Variant report

Variant	nsv1039967
Chromosome Location	chr14:46406358-46438901
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	chr14:46409506-46409974	MCF-7	breast:	n/a	n/a
2	CTCF	chr14:46409740-46409890	RPTEC	kidney:	n/a	n/a
3	CTCF	chr14:46409440-46409590	MCF-7	breast:	n/a	n/a
4	CTCF	chr14:46409900-46410050	GM06990	blood:	n/a	n/a
5	CTCF	chr14:46409660-46409910	NHDF-neo	bronchial:	n/a	n/a
6	CTCF	chr14:46409708-46409768	GM13977	blood:	n/a	n/a
7	CTCF	chr14:46409600-46409750	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr14:46409700-46409850	HMEC	breast:	n/a	n/a
9	CTCF	chr14:46407820-46407856	GM20000	blood:	n/a	n/a
10	CTCF	chr14:46409620-46409770	GM12873	blood:	n/a	n/a
11	CTCF	chr14:46409548-46409913	GM12878	blood:	n/a	n/a
12	CTCF	chr14:46409714-46409755	GM10248	blood:	n/a	n/a
13	CTCF	chr14:46409667-46409774	GM12878	blood:	n/a	n/a
14	CTCF	chr14:46409620-46409770	BE2_C	brain:	n/a	n/a
15	CTCF	chr14:46409660-46409810	HMEC	breast:	n/a	n/a
16	CTCF	chr14:46409769-46409786	GM13977	blood:	n/a	n/a
17	CTCF	chr14:46409488-46409958	MCF-7	breast:	n/a	n/a
18	E2F4	chr14:46433427-46433661	MCF10A-Er-Src	breast:	n/a	chr14:46433462-46433471
19	E2F4	chr14:46438030-46438266	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr14:46419912-46420082	MCF10A-Er-Src	breast:	n/a	chr14:46419943-46419952 chr14:46419944-46419953
21	FOS	chr14:46419850-46420093	MCF10A-Er-Src	breast:	n/a	chr14:46419943-46419952 chr14:46419944-46419953
22	FOS	chr14:46413966-46414175	MCF10A-Er-Src	breast:	n/a	chr14:46414122-46414130 chr14:46414123-46414130 chr14:46414122-46414131
23	FOS	chr14:46433093-46433437	MCF10A-Er-Src	breast:	n/a	chr14:46433258-46433267 chr14:46433243-46433253 chr14:46433243-46433253 chr14:46433258-46433268 chr14:46433243-46433252 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433257-46433269
24	FOS	chr14:46433117-46433434	MCF10A-Er-Src	breast:	n/a	chr14:46433258-46433267 chr14:46433243-46433253 chr14:46433243-46433253 chr14:46433258-46433268 chr14:46433243-46433252 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433257-46433269
25	FOS	chr14:46419881-46419960	MCF10A-Er-Src	breast:	n/a	chr14:46419943-46419952 chr14:46419944-46419953
26	FOS	chr14:46433096-46433402	MCF10A-Er-Src	breast:	n/a	chr14:46433258-46433267 chr14:46433243-46433253 chr14:46433243-46433253 chr14:46433258-46433268 chr14:46433243-46433252 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433257-46433269
27	FOS	chr14:46433089-46433415	MCF10A-Er-Src	breast:	n/a	chr14:46433258-46433267 chr14:46433243-46433253 chr14:46433243-46433253 chr14:46433258-46433268 chr14:46433243-46433252 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433257-46433269
28	FOXA1	chr14:46434173-46434519	T-47D	breast:	n/a	n/a
29	FOXA1	chr14:46434236-46434603	T-47D	breast:	n/a	n/a
30	GATA3	chr14:46434166-46434522	T-47D	breast:	n/a	n/a
31	GATA3	chr14:46434161-46434654	T-47D	breast:	n/a	n/a
32	JUN	chr14:46433135-46433276	HepG2	liver:	n/a	chr14:46433258-46433267 chr14:46433243-46433253 chr14:46433243-46433253 chr14:46433258-46433268 chr14:46433243-46433252 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433257-46433269
33	JUN	chr14:46420945-46420968	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr14:46433122-46433392	HepG2	liver:	n/a	chr14:46433242-46433253 chr14:46433258-46433267 chr14:46433243-46433253 chr14:46433243-46433253 chr14:46433258-46433268 chr14:46433243-46433252 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433258-46433268 chr14:46433257-46433268 chr14:46433257-46433269
35	MAFK	chr14:46418136-46418189	HepG2	liver:	n/a	n/a
36	MAZ	chr14:46437277-46437286	HepG2	liver:	n/a	n/a
37	POLR2A	chr14:46436222-46436367	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr14:46416784-46417520	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr14:46407756-46407917	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr14:46423967-46424079	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr14:46430096-46430289	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr14:46429317-46429491	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr14:46417447-46417573	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr14:46414889-46415042	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr14:46408743-46409221	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr14:46432184-46432252	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr14:46438476-46438536	ProgFib	skin:	n/a	n/a
48	POLR2A	chr14:46408793-46409201	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr14:46437154-46437180	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr14:46407023-46407109	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:46308036..46308555-chr14:46409283..46409960,2	MCF-7	breast:
2	chr12:122908054..122908892-chr14:46408991..46409734,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-6	chr14:46410146-46410221	ENSG00000258700

Variant related genes	Relation type
LINC00871	TF binding region

Extended variants
information (count: 172 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs138178498	chr14:46407024-46407025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575414919	chr14:46407050-46407051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs542329383	chr14:46407072-46407073	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537004380	chr14:46407084-46407085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs557674704	chr14:46407100-46407101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571157741	chr14:46407101-46407102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1957171	chr14:46407106-46407107	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533750047	chr14:46407107-46407108	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs541590725	chr14:46407109-46407110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs554394041	chr14:46407486-46407487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553587517	chr14:46407515-46407516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs181621791	chr14:46407549-46407550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs541301189	chr14:46407618-46407619	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs17116757	chr14:46407622-46407623	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577922599	chr14:46407624-46407625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs545271153	chr14:46407635-46407636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs535950164	chr14:46407769-46407770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs11622339	chr14:46407777-46407778	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs546487413	chr14:46407839-46407840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs149282323	chr14:46407856-46407857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs11622417	chr14:46407870-46407871	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550927519	chr14:46407888-46407889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569149821	chr14:46407894-46407895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535914082	chr14:46407905-46407906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs554538204	chr14:46407906-46407907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs186048928	chr14:46407908-46407909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs544426185	chr14:46408746-46408747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs34934724	chr14:46408756-46408757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs182108329	chr14:46408760-46408761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528271852	chr14:46408769-46408770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs562032467	chr14:46408773-46408774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs550048886	chr14:46408775-46408776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs560175401	chr14:46408841-46408842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs73250125	chr14:46408890-46408891	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375874035	chr14:46408921-46408922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs551755557	chr14:46408972-46408973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs76911174	chr14:46408998-46408999	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569945973	chr14:46409078-46409079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs535784124	chr14:46409160-46409161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs187800621	chr14:46409169-46409170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs569406190	chr14:46409191-46409192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs190859981	chr14:46409195-46409196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs555271070	chr14:46409203-46409204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs140162429	chr14:46409207-46409208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs192779100	chr14:46409471-46409472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs142406646	chr14:46409482-46409483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs17654482	chr14:46409493-46409494	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183342406	chr14:46409503-46409504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs374080717	chr14:46409515-46409516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs571513019	chr14:46409545-46409546	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46415200-46416800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:46421000-46421600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:46433200-46433600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links