Variant report

Variant	nsv1040837
Chromosome Location	chr14:79583862-79711565
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	BRCA1	chr14:79668038-79668544	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr14:79694608-79694965	IMR90	lung:	n/a	chr14:79694792-79694803
3	CEBPB	chr14:79640876-79641125	IMR90	lung:	n/a	chr14:79640950-79640963 chr14:79640950-79640963
4	CEBPB	chr14:79667945-79668574	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr14:79634306-79634625	IMR90	lung:	n/a	n/a
6	CEBPB	chr14:79694616-79694957	A549	lung:	n/a	chr14:79694792-79694803
7	CEBPB	chr14:79605965-79606029	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:79694625-79694961	HepG2	liver:	n/a	chr14:79694792-79694803
9	CEBPB	chr14:79601619-79601724	IMR90	lung:	n/a	chr14:79601695-79601708
10	CEBPB	chr14:79692324-79692345	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr14:79694628-79694956	H1-hESC	embryonic stem cell:	n/a	chr14:79694792-79694803
12	CTCF	chr14:79671960-79672110	HMEC	breast:	n/a	n/a
13	CTCF	chr14:79699700-79699850	BE2_C	brain:	n/a	n/a
14	CTCF	chr14:79598444-79598545	GM13976	blood:	n/a	n/a
15	CTCF	chr14:79688368-79688438	GM10248	blood:	n/a	n/a
16	CTCF	chr14:79684740-79684890	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr14:79693784-79693816	Lung_OC	lung:	n/a	n/a
18	CTCF	chr14:79628020-79628170	GM12875	blood:	n/a	n/a
19	CTCF	chr14:79709918-79710011	Spleen_OC	spleen:	n/a	n/a
20	E2F4	chr14:79667243-79667741	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr14:79702664-79702878	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr14:79695768-79696077	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr14:79659853-79660627	SK-N-SH	brain:	n/a	chr14:79660064-79660078
24	EP300	chr14:79659844-79660691	SK-N-SH	brain:	n/a	chr14:79660064-79660078
25	EP300	chr14:79607504-79607901	SK-N-SH_RA	brain:	n/a	n/a
26	EP300	chr14:79632485-79632772	SK-N-SH_RA	brain:	n/a	chr14:79632687-79632696
27	EP300	chr14:79607564-79607965	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr14:79632482-79632783	SK-N-SH_RA	brain:	n/a	chr14:79632687-79632696
29	EP300	chr14:79611286-79611501	SK-N-SH_RA	brain:	n/a	n/a
30	FOS	chr14:79652683-79653279	HUVEC	blood vessel:	n/a	n/a
31	FOS	chr14:79632516-79632960	HUVEC	blood vessel:	n/a	chr14:79632749-79632758
32	FOS	chr14:79668054-79668541	Hela-S3	cervix:	n/a	n/a
33	FOS	chr14:79634379-79634579	MCF10A-Er-Src	breast:	n/a	chr14:79634505-79634515 chr14:79634505-79634515 chr14:79634505-79634515 chr14:79634505-79634515 chr14:79634504-79634516 chr14:79634506-79634514
34	FOS	chr14:79611355-79611512	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr14:79621609-79621812	MCF10A-Er-Src	breast:	n/a	chr14:79621722-79621729 chr14:79621721-79621729 chr14:79621720-79621729
36	FOS	chr14:79634480-79634563	MCF10A-Er-Src	breast:	n/a	chr14:79634505-79634515 chr14:79634505-79634515 chr14:79634505-79634515 chr14:79634505-79634515 chr14:79634504-79634516 chr14:79634506-79634514
37	FOS	chr14:79611391-79611576	MCF10A-Er-Src	breast:	n/a	n/a
38	FOSL2	chr14:79659930-79660547	SK-N-SH	brain:	n/a	n/a
39	FOXA1	chr14:79597975-79598155	T-47D	breast:	n/a	n/a
40	FOXA2	chr14:79597756-79598387	A549	lung:	n/a	n/a
41	FOXA2	chr14:79597803-79598330	A549	lung:	n/a	n/a
42	GATA2	chr14:79634305-79634640	HUVEC	blood vessel:	n/a	chr14:79634447-79634459 chr14:79634507-79634516 chr14:79634444-79634458 chr14:79634448-79634458 chr14:79634449-79634456
43	GATA2	chr14:79709532-79709841	SH-SY5Y	brain:	n/a	n/a
44	GATA2	chr14:79632280-79632933	HUVEC	blood vessel:	n/a	chr14:79632750-79632759
45	GATA2	chr14:79708562-79709235	SH-SY5Y	brain:	n/a	chr14:79709018-79709034 chr14:79708659-79708667
46	GATA3	chr14:79679180-79679320	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr14:79659747-79661021	SK-N-SH	brain:	n/a	chr14:79660703-79660710 chr14:79660513-79660522
48	GATA3	chr14:79650428-79651034	SK-N-SH	brain:	n/a	chr14:79650702-79650718
49	GATA3	chr14:79708878-79709087	SH-SY5Y	brain:	n/a	chr14:79709018-79709034
50	GATA3	chr14:79659750-79660869	SK-N-SH	brain:	n/a	chr14:79660703-79660710 chr14:79660513-79660522

