate:	n/a
26	chr16:32049224-32049274	HMEC	breast:	n/a
27	chr16:32049224-32049274	NH-A	brain:	n/a
28	chr16:32049224-32049274	AG09309	skin:	n/a
29	chr16:32049224-32049274	HRPEpiC	eye:	n/a
30	chr16:32049224-32049274	Caco-2	colon:	n/a
31	chr16:32049224-32049274	HEK293	kidney:	embryo
32	chr16:32049224-32049274	HAEpiC	amniotic membrane:	n/a
33	chr16:32049224-32049274	SK-N-MC	brain:	n/a
34	chr16:32049224-32049274	CMK	blood:	n/a
35	chr16:32049224-32049274	HRE	kidney:	n/a
36	chr16:32049224-32049274	NHDF-neo	bronchial:	n/a
37	chr16:32049224-32049274	SK-N-SH_RA	brain:	n/a
38	chr16:32049224-32049274	HPAEpiC	pulmonary alveolar:	n/a
39	chr16:32049224-32049274	AG10803	skin:	n/a
40	chr16:32049224-32049274	Hela-S3	cervix:	n/a
41	chr16:32049224-32049274	HRCEpiC	kidney:	n/a
42	chr16:32049224-32049274	NB4	blood:	n/a
43	chr16:32049224-32049274	HEEpiC	esophagus:	n/a
44	chr16:32049224-32049274	HCPEpiC	choroid plexus:	n/a
45	chr16:32049224-32049274	NT2-D1	testis:	n/a
46	chr16:32049224-32049274	GM06990	blood:	n/a
47	chr16:32049224-32049274	T-47D	breast:	n/a
48	chr16:32049224-32049274	Jurkat	blood:	n/a
49	chr16:32049224-32049274	PFSK-1	brain:	n/a
50	chr16:32049224-32049274	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:106598214..106598843-chr16:32050606..32051126,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223931	TF binding region
IGHV1OR16-1	TF binding region
IGHV3OR16-9	TF binding region
IGHV1OR16-3	TF binding region
ENSG00000223931	CpG island
IGHV1OR16-1	CpG island
IGHV3OR16-9	CpG island
IGHV1OR16-3	CpG island

Extended variants
information (count: 105 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573823538	chr16:32051203-32051204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540758058	chr16:32051236-32051237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574541773	chr16:32051240-32051241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532907939	chr16:32051304-32051305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188681550	chr16:32051312-32051313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143757583	chr16:32051319-32051320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148152079	chr16:32051333-32051334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549677262	chr16:32051356-32051357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377754252	chr16:32051360-32051361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28660045	chr16:32051370-32051371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546649757	chr16:32051371-32051372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571414226	chr16:32051373-32051374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538623887	chr16:32051378-32051379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556954074	chr16:32051396-32051397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575630441	chr16:32051404-32051405	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147335069	chr16:32051434-32051435	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191538664	chr16:32051439-32051440	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573711752	chr16:32051450-32051451	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541222318	chr16:32051453-32051454	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559462573	chr16:32051454-32051455	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577828885	chr16:32051466-32051467	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113971092	chr16:32051468-32051469	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563251256	chr16:32051483-32051484	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530575389	chr16:32051484-32051485	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111324647	chr16:32051501-32051502	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549404447	chr16:32051504-32051505	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117429084	chr16:32051522-32051523	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112866414	chr16:32051549-32051550	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528631124	chr16:32051556-32051557	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546814951	chr16:32051568-32051569	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546319081	chr16:32058660-32058661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs551814989	chr16:32059209-32059210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs570457121	chr16:32059210-32059211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs531309151	chr16:32059264-32059265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs549526887	chr16:32059417-32059418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs568084109	chr16:32059431-32059432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs536135465	chr16:32059469-32059470	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs554554866	chr16:32059521-32059522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs566270669	chr16:32059586-32059587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs540050697	chr16:32059587-32059588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs558252279	chr16:32059619-32059620	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs113469618	chr16:32059959-32059960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574023865	chr16:32060122-32060123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs377053334	chr16:32062924-32062925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532997278	chr16:32062943-32062944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs545334297	chr16:32062944-32062945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs371442372	chr16:32062951-32062952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs373351129	chr16:32062956-32062957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs564010297	chr16:32062960-32062961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs530984039	chr16:32063006-32063007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:32051200-32051600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr16:32051400-32051600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:32051400-32051600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:32077600-32078000	Enhancers	Dnd41	blood

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