Variant report

Variant	nsv917063
Chromosome Location	chr16:35020750-35068935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:35047511-35047736	HepG2	liver:	n/a	chr16:35047601-35047612
2	CEBPB	chr16:35047591-35047687	A549	lung:	n/a	chr16:35047601-35047612
3	CEBPB	chr16:35044480-35044659	IMR90	lung:	n/a	n/a
4	CEBPB	chr16:35044630-35044830	HepG2	liver:	n/a	chr16:35044752-35044763
5	CEBPB	chr16:35044569-35044729	K562	blood:	n/a	n/a
6	CTCF	chr16:35043592-35043620	LNCaP	prostate:	n/a	n/a
7	CTCF	chr16:35043500-35043650	NB4	blood:	n/a	n/a
8	CTCF	chr16:35043500-35043650	HL-60	blood:	n/a	n/a
9	CTCF	chr16:35038420-35038454	GM10248	blood:	n/a	n/a
10	CTCF	chr16:35043560-35043710	HEK293	kidney:	n/a	n/a
11	CTCF	chr16:35043555-35043692	NHEK	skin:	n/a	n/a
12	CTCF	chr16:35043560-35043710	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr16:35043602-35043629	Gliobla	brain:	n/a	n/a
14	CTCF	chr16:35043560-35043710	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr16:35043520-35043670	HCT-116	colon:	n/a	n/a
16	CTCF	chr16:35041106-35041151	GM10266	blood:	n/a	n/a
17	CTCF	chr16:35043420-35043570	RPTEC	kidney:	n/a	n/a
18	CTCF	chr16:35043520-35043670	HepG2	liver:	n/a	n/a
19	CTCF	chr16:35043480-35043630	GM12869	blood:	n/a	n/a
20	CTCF	chr16:35043520-35043670	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr16:35043480-35043630	HCT-116	colon:	n/a	n/a
22	CTCF	chr16:35043460-35043610	HEK293	kidney:	n/a	n/a
23	CTCF	chr16:35043520-35043670	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr16:35043460-35043610	BE2_C	brain:	n/a	n/a
25	CTCF	chr16:35043840-35043990	HCT-116	colon:	n/a	n/a
26	CTCF	chr16:35043520-35043670	K562	blood:	n/a	n/a
27	CTCF	chr16:35043500-35043650	RPTEC	kidney:	n/a	n/a
28	CTCF	chr16:35043542-35043593	LNCaP	prostate:	n/a	n/a
29	CTCF	chr16:35038916-35039001	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr16:35043520-35043670	GM12873	blood:	n/a	n/a
31	CTCF	chr16:35043540-35043690	BE2_C	brain:	n/a	n/a
32	CTCF	chr16:35043552-35043630	HepG2	liver:	n/a	n/a
33	CTCF	chr16:35043540-35043690	NHEK	skin:	n/a	n/a
34	CTCF	chr16:35043580-35043730	NHEK	skin:	n/a	n/a
35	CTCF	chr16:35043631-35043636	HepG2	liver:	n/a	n/a
36	CTCF	chr16:35043176-35043209	LNCaP	prostate:	n/a	n/a
37	CTCF	chr16:35043520-35043670	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr16:35043960-35044110	HCT-116	colon:	n/a	n/a
39	CTCF	chr16:35043540-35043690	GM12873	blood:	n/a	n/a
40	CTCF	chr16:35038644-35038686	Spleen_OC	spleen:	n/a	n/a
41	E2F4	chr16:35056814-35056893	MCF10A-Er-Src	breast:	n/a	n/a
42	EBF1	chr16:35039010-35039215	GM12878	blood:	n/a	n/a
43	EP300	chr16:35033163-35033720	ECC-1	luminal epithelium:	n/a	n/a
44	EP300	chr16:35033183-35033854	ECC-1	luminal epithelium:	n/a	n/a
45	FOSL1	chr16:35043236-35043673	HCT-116	colon:	n/a	chr16:35043359-35043367 chr16:35043360-35043367 chr16:35043358-35043368 chr16:35043358-35043368 chr16:35043359-35043367 chr16:35043343-35043353 chr16:35043343-35043353 chr16:35043355-35043366 chr16:35043343-35043353 chr16:35043494-35043503
