Variant report

Variant	nsv1367
Chromosome Location	chr14:79067521-79106387
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	ATF1	chr14:79093565-79093765	K562	blood:	n/a	n/a
2	ATF3	chr14:79078195-79078397	K562	blood:	n/a	n/a
3	CEBPB	chr14:79102304-79102631	HepG2	liver:	n/a	chr14:79102467-79102478
4	CEBPB	chr14:79081084-79081341	A549	lung:	n/a	chr14:79081182-79081195 chr14:79081183-79081194
5	CEBPB	chr14:79081086-79081339	HepG2	liver:	n/a	chr14:79081182-79081195 chr14:79081183-79081194
6	CEBPB	chr14:79078155-79078475	K562	blood:	n/a	chr14:79078315-79078326
7	CEBPB	chr14:79078166-79078500	HepG2	liver:	n/a	chr14:79078315-79078326
8	CEBPB	chr14:79081069-79081324	H1-hESC	embryonic stem cell:	n/a	chr14:79081182-79081195 chr14:79081183-79081194
9	CEBPB	chr14:79102305-79102598	A549	lung:	n/a	chr14:79102467-79102478
10	CEBPB	chr14:79081097-79081349	K562	blood:	n/a	chr14:79081182-79081195 chr14:79081183-79081194
11	CEBPB	chr14:79102320-79102642	IMR90	lung:	n/a	chr14:79102467-79102478
12	CEBPB	chr14:79078195-79078460	A549	lung:	n/a	chr14:79078315-79078326
13	CEBPB	chr14:79078218-79078378	K562	blood:	n/a	chr14:79078315-79078326
14	CEBPB	chr14:79078205-79078426	K562	blood:	n/a	chr14:79078315-79078326
15	CEBPB	chr14:79097868-79098184	HepG2	liver:	n/a	chr14:79098028-79098039 chr14:79098026-79098037 chr14:79098026-79098039
16	CEBPB	chr14:79078175-79078512	IMR90	lung:	n/a	chr14:79078315-79078326
17	CEBPB	chr14:79078138-79078596	Hela-S3	cervix:	n/a	chr14:79078315-79078326
18	CHD1	chr14:79105548-79105567	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:79072900-79073050	AG10803	skin:	n/a	n/a
20	CTCF	chr14:79072800-79072950	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr14:79072760-79072910	AoAF	blood vessel:	n/a	n/a
22	CUX1	chr14:79093606-79093712	K562	blood:	n/a	n/a
23	CUX1	chr14:79075510-79075552	GM12878	blood:	n/a	n/a
24	E2F4	chr14:79101962-79102401	MCF10A-Er-Src	breast:	n/a	n/a
25	EBF1	chr14:79071745-79071752	GM12878	blood:	n/a	n/a
26	EP300	chr14:79078057-79078498	K562	blood:	n/a	chr14:79078316-79078330 chr14:79078267-79078281
27	EP300	chr14:79078114-79078514	Hela-S3	cervix:	n/a	chr14:79078316-79078330 chr14:79078267-79078281
28	FAM48A	chr14:79079049-79079232	GM12878	blood:	n/a	n/a
29	FOS	chr14:79072193-79073137	HUVEC	blood vessel:	n/a	n/a
30	FOS	chr14:79072555-79072812	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr14:79072558-79072783	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr14:79072501-79072781	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr14:79078229-79078348	MCF10A-Er-Src	breast:	n/a	chr14:79078267-79078279
34	JUN	chr14:79078170-79078287	HepG2	liver:	n/a	chr14:79078267-79078279
35	JUN	chr14:79072476-79072837	HUVEC	blood vessel:	n/a	n/a
36	JUND	chr14:79081101-79081295	K562	blood:	n/a	n/a
37	JUND	chr14:79078174-79078506	K562	blood:	n/a	chr14:79078267-79078279
38	MAFK	chr14:79083136-79083245	HepG2	liver:	n/a	n/a
39	MAFK	chr14:79081221-79081316	K562	blood:	n/a	n/a
40	MAX	chr14:79080467-79080487	A549	lung:	n/a	n/a
41	MAX	chr14:79105335-79105718	H1-hESC	embryonic stem cell:	n/a	chr14:79105513-79105524 chr14:79105516-79105523 chr14:79105515-79105524 chr14:79105512-79105527
42	MXI1	chr14:79099956-79099965	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr14:79098264-79098383	MCF-7	breast:	n/a	n/a
44	MYC	chr14:79083590-79083723	K562	blood:	n/a	chr14:79083663-79083672
45	MYC	chr14:79075603-79075624	H1-hESC	embryonic stem cell:	n/a	n/a
46	NR2F2	chr14:79093487-79093735	K562	blood:	n/a	n/a
47	POLR2A	chr14:79104210-79104655	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr14:79097474-79097689	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr14:79084683-79085077	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr14:79077139-79077770	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:79079836-79079886	HL-60	blood:	n/a
2	chr14:79080416-79080466	GM19239	blood:	n/a
3	chr14:79079836-79079886	AoSMC	blood vessel:	n/a
4	chr14:79079836-79079886	NT2-D1	testis:	n/a
5	chr14:79079836-79079886	Hela-S3	cervix:	n/a
6	chr14:79079836-79079886	GM06990	blood:	n/a
7	chr14:79080416-79080466	H1-hESC	embryonic stem cell:	embryo
8	chr14:79079836-79079886	AG09319	gingival:	n/a
9	chr14:79079836-79079886	AG10803	skin:	n/a
10	chr14:79080416-79080466	SK-N-MC	brain:	n/a
11	chr14:79079836-79079886	Hepatocyte	liver:	n/a
12	chr14:79080416-79080466	GM12892	blood:	n/a
13	chr14:79080416-79080466	HPAEpiC	pulmonary alveolar:	n/a
14	chr14:79080416-79080466	NHDF-neo	bronchial:	n/a
15	chr14:79079836-79079886	GM12892	blood:	n/a
16	chr14:79079836-79079886	BJ	skin:	n/a
17	chr14:79079836-79079886	ProgFib	skin:	n/a
18	chr14:79079836-79079886	PrEC	prostate:	n/a
19	chr14:79080416-79080466	HCT-116	colon:	n/a
20	chr14:79080416-79080466	HUVEC	blood vessel:	n/a
