Variant report

Variant	nsv960018
Chromosome Location	chr16:34386660-34409650
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	CTCF	chr16:34400529-34400582	Kidney_OC	kidney:	n/a	n/a
2	FOXA1	chr16:34394861-34395185	HepG2	liver:	n/a	n/a
3	FOXA1	chr16:34392090-34392343	HepG2	liver:	n/a	n/a
4	FOXA2	chr16:34392000-34392423	A549	lung:	n/a	n/a
5	FOXA2	chr16:34392020-34392338	A549	lung:	n/a	n/a
6	FOXA2	chr16:34394655-34395308	A549	lung:	n/a	n/a
7	FOXA2	chr16:34394747-34395168	A549	lung:	n/a	n/a
8	HEY1	chr16:34394893-34395103	K562	blood:	n/a	n/a
9	JUND	chr16:34394959-34395084	HepG2	liver:	n/a	n/a
10	MAFF	chr16:34405144-34405189	K562	blood:	n/a	chr16:34405159-34405177
11	MAFF	chr16:34405048-34405344	HepG2	liver:	n/a	chr16:34405159-34405177
12	MAFK	chr16:34405037-34405342	HepG2	liver:	n/a	chr16:34405161-34405176 chr16:34405162-34405173 chr16:34405160-34405174 chr16:34405161-34405172 chr16:34405161-34405172 chr16:34405161-34405177
13	MAFK	chr16:34405057-34405302	HepG2	liver:	n/a	chr16:34405161-34405176 chr16:34405162-34405173 chr16:34405160-34405174 chr16:34405161-34405172 chr16:34405161-34405172 chr16:34405161-34405177
14	MAFK	chr16:34405130-34405238	K562	blood:	n/a	chr16:34405161-34405176 chr16:34405162-34405173 chr16:34405160-34405174 chr16:34405161-34405172 chr16:34405161-34405172 chr16:34405161-34405177
15	MAFK	chr16:34405085-34405352	IMR90	lung:	n/a	chr16:34405161-34405176 chr16:34405162-34405173 chr16:34405160-34405174 chr16:34405161-34405172 chr16:34405161-34405172 chr16:34405161-34405177
16	MAX	chr16:34405613-34405792	NB4	blood:	n/a	chr16:34405685-34405696 chr16:34405684-34405697 chr16:34405688-34405695
17	POLR2A	chr16:34404735-34404770	A549	lung:	n/a	n/a
18	POLR2A	chr16:34387226-34387296	MCF-7	breast:	n/a	n/a
19	POLR2A	chr16:34404686-34404784	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:34404473-34404551	MCF-7	breast:	n/a	n/a
21	POLR2A	chr16:34408843-34408900	MCF-7	breast:	n/a	n/a
22	POLR2A	chr16:34404664-34404807	A549	lung:	n/a	n/a
23	POLR2A	chr16:34404320-34404544	K562	blood:	n/a	n/a
24	POLR2A	chr16:34404552-34404768	MCF-7	breast:	n/a	n/a
25	POLR2A	chr16:34408537-34408734	MCF-7	breast:	n/a	n/a
26	POLR2A	chr16:34404540-34404871	Gliobla	brain:	n/a	n/a
27	POLR2A	chr16:34403913-34403966	K562	blood:	n/a	n/a
28	POLR2A	chr16:34404647-34404779	A549	lung:	n/a	n/a
29	POLR2A	chr16:34390252-34390424	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr16:34404486-34404615	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:34404533-34404541	MCF-7	breast:	n/a	n/a
32	POLR2A	chr16:34404507-34404537	Gliobla	brain:	n/a	n/a
33	POLR2A	chr16:34408674-34408756	MCF-7	breast:	n/a	n/a
34	POLR2A	chr16:34392115-34392283	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr16:34404669-34404797	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr16:34404689-34404797	A549	lung:	n/a	n/a
37	POLR2A	chr16:34404692-34404769	A549	lung:	n/a	n/a
38	POLR2A	chr16:34404682-34404788	GM12878	blood:	n/a	n/a
39	POLR2A	chr16:34408797-34408800	MCF-7	breast:	n/a	n/a
40	POLR2A	chr16:34394880-34395241	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr16:34390119-34390167	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr16:34409071-34409118	GM12878	blood:	n/a	n/a
43	REST	chr16:34394927-34395137	PANC-1	pancreas:	n/a	n/a
44	REST	chr16:34400932-34400981	PANC-1	pancreas:	n/a	n/a
45	TAF1	chr16:34394852-34395152	H1-hESC	embryonic stem cell:	n/a	n/a
46	TCF12	chr16:34394895-34395162	HepG2	liver:	n/a	n/a
47	ZBTB33	chr16:34394979-34395087	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34404673-34404723	K562	blood:	n/a
2	chr16:34407918-34407968	CMK	blood:	n/a
3	chr16:34404673-34404723	K562	blood:	n/a
4	chr16:34407918-34407968	CMK	blood:	n/a
5	chr16:34404619-34404669	T-47D	breast:	n/a
6	chr16:34407918-34407968	AG04450	lung:	fetal
7	chr16:34407715-34407765	ovcar-3	ovarian:	n/a
8	chr16:34408014-34408064	PrEC	prostate:	n/a
9	chr16:34404673-34404723	HAEpiC	amniotic membrane:	n/a
10	chr16:34403971-34404021	A549	lung:	n/a
11	chr16:34404774-34404824	SAEC	small airway:	n/a
12	chr16:34404619-34404669	CMK	blood:	n/a
13	chr16:34404524-34404574	NH-A	brain:	n/a
14	chr16:34404772-34404822	BJ	skin:	n/a
15	chr16:34407715-34407765	GM06990	blood:	n/a
16	chr16:34407868-34407918	SAEC	small airway:	n/a
17	chr16:34407715-34407765	HRCEpiC	kidney:	n/a
18	chr16:34403971-34404021	T-47D	breast:	n/a
19	chr16:34407868-34407918	HCM	heart:	n/a
20	chr16:34404524-34404574	SK-N-MC	brain:	n/a
21	chr16:34407868-34407918	SKMC	muscle:	n/a
22	chr16:34407868-34407918	IMR90	lung:	fetal
23	chr16:34403971-34404021	LNCaP	prostate:	n/a
24	chr16:34404054-34404104	GM19239	blood:	n/a
25	chr16:34407868-34407918	HUVEC	blood vessel:	n/a
26	chr16:34403971-34404021	NT2-D1	testis:	n/a
27	chr16:34409092-34409142	MCF10A-Er-Src	breast:	n/a
28	chr16:34409092-34409142	AG09309	skin:	n/a
29	chr16:34404524-34404574	GM12892	blood:	n/a
30	chr16:34404524-34404574	Caco-2	colon:	n/a
31	chr16:34404772-34404822	LNCaP	prostate:	n/a
32	chr16:34408014-34408064	MCF10A-Er-Src	breast:	n/a
33	chr16:34404673-34404723	HCPEpiC	choroid plexus:	n/a
34	chr16:34403971-34404021	U87	brain:	n/a
35	chr16:34404772-34404822	PrEC	prostate:	n/a
36	chr16:34407715-34407765	SK-N-MC	brain:	n/a
37	chr16:34404619-34404669	AG09319	gingival:	n/a
38	chr16:34405690-34405740	AoSMC	blood vessel:	n/a
39	chr16:34407715-34407765	T-47D	breast:	n/a
40	chr16:34404524-34404574	AoSMC	blood vessel:	n/a
41	chr16:34404772-34404822	Caco-2	colon:	n/a
42	chr16:34403971-34404021	GM12891	blood:	n/a
43	chr16:34407715-34407765	HCF	heart:	n/a
44	chr16:34408014-34408064	NHDF-neo	bronchial:	n/a
45	chr16:34407760-34407810	GM12891	blood:	n/a
46	chr16:34407760-34407810	HUVEC	blood vessel:	n/a
47	chr16:34404054-34404104	MCF10A-Er-Src	breast:	n/a
48	chr16:34403971-34404021	HAEpiC	amniotic membrane:	n/a
49	chr16:34408014-34408064	LNCaP	prostate:	n/a
50	chr16:34405690-34405740	IMR90	lung:	fetal