46	FOSL1	chr16:35043033-35043764	HCT-116	colon:	n/a	chr16:35043359-35043367 chr16:35043360-35043367 chr16:35043358-35043368 chr16:35043358-35043368 chr16:35043359-35043367 chr16:35043343-35043353 chr16:35043343-35043353 chr16:35043355-35043366 chr16:35043343-35043353 chr16:35043494-35043503
47	FOXA1	chr16:35032183-35032415	ECC-1	luminal epithelium:	n/a	n/a
48	FOXA1	chr16:35032208-35032455	HepG2	liver:	n/a	n/a
49	FOXA1	chr16:35032147-35032493	T-47D	breast:	n/a	n/a
50	FOXA1	chr16:35032215-35032508	T-47D	breast:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:35037569-35037619	SKMC	muscle:	n/a
2	chr16:35027026-35027076	MCF10A-Er-Src	breast:	n/a
3	chr16:35027026-35027076	AG09309	skin:	n/a
4	chr16:35030232-35030282	LNCaP	prostate:	n/a
5	chr16:35037569-35037619	AG09309	skin:	n/a
6	chr16:35027418-35027468	ECC-1	luminal epithelium:	n/a
7	chr16:35029890-35029940	HL-60	blood:	n/a
8	chr16:35029997-35030047	AG09319	gingival:	n/a
9	chr16:35027026-35027076	H1-hESC	embryonic stem cell:	embryo
10	chr16:35027418-35027468	NT2-D1	testis:	n/a
11	chr16:35030232-35030282	HNPCEpiC	eye:	n/a
12	chr16:35027418-35027468	SK-N-MC	brain:	n/a
13	chr16:35027026-35027076	Hepatocyte	liver:	n/a
14	chr16:35037569-35037619	SK-N-SH	brain:	n/a
15	chr16:35029997-35030047	ECC-1	luminal epithelium:	n/a
16	chr16:35029997-35030047	SK-N-SH	brain:	n/a
17	chr16:35029997-35030047	HNPCEpiC	eye:	n/a
18	chr16:35026985-35027035	AG04449	skin:	fetal
19	chr16:35029890-35029940	PFSK-1	brain:	n/a
20	chr16:35027418-35027468	H1-hESC	embryonic stem cell:	embryo
21	chr16:35037569-35037619	SK-N-SH_RA	brain:	n/a
22	chr16:35037569-35037619	BJ	skin:	n/a
23	chr16:35027026-35027076	HMEC	breast:	n/a
24	chr16:35027418-35027468	HCM	heart:	n/a
25	chr16:35027026-35027076	NT2-D1	testis:	n/a
26	chr16:35027418-35027468	HL-60	blood:	n/a
27	chr16:35030232-35030282	HIPEpiC	eye:	n/a
28	chr16:35027418-35027468	HPAEpiC	pulmonary alveolar:	n/a
29	chr16:35027418-35027468	T-47D	breast:	n/a
30	chr16:35029997-35030047	HPAEpiC	pulmonary alveolar:	n/a
31	chr16:35027026-35027076	GM12891	blood:	n/a
32	chr16:35026985-35027035	HCT-116	colon:	n/a
33	chr16:35027026-35027076	HRPEpiC	eye:	n/a
34	chr16:35029890-35029940	GM12891	blood:	n/a
35	chr16:35027026-35027076	AG09319	gingival:	n/a
36	chr16:35029890-35029940	HUVEC	blood vessel:	n/a
37	chr16:35027418-35027468	GM19239	blood:	n/a
38	chr16:35030232-35030282	AoSMC	blood vessel:	n/a
39	chr16:35037569-35037619	HNPCEpiC	eye:	n/a
40	chr16:35027418-35027468	AG09319	gingival:	n/a
41	chr16:35027418-35027468	HMEC	breast:	n/a
42	chr16:35029997-35030047	SK-N-MC	brain:	n/a
43	chr16:35030232-35030282	NHBE	bronchial:	n/a
44	chr16:35026985-35027035	BE2_C	brain:	n/a
45	chr16:35037569-35037619	CMK	blood:	n/a
46	chr16:35027418-35027468	LNCaP	prostate:	n/a
47	chr16:35030232-35030282	HRCEpiC	kidney:	n/a
48	chr16:35027026-35027076	PANC-1	pancreas:	n/a
49	chr16:35037569-35037619	MCF10A-Er-Src	breast:	n/a
50	chr16:35027418-35027468	PANC-1	pancreas:	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LINC00273-9	chr16:35019940-35021258	ENSG00000260611.1
2	lnc-LINC00273-31	chr16:35036459-35037041	NONHSAT142244

