Variant report

Variant	nsv977089
Chromosome Location	chr16:35039150-35097927
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	CEBPB	chr16:35047591-35047687	A549	lung:	n/a	chr16:35047601-35047612
2	CEBPB	chr16:35087390-35087614	HepG2	liver:	n/a	n/a
3	CEBPB	chr16:35044630-35044830	HepG2	liver:	n/a	chr16:35044752-35044763
4	CEBPB	chr16:35044480-35044659	IMR90	lung:	n/a	n/a
5	CEBPB	chr16:35044569-35044729	K562	blood:	n/a	n/a
6	CEBPB	chr16:35047511-35047736	HepG2	liver:	n/a	chr16:35047601-35047612
7	CTCF	chr16:35043460-35043610	HEK293	kidney:	n/a	n/a
8	CTCF	chr16:35043500-35043650	HL-60	blood:	n/a	n/a
9	CTCF	chr16:35043480-35043630	HCT-116	colon:	n/a	n/a
10	CTCF	chr16:35043500-35043650	RPTEC	kidney:	n/a	n/a
11	CTCF	chr16:35043602-35043629	Gliobla	brain:	n/a	n/a
12	CTCF	chr16:35043520-35043670	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr16:35043631-35043636	HepG2	liver:	n/a	n/a
14	CTCF	chr16:35043480-35043630	GM12869	blood:	n/a	n/a
15	CTCF	chr16:35043560-35043710	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr16:35041106-35041151	GM10266	blood:	n/a	n/a
17	CTCF	chr16:35043580-35043730	NHEK	skin:	n/a	n/a
18	CTCF	chr16:35043552-35043630	HepG2	liver:	n/a	n/a
19	CTCF	chr16:35043555-35043692	NHEK	skin:	n/a	n/a
20	CTCF	chr16:35043520-35043670	HepG2	liver:	n/a	n/a
21	CTCF	chr16:35043176-35043209	LNCaP	prostate:	n/a	n/a
22	CTCF	chr16:35043560-35043710	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr16:35043960-35044110	HCT-116	colon:	n/a	n/a
24	CTCF	chr16:35043520-35043670	K562	blood:	n/a	n/a
25	CTCF	chr16:35043540-35043690	BE2_C	brain:	n/a	n/a
26	CTCF	chr16:35043542-35043593	LNCaP	prostate:	n/a	n/a
27	CTCF	chr16:35043540-35043690	GM12873	blood:	n/a	n/a
28	CTCF	chr16:35043540-35043690	NHEK	skin:	n/a	n/a
29	CTCF	chr16:35043592-35043620	LNCaP	prostate:	n/a	n/a
30	CTCF	chr16:35043840-35043990	HCT-116	colon:	n/a	n/a
31	CTCF	chr16:35071360-35071510	GM12874	blood:	n/a	n/a
32	CTCF	chr16:35043520-35043670	GM12873	blood:	n/a	n/a
33	CTCF	chr16:35043560-35043710	HEK293	kidney:	n/a	n/a
34	CTCF	chr16:35043500-35043650	NB4	blood:	n/a	n/a
35	CTCF	chr16:35043520-35043670	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr16:35043420-35043570	RPTEC	kidney:	n/a	n/a
37	CTCF	chr16:35043520-35043670	HCT-116	colon:	n/a	n/a
38	CTCF	chr16:35043460-35043610	BE2_C	brain:	n/a	n/a
39	CTCF	chr16:35043520-35043670	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr16:35092596-35092636	Kidney_OC	kidney:	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	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
44	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
45	GTF2F1	chr16:35051103-35051137	K562	blood:	n/a	n/a
46	JUND	chr16:35093865-35094109	HepG2	liver:	n/a	n/a
47	JUND	chr16:35043113-35043744	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
48	KAP1	chr16:35043201-35043698	U2OS	brain:	n/a	chr16:35043360-35043369
49	MAFF	chr16:35057750-35058046	HepG2	liver:	n/a	chr16:35057912-35057930
50	MAFF	chr16:35057785-35057972	K562	blood:	n/a	chr16:35057912-35057930

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2144E22.5.1-35	chr16:35071257-35072103	NONHSAT142246

Variant related genes	Relation type
HMGN2P41	TF binding region
VN1R70P	TF binding region

Extended variants
information (count: 386 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56176836	chr16:35039175-35039176	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564090167	chr16:35039187-35039188	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185741690	chr16:35039205-35039206	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549851771	chr16:35039246-35039247	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567804195	chr16:35039296-35039297	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs113615005	chr16:35039369-35039370	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529065165	chr16:35039371-35039372	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs547536146	chr16:35039389-35039390	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570401720	chr16:35039422-35039423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs534328066	chr16:35039434-35039435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs565761318	chr16:35039456-35039457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551699816	chr16:35040317-35040318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs569995155	chr16:35040349-35040350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs144923833	chr16:35040354-35040355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111976259	chr16:35040374-35040375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs567290126	chr16:35040425-35040426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs17052041	chr16:35040447-35040448	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115456980	chr16:35040486-35040487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs566253365	chr16:35040519-35040520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs539690722	chr16:35040565-35040566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs368886613	chr16:35040577-35040578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs116005548	chr16:35040596-35040597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs576294752	chr16:35040604-35040605	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs543729081	chr16:35040625-35040626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs369904411	chr16:35040629-35040630	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs138666833	chr16:35040645-35040646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573960324	chr16:35040652-35040653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs541509045	chr16:35040665-35040666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs188040056	chr16:35040692-35040693	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs542871812	chr16:35042328-35042329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs72814863	chr16:35042372-35042373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528084008	chr16:35042378-35042379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs575051879	chr16:35044641-35044642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539655444	chr16:35044651-35044652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs116070356	chr16:35044681-35044682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs564205312	chr16:35044688-35044689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528202356	chr16:35044719-35044720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540219735	chr16:35044728-35044729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560499625	chr16:35044731-35044732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs536185655	chr16:35045026-35045027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs565668629	chr16:35045085-35045086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372192526	chr16:35045086-35045087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557871435	chr16:35045087-35045088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs569735476	chr16:35045133-35045134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs531905385	chr16:35045182-35045183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs13337557	chr16:35045190-35045191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs140206147	chr16:35045196-35045197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556672676	chr16:35045240-35045241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs571733951	chr16:35045251-35045252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574945523	chr16:35045255-35045256	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35036200-35039200	Weak transcription	Dnd41	blood
2	chr16:35039200-35039400	Enhancers	Dnd41	blood
3	chr16:35044600-35044800	ZNF genes & repeats	Fetal Brain Female	brain
4	chr16:35045000-35046800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:35067800-35068400	Enhancers	Dnd41	blood
6	chr16:35069200-35073000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr16:35070800-35072200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:35078200-35079800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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