No.	Distal block	Cell Line	Cell type
1	chr14:79633552..79635611-chr14:79637121..79639941,2	MCF-7	breast:
2	chr14:79633552..79635611-chr14:79637121..79639941,2	MCF-7	breast:
3	chr14:79704504..79705275-chr6:56819303..56820074,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADCK1-1	chr14:79666325-79666381	ENSG00000258419.1
2	lnc-ADCK1-1	chr14:79667377-79667975	ENSG00000258419.1

Variant related genes	Relation type
ENSG00000258419	TF binding region
ENSG00000151917	chromatin interactions
ENSG00000151914	chromatin interactions

Extended variants
information (count: 1952 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1952 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376835694	chr14:79583913-79583914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535060850	chr14:79583917-79583918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76613847	chr14:79583938-79583939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565679849	chr14:79583962-79583963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145426902	chr14:79583968-79583969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374025659	chr14:79583969-79583970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543465002	chr14:79584029-79584030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112906895	chr14:79584033-79584034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576265338	chr14:79584055-79584056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577479045	chr14:79584062-79584063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543500821	chr14:79584074-79584075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540158538	chr14:79584091-79584092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200120415	chr14:79584097-79584098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187224864	chr14:79584132-79584133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576391875	chr14:79584146-79584147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563188433	chr14:79584178-79584179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115954456	chr14:79584204-79584205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369802909	chr14:79584212-79584213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562113121	chr14:79584253-79584254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375861039	chr14:79584281-79584282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541114168	chr14:79584313-79584314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2620396	chr14:79584403-79584404	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373656227	chr14:79584411-79584412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191672852	chr14:79584430-79584431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528993342	chr14:79584432-79584433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147497765	chr14:79584477-79584478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367637053	chr14:79584508-79584509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550287782	chr14:79584551-79584552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550052244	chr14:79584591-79584592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559724826	chr14:79584615-79584616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563397348	chr14:79584619-79584620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74544215	chr14:79584636-79584637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548730066	chr14:79584675-79584676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147686242	chr14:79584722-79584723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560001809	chr14:79584761-79584762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116000129	chr14:79584768-79584769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551473065	chr14:79584841-79584842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142443862	chr14:79584843-79584844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539995575	chr14:79584907-79584908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556705558	chr14:79584909-79584910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375508756	chr14:79584917-79584918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368365024	chr14:79584927-79584928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150337497	chr14:79584938-79584939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536126554	chr14:79584939-79584940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555514977	chr14:79584972-79584973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2653539	chr14:79585015-79585016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116361191	chr14:79585027-79585028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541151225	chr14:79585030-79585031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73324748	chr14:79585042-79585043	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577425352	chr14:79585074-79585075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Basal cell lymphoma	17053054	CNVD
cataract	16735990	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79579200-79584200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:79580200-79584000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:79583800-79584000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:79584000-79584400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:79584000-79585200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:79584200-79584400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:79584200-79585200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:79584400-79585000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr14:79584400-79585000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:79584400-79590600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:79585000-79585200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:79585200-79589800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:79587200-79587600	Enhancers	HSMM	muscle
14	chr14:79590400-79590600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:79590600-79