Variant report

Variant	nsv442396
Chromosome Location	chr16:35021918-35059328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:127 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:35044480-35044659	IMR90	lung:	n/a	n/a
2	CEBPB	chr16:35047511-35047736	HepG2	liver:	n/a	chr16:35047601-35047612
3	CEBPB	chr16:35044569-35044729	K562	blood:	n/a	n/a
4	CEBPB	chr16:35047591-35047687	A549	lung:	n/a	chr16:35047601-35047612
5	CEBPB	chr16:35044630-35044830	HepG2	liver:	n/a	chr16:35044752-35044763
6	CTCF	chr16:35043960-35044110	HCT-116	colon:	n/a	n/a
7	CTCF	chr16:35043560-35043710	HEK293	kidney:	n/a	n/a
8	CTCF	chr16:35043520-35043670	HepG2	liver:	n/a	n/a
9	CTCF	chr16:35043176-35043209	LNCaP	prostate:	n/a	n/a
10	CTCF	chr16:35043540-35043690	GM12873	blood:	n/a	n/a
11	CTCF	chr16:35043460-35043610	HEK293	kidney:	n/a	n/a
12	CTCF	chr16:35043500-35043650	NB4	blood:	n/a	n/a
13	CTCF	chr16:35043560-35043710	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr16:35043520-35043670	GM12873	blood:	n/a	n/a
15	CTCF	chr16:35043420-35043570	RPTEC	kidney:	n/a	n/a
16	CTCF	chr16:35043602-35043629	Gliobla	brain:	n/a	n/a
17	CTCF	chr16:35038644-35038686	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr16:35043460-35043610	BE2_C	brain:	n/a	n/a
19	CTCF	chr16:35038916-35039001	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr16:35043520-35043670	HCT-116	colon:	n/a	n/a
21	CTCF	chr16:35043580-35043730	NHEK	skin:	n/a	n/a
22	CTCF	chr16:35043540-35043690	NHEK	skin:	n/a	n/a
23	CTCF	chr16:35043480-35043630	GM12869	blood:	n/a	n/a
24	CTCF	chr16:35043555-35043692	NHEK	skin:	n/a	n/a
25	CTCF	chr16:35038420-35038454	GM10248	blood:	n/a	n/a
26	CTCF	chr16:35043480-35043630	HCT-116	colon:	n/a	n/a
27	CTCF	chr16:35043542-35043593	LNCaP	prostate:	n/a	n/a
28	CTCF	chr16:35043560-35043710	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr16:35041106-35041151	GM10266	blood:	n/a	n/a
30	CTCF	chr16:35043520-35043670	K562	blood:	n/a	n/a
31	CTCF	chr16:35043520-35043670	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr16:35043500-35043650	HL-60	blood:	n/a	n/a
33	CTCF	chr16:35043520-35043670	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr16:35043500-35043650	RPTEC	kidney:	n/a	n/a
35	CTCF	chr16:35043592-35043620	LNCaP	prostate:	n/a	n/a
36	CTCF	chr16:35043552-35043630	HepG2	liver:	n/a	n/a
37	CTCF	chr16:35043540-35043690	BE2_C	brain:	n/a	n/a
38	CTCF	chr16:35043520-35043670	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr16:35043840-35043990	HCT-116	colon:	n/a	n/a
40	CTCF	chr16:35043631-35043636	HepG2	liver:	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	chr16:35043033-35043764	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
46	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
47	FOXA1	chr16:35032183-35032415	ECC-1	luminal epithelium:	n/a	n/a
48	FOXA1	chr16:35032147-35032493	T-47D	breast:	n/a	n/a
49	FOXA1	chr16:35032164-35032530	HepG2	liver:	n/a	n/a
50	FOXA1	chr16:35032168-35032519	HepG2	liver:	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	chr16:35030232-35030282	Caco-2	colon:	n/a
2	chr16:35027026-35027076	HRE	kidney:	n/a
3	chr16:35029997-35030047	HRE	kidney:	n/a
4	chr16:35026985-35027035	PrEC	prostate:	n/a
5	chr16:35027418-35027468	AG09309	skin:	n/a
6	chr16:35037569-35037619	AG09319	gingival:	n/a
7	chr16:35029997-35030047	HCF	heart:	n/a
8	chr16:35027418-35027468	Jurkat	blood:	n/a
9	chr16:35026985-35027035	HEEpiC	esophagus:	n/a
10	chr16:35026985-35027035	NHBE	bronchial:	n/a
11	chr16:35030232-35030282	Jurkat	blood:	n/a
12	chr16:35029890-35029940	GM12892	blood:	n/a
13	chr16:35029997-35030047	T-47D	breast:	n/a
14	chr16:35037569-35037619	ovcar-3	ovarian:	n/a
15	chr16:35037569-35037619	HAEpiC	amniotic membrane:	n/a
16	chr16:35026985-35027035	HL-60	blood:	n/a
17	chr16:35029997-35030047	HRPEpiC	eye:	n/a
18	chr16:35029890-35029940	NT2-D1	testis:	n/a
19	chr16:35026985-35027035	NH-A	brain:	n/a
20	chr16:35027418-35027468	PANC-1	pancreas:	n/a
21	chr16:35029997-35030047	AG04449	skin:	fetal
22	chr16:35030232-35030282	NH-A	brain:	n/a
23	chr16:35026985-35027035	Caco-2	colon:	n/a
24	chr16:35029997-35030047	A549	lung:	n/a
25	chr16:35027026-35027076	PANC-1	pancreas:	n/a
26	chr16:35027026-35027076	K562	blood:	n/a
27	chr16:35027418-35027468	HPAEpiC	pulmonary alveolar:	n/a
28	chr16:35029890-35029940	HIPEpiC	eye:	n/a
29	chr16:35027026-35027076	NHDF-neo	bronchial:	n/a
30	chr16:35026985-35027035	Hela-S3	cervix:	n/a
31	chr16:35029997-35030047	HUVEC	blood vessel:	n/a
32	chr16:35026985-35027035	HRE	kidney:	n/a
33	chr16:35027026-35027076	HL-60	blood:	n/a
34	chr16:35027026-35027076	IMR90	lung:	fetal
35	chr16:35027026-35027076	ovcar-3	ovarian:	n/a
36	chr16:35029890-35029940	HMEC	breast:	n/a
37	chr16:35030232-35030282	U87	brain:	n/a
38	chr16:35030232-35030282	SK-N-SH	brain:	n/a
39	chr16:35029997-35030047	SAEC	small airway:	n/a
40	chr16:35030232-35030282	HMEC	breast:	n/a
41	chr16:35026985-35027035	LNCaP	prostate:	n/a
42	chr16:35026985-35027035	Hepatocyte	liver:	n/a
43	chr16:35029997-35030047	SK-N-SH	brain:	n/a
44	chr16:35029890-35029940	MCF-7	breast:	n/a
45	chr16:35026985-35027035	SK-N-MC	brain:	n/a
46	chr16:35027418-35027468	ProgFib	skin:	n/a
47	chr16:35030232-35030282	GM19239	blood:	n/a
48	chr16:35026985-35027035	HCT-116	colon:	n/a
49	chr16:35026985-35027035	AG04449	skin:	fetal
50	chr16:35030232-35030282	LNCaP	prostate:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LINC00273-31	chr16:35036459-35037041	NONHSAT142244

