Variant report

Variant	nsv962221
Chromosome Location	chr16:34989803-35028798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr16:35014008-35014034	MCF10A-Er-Src	breast:	n/a	n/a
2	IRF1	chr16:34997904-34997906	K562	blood:	n/a	n/a
3	KAP1	chr16:35019336-35019798	HEK293	kidney:	n/a	n/a
4	KAP1	chr16:34999575-35000167	HEK293	kidney:	n/a	n/a
5	MAFK	chr16:35010098-35010165	HepG2	liver:	n/a	n/a
6	MAZ	chr16:35027534-35027576	HepG2	liver:	n/a	n/a
7	MYC	chr16:35026999-35027007	MCF-7	breast:	n/a	n/a
8	NFIC	chr16:35027957-35028421	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr16:35028041-35028450	ECC-1	luminal epithelium:	n/a	n/a
10	NRF1	chr16:35027334-35027755	SK-N-SH	brain:	n/a	chr16:35027459-35027470 chr16:35027459-35027468 chr16:35027461-35027470 chr16:35027459-35027473
11	POLR2A	chr16:35027452-35027477	MCF-7	breast:	n/a	n/a
12	POLR2A	chr16:35027383-35027402	MCF-7	breast:	n/a	n/a
13	POLR2A	chr16:34991244-34991522	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr16:35018946-35019036	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr16:35010566-35010659	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr16:35000847-35000901	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr16:35022831-35022849	MCF-7	breast:	n/a	n/a
18	POLR2A	chr16:35022871-35022873	MCF-7	breast:	n/a	n/a
19	POLR2A	chr16:35007299-35007315	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr16:35027153-35027264	K562	blood:	n/a	n/a
21	POLR2A	chr16:35015179-35015291	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr16:35022864-35022870	MCF-7	breast:	n/a	n/a
23	POLR2A	chr16:35027385-35027472	MCF-7	breast:	n/a	n/a
24	POLR2A	chr16:35026928-35027050	MCF-7	breast:	n/a	n/a
25	POLR2A	chr16:35001574-35001575	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr16:35022818-35022827	MCF-7	breast:	n/a	n/a
27	SETDB1	chr16:35013844-35014111	U2OS	brain:	n/a	n/a
28	SETDB1	chr16:34999479-35000055	U2OS	brain:	n/a	n/a
29	SETDB1	chr16:34992290-34992950	U2OS	brain:	n/a	n/a
30	SETDB1	chr16:35016941-35017613	U2OS	brain:	n/a	n/a
31	SETDB1	chr16:35019118-35019867	U2OS	brain:	n/a	n/a
32	SETDB1	chr16:35002699-35003297	U2OS	brain:	n/a	n/a
33	STAT3	chr16:34995117-34995137	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr16:35005058-35005225	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:35026985-35027035	AG09319	gingival:	n/a
2	chr16:35026985-35027035	HPAEpiC	pulmonary alveolar:	n/a
3	chr16:35027418-35027468	NB4	blood:	n/a
4	chr16:35027418-35027468	T-47D	breast:	n/a
5	chr16:35026985-35027035	HUVEC	blood vessel:	n/a
6	chr16:35026985-35027035	A549	lung:	n/a
7	chr16:35026985-35027035	HEK293	kidney:	embryo
8	chr16:35027026-35027076	NH-A	brain:	n/a
9	chr16:35027026-35027076	H1-hESC	embryonic stem cell:	embryo
10	chr16:35026985-35027035	HRPEpiC	eye:	n/a
11	chr16:35026985-35027035	HMEC	breast:	n/a
12	chr16:35027418-35027468	AG09319	gingival:	n/a
13	chr16:35027418-35027468	HAEpiC	amniotic membrane:	n/a
14	chr16:35027026-35027076	A549	lung:	n/a
15	chr16:35027418-35027468	Caco-2	colon:	n/a
16	chr16:35027026-35027076	HCF	heart:	n/a
17	chr16:35026985-35027035	Hepatocyte	liver:	n/a
18	chr16:35026985-35027035	NT2-D1	testis:	n/a
19	chr16:35027026-35027076	HNPCEpiC	eye:	n/a
20	chr16:35027418-35027468	ECC-1	luminal epithelium:	n/a
21	chr16:35027026-35027076	GM12878	blood:	n/a
22	chr16:35026985-35027035	RPTEC	kidney:	n/a
23	chr16:35027418-35027468	SKMC	muscle:	n/a
24	chr16:35026985-35027035	SK-N-MC	brain:	n/a
25	chr16:35027418-35027468	K562	blood:	n/a
26	chr16:35027418-35027468	NHBE	bronchial:	n/a
27	chr16:35026985-35027035	HAEpiC	amniotic membrane:	n/a
28	chr16:35027418-35027468	GM19239	blood:	n/a
29	chr16:35027026-35027076	IMR90	lung:	fetal
30	chr16:35027418-35027468	HRCEpiC	kidney:	n/a
31	chr16:35027026-35027076	SK-N-SH	brain:	n/a
32	chr16:35027026-35027076	HCPEpiC	choroid plexus:	n/a
33	chr16:35027026-35027076	T-47D	breast:	n/a
34	chr16:35027418-35027468	ovcar-3	ovarian:	n/a
35	chr16:35026985-35027035	SK-N-SH_RA	brain:	n/a
36	chr16:35027026-35027076	Jurkat	blood:	n/a
37	chr16:35026985-35027035	GM06990	blood:	n/a
38	chr16:35027418-35027468	HCPEpiC	choroid plexus:	n/a
39	chr16:35027026-35027076	AG04449	skin:	fetal
40	chr16:35027418-35027468	HRE	kidney:	n/a
41	chr16:35027026-35027076	HEK293	kidney:	embryo
42	chr16:35026985-35027035	ECC-1	luminal epithelium:	n/a
43	chr16:35027418-35027468	PFSK-1	brain:	n/a
44	chr16:35027418-35027468	HIPEpiC	eye:	n/a
45	chr16:35027026-35027076	HRCEpiC	kidney:	n/a
46	chr16:35027418-35027468	HCM	heart:	n/a
47	chr16:35027418-35027468	LNCaP	prostate:	n/a
48	chr16:35026985-35027035	GM12891	blood:	n/a
49	chr16:35026985-35027035	SAEC	small airway:	n/a
50	chr16:35026985-35027035	NB4	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LINC00273-9	chr16:35019940-35021258	ENSG00000260611.1