Variant related genes	Relation type
SLC25A1P4	TF binding region
ENSG00000261510	TF binding region
UBE2MP1	TF binding region
SLC25A1P4	CpG island
ENSG00000261510	CpG island
UBE2MP1	CpG island

Extended variants
information (count: 161 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530515163	chr16:34386731-34386732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548618405	chr16:34386736-34386737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115215369	chr16:34386753-34386754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs528042265	chr16:34386800-34386801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs9889059	chr16:34386841-34386842	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571427939	chr16:34386845-34386846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143534347	chr16:34386846-34386847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs531507577	chr16:34386855-34386856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs559829360	chr16:34386871-34386872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs548850914	chr16:34386892-34386893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34977966	chr16:34386923-34386924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186944630	chr16:34386926-34386927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs148034305	chr16:34386932-34386933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs555865056	chr16:34386972-34386973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs191415388	chr16:34386990-34386991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563828016	chr16:34387228-34387229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs207475857	chr16:34403918-34403919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376447700	chr16:34403962-34403963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550027453	chr16:34403965-34403966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs568048991	chr16:34403966-34403967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553599270	chr16:34403971-34403972	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs571914493	chr16:34403975-34403976	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs534260968	chr16:34403976-34403977	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs111444300	chr16:34403979-34403980	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs558801378	chr16:34403980-34403981	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs2170422	chr16:34403989-34403990	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544310123	chr16:34403995-34403996	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs549879501	chr16:34404006-34404007	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs545855022	chr16:34404080-34404081	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs564054509	chr16:34404092-34404093	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs530442470	chr16:34404328-34404329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs564199246	chr16:34404346-34404347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531352975	chr16:34404445-34404446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs543117936	chr16:34404464-34404465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs561308734	chr16:34404512-34404513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs528876619	chr16:34404539-34404540	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs7206496	chr16:34404560-34404561	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565866078	chr16:34404561-34404562	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs533136672	chr16:34404608-34404609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs551331136	chr16:34404619-34404620	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
41	rs569833031	chr16:34404629-34404630	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
42	rs538299730	chr16:34404714-34404715	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
43	rs556707968	chr16:34404722-34404723	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
44	rs568435788	chr16:34404784-34404785	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
45	rs367614885	chr16:34404802-34404803	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
46	rs535878460	chr16:34404839-34404840	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs576901376	chr16:34405039-34405040	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs558022275	chr16:34405080-34405081	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs576589011	chr16:34405149-34405150	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs370596190	chr16:34405151-34405152	Inactive region	TF binding region	2 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
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
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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34374000-34387000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:34407600-34409200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:34408200-34409000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:34408400-34409000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:34409000-34410800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:34409200-34410600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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