No data

Variant related genes	Relation type
VN1R70P	TF binding region
ENSG00000260611	TF binding region
HMGN2P41	TF binding region
VN1R70P	CpG island
ENSG00000260611	CpG island
HMGN2P41	CpG island

Extended variants
information (count: 894 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:894 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557309178	chr16:35020753-35020754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs569220875	chr16:35020803-35020804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs536244398	chr16:35020844-35020845	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs554639308	chr16:35020873-35020874	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs376535409	chr16:35020883-35020884	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs371664566	chr16:35020896-35020897	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs539923547	chr16:35020900-35020901	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs113509440	chr16:35020945-35020946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs191800505	chr16:35020950-35020951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs558635573	chr16:35020952-35020953	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs573929387	chr16:35020976-35020977	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs183976876	chr16:35020985-35020986	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs146988035	chr16:35021003-35021004	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs34609834	chr16:35021010-35021011	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs531152336	chr16:35021019-35021020	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs542598660	chr16:35021041-35021042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs137984965	chr16:35021042-35021043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs528500970	chr16:35021056-35021057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs113448875	chr16:35021057-35021058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs142042160	chr16:35021072-35021073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs532930202	chr16:35021101-35021102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs550835309	chr16:35021105-35021106	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs138378727	chr16:35021140-35021141	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs149257721	chr16:35021156-35021157	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs554869334	chr16:35021164-35021165	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs566312406	chr16:35021185-35021186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs533792295	chr16:35021193-35021194	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs558322502	chr16:35021194-35021195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs372664845	chr16:35021201-35021202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs116710764	chr16:35021213-35021214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs545189610	chr16:35021230-35021231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs557168863	chr16:35021253-35021254	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs545574191	chr16:35021256-35021257	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs144815920	chr16:35021462-35021463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569043128	chr16:35021472-35021473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs77265134	chr16:35021482-35021483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs548145652	chr16:35021501-35021502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192128325	chr16:35021503-35021504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs546647236	chr16:35021520-35021521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185090592	chr16:35021566-35021567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs551353214	chr16:35021577-35021578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190466575	chr16:35021584-35021585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537580093	chr16:35021585-35021586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555864587	chr16:35021601-35021602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540633609	chr16:35021633-35021634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565350830	chr16:35021660-35021661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536855291	chr16:35021685-35021686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554959500	chr16:35021693-35021694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs148168869	chr16:35021708-35021709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs142919983	chr16:35021728-35021729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Medulloblastoma	21163964	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35021400-35025800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:35022000-35023600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:35025200-35026200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:35025600-35026400	Enhancers	NHEK	skin
5	chr16:35026400-35026600	ZNF genes & repeats	Fetal Brain Female	brain
6	chr16:35029000-35029600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:35029600-35030400	ZNF genes & repeats	Placenta	Placenta
8	chr16:35029800-35030000	Enhancers	Stomach Mucosa	stomach
9	chr16:35029800-35030200	ZNF genes & repeats	Lung	lung
10	chr16:35030200-35030400	ZNF genes & repeats	Gastric	stomach
11	chr16:35030400-35031600	Weak transcription	Gastric	stomach
12	chr16:35031600-35031800	Enhancers	Gastric	stomach
13	chr16:35032000-35033000	Enhancers	Stomach Mucosa	stomach
14	chr16:35033200-35033600	Enhancers	Dnd41	blood
15	chr16:35033400-35033600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:35033600-35035800	Weak transcription	Dnd41	blood
17	chr16:35033800-35034200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:35035800-35036200	ZNF genes & repeats	Dnd41	blood
19	chr16:35036200-35039200	Weak transcription	Dnd41	blood
20	chr16:35037000-35037400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:35039200-35039400	Enhancers	Dnd41	blood
22	chr16:35044600-35044800	ZNF genes & repeats	Fetal Brain Female	brain
23	chr16:35045000-35046800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:35067800-35068400	Enhancers	Dnd41	blood

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