No data

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

Extended variants
information (count: 784 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:784 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188189391	chr16:35021929-35021930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs537456221	chr16:35021971-35021972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549417809	chr16:35021979-35021980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181416287	chr16:35022004-35022005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550642359	chr16:35022012-35022013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536432647	chr16:35022013-35022014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555178957	chr16:35022026-35022027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs140143191	chr16:35022032-35022033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534476883	chr16:35022034-35022035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs559308201	chr16:35022045-35022046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs7187499	chr16:35022054-35022055	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544622194	chr16:35022069-35022070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs142024748	chr16:35022072-35022073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs375144211	chr16:35022121-35022122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs146344699	chr16:35022160-35022161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368225166	chr16:35022168-35022169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552117331	chr16:35022179-35022180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560326757	chr16:35022183-35022184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs139251331	chr16:35022194-35022195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185749866	chr16:35022199-35022200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs76974898	chr16:35022296-35022297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs371934744	chr16:35022314-35022315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201117107	chr16:35022327-35022328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190064765	chr16:35022384-35022385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs567797186	chr16:35022417-35022418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567025364	chr16:35022428-35022429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534130689	chr16:35022429-35022430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs373939313	chr16:35022442-35022443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs35356881	chr16:35022470-35022471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs145599875	chr16:35022500-35022501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs377687078	chr16:35022501-35022502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114948088	chr16:35022575-35022576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567196014	chr16:35022593-35022594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs534138843	chr16:35022612-35022613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559249404	chr16:35022627-35022628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs34535890	chr16:35022642-35022643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs571210093	chr16:35022661-35022662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538234102	chr16:35022662-35022663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs148487895	chr16:35022665-35022666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs537848553	chr16:35022687-35022688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs574819219	chr16:35022700-35022701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371751742	chr16:35022707-35022708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs556168734	chr16:35022714-35022715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553992726	chr16:35022737-35022738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572157745	chr16:35022754-35022755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs145312024	chr16:35022771-35022772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs527957040	chr16:35022789-35022790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs545659986	chr16:35022796-35022797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147610988	chr16:35022819-35022820	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs531532784	chr16:35022820-35022821	ZNF genes & repeats	TF binding region	1 gene(s)	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
Medulloblastoma	21163964	CNVD

Chromatin state (count:23 , 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

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