21	chr14:79079836-79079886	BE2_C	brain:	n/a
22	chr14:79079836-79079886	GM19239	blood:	n/a
23	chr14:79080416-79080466	Jurkat	blood:	n/a
24	chr14:79079836-79079886	U87	brain:	n/a
25	chr14:79079836-79079886	HCPEpiC	choroid plexus:	n/a
26	chr14:79080416-79080466	CMK	blood:	n/a
27	chr14:79080416-79080466	HRE	kidney:	n/a
28	chr14:79080416-79080466	ProgFib	skin:	n/a
29	chr14:79080416-79080466	AG04450	lung:	fetal
30	chr14:79079836-79079886	HCF	heart:	n/a
31	chr14:79080416-79080466	AG09309	skin:	n/a
32	chr14:79079836-79079886	HCT-116	colon:	n/a
33	chr14:79080416-79080466	ECC-1	luminal epithelium:	n/a
34	chr14:79079836-79079886	AG04449	skin:	fetal
35	chr14:79079836-79079886	HMEC	breast:	n/a
36	chr14:79079836-79079886	HUVEC	blood vessel:	n/a
37	chr14:79080416-79080466	T-47D	breast:	n/a
38	chr14:79079836-79079886	PFSK-1	brain:	n/a
39	chr14:79080416-79080466	SK-N-SH	brain:	n/a
40	chr14:79079836-79079886	ECC-1	luminal epithelium:	n/a
41	chr14:79079836-79079886	HRE	kidney:	n/a
42	chr14:79079836-79079886	HEK293	kidney:	embryo
43	chr14:79079836-79079886	NH-A	brain:	n/a
44	chr14:79080416-79080466	HIPEpiC	eye:	n/a
45	chr14:79079836-79079886	Caco-2	colon:	n/a
46	chr14:79079836-79079886	AG04450	lung:	fetal
47	chr14:79080416-79080466	PFSK-1	brain:	n/a
48	chr14:79079836-79079886	MCF-7	breast:	n/a
49	chr14:79080416-79080466	Hela-S3	cervix:	n/a
50	chr14:79080416-79080466	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:79086501..79089213-chr14:79090551..79093027,2	K562	blood:
2	chr14:79086501..79089213-chr14:79090551..79093027,2	K562	blood:

Variant related genes	Relation type
NRXN3	TF binding region
ENSG00000221178	TF binding region
NRXN3	CpG island
ENSG00000221178	CpG island

Extended variants
information (count: 1400 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1400 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530254632	chr14:79067523-79067524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187844835	chr14:79067529-79067530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556769545	chr14:79067577-79067578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560425127	chr14:79067585-79067586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200942003	chr14:79067601-79067602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368303615	chr14:79067606-79067607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192361896	chr14:79067624-79067625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552149471	chr14:79067660-79067661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150202585	chr14:79067693-79067694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs33919299	chr14:79067801-79067802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538321819	chr14:79067859-79067860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138786648	chr14:79067881-79067882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113638658	chr14:79067896-79067897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184434097	chr14:79067915-79067916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149390329	chr14:79067945-79067946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539788517	chr14:79067953-79067954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10151370	chr14:79067999-79068000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187355619	chr14:79068020-79068021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541882437	chr14:79068036-79068037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561646981	chr14:79068049-79068050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377197069	chr14:79068077-79068078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574939602	chr14:79068081-79068082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117481887	chr14:79068086-79068087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112847941	chr14:79068133-79068134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60238041	chr14:79068206-79068207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192991534	chr14:79068224-79068225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112335200	chr14:79068294-79068295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184801444	chr14:79068309-79068310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562520084	chr14:79068395-79068396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557188588	chr14:79068470-79068471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111345822	chr14:79068545-79068546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142861402	chr14:79068578-79068579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370669288	chr14:79068610-79068611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60470553	chr14:79068631-79068632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374185719	chr14:79068632-79068633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61976088	chr14:79068634-79068635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548629379	chr14:79068759-79068760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147434802	chr14:79068769-79068770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148490633	chr14:79068819-79068820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542779342	chr14:79068848-79068849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558004839	chr14:79068873-79068874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74346137	chr14:79068930-79068931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142498885	chr14:79068959-79068960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75887921	chr14:79068994-79068995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556522146	chr14:79069020-79069021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569600581	chr14:79069066-79069067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535117536	chr14:79069068-79069069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76923938	chr14:79069069-79069070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150522120	chr14:79069118-79069119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139510671	chr14:79069137-79069138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79063400-79071800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:79064800-79069000	Weak transcription	Osteobl	bone
3	chr14:79065000-79068400	Weak transcription	NHDF-Ad	bronchial
4	chr14:79065000-79071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:79065000-79077400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:79065200-79068400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:79065400-79071200	Weak transcription	Fetal Brain Male	brain
8	chr14:79065600-79069400	Weak transcription	Brain Germinal Matrix	brain
9	chr14:79068400-79069400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:79068400-79074400	Enhancers	NHDF-Ad	bronchial
11	chr14:79068600-79069600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:79069000-79069400	Enhancers	Osteobl	bone
13	chr14:79069400-79069800	Enhancers	Brain Germinal Matrix	brain
14	chr14:79069400-79071000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:79069400-79071000	Weak transcription	Osteobl	bone
16	chr14:79069600-79072600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:79070800-79074400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:79071000-79071200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:79071000-79072800	Enhancers	Osteobl	bone
20	chr14:79071000-79074200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:79071200-79071800	Enhancers	Fetal Brain Male	brain
22	chr14:79071200-79072800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr14:79071200-79073000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:79071400-79072800	Enhancers	HUVEC	blood vessel
25	chr14:79071400-79073800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:79071400-79074000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr14:79071400-79074600	Enhancers	NHLF	lung
28	chr14:79071600-79071800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr14:79071800-79073200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:79071800-79077200	Weak transcription	Fetal Brain Male	brain
31	chr14:79072000-79073800	Enhancers	NH-A	brain
32	chr14:79072200-79072600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:79072200-79072800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr14:79072200-79073400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:79072400-79073200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:79072600-79072800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr14:79072600-79073200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:79072800-79073200	Flanking Active TSS	HUVEC	blood vessel
39	chr14:79072800-79073200	Flanking Active TSS	Osteobl	bone
40	chr14:79073000-79073800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:79073000-79074200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:79073200-79074000	Enhancers	HUVEC	blood vessel
43	chr14:79073200-79074000	Enhancers	Osteobl	bone
44	chr14:79073400-79078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:79073600-79074000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:79074200-79078400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:79074400-79078200	Weak transcription	NHDF-Ad	bronchial
48	chr14:79075000-79075200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:79075200-79075400	Enhancers	Brain Hippocampus Middle	brain
50	chr14:79075200-79075400	Enhancers	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links