No data

Variant related genes	Relation type
ENSG00000260611	TF binding region
ENSG00000260611	CpG island

Extended variants
information (count: 713 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35629103	chr16:34999013-34999014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185203731	chr16:34999064-34999065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs375244665	chr16:34999066-34999067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs59423657	chr16:34999101-34999102	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115596800	chr16:34999123-34999124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs544525849	chr16:34999188-34999189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538403385	chr16:34999215-34999216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369426736	chr16:34999231-34999232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561448678	chr16:34999244-34999245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs150249974	chr16:34999269-34999270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs544106885	chr16:34999270-34999271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs56034534	chr16:34999279-34999280	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573448382	chr16:34999304-34999305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs75761347	chr16:34999320-34999321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547364933	chr16:34999338-34999339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555539978	chr16:34999396-34999397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs61359560	chr16:34999412-34999413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541372416	chr16:34999423-34999424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs77450631	chr16:34999437-34999438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189585760	chr16:34999442-34999443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181126302	chr16:34999487-34999488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs539537040	chr16:34999513-34999514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs544275005	chr16:34999519-34999520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562926294	chr16:34999537-34999538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530697850	chr16:34999551-34999552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs186946328	chr16:34999557-34999558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs138778739	chr16:34999568-34999569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35503401	chr16:34999574-34999575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368881497	chr16:34999579-34999580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191843104	chr16:34999584-34999585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201837518	chr16:34999618-34999619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200276328	chr16:34999624-34999625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs115696260	chr16:34999658-34999659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs571196976	chr16:34999729-34999730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538710355	chr16:34999753-34999754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs35715969	chr16:34999776-34999777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183392829	chr16:34999803-34999804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186206857	chr16:34999804-34999805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190769307	chr16:34999846-34999847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs182205353	chr16:34999847-34999848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs62059101	chr16:34999851-34999852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374391108	chr16:34999880-34999881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540283036	chr16:34999954-34999955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs8055121	chr16:34999970-34999971	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs116653407	chr16:35006860-35006861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570694292	chr16:35006881-35006882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538059699	chr16:35006882-35006883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs560313119	chr16:35006941-35006942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs373684973	chr16:35006984-35006985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs376441582	chr16:35007012-35007013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Colorectal cancer	16272173	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34999000-35000000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:35006800-35009000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:35013200-35014000	ZNF genes & repeats	Dnd41	blood
4	chr16:35015200-35015800	Active TSS	Liver	Liver
5	chr16:35017200-35020600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:35018200-35018800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr16:35021400-35025800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:35022000-35023600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:35025200-35026200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:35025600-35026400	Enhancers	NHEK	skin
11	chr16:35026400-35026600	ZNF genes & repeats	Fetal Brain Female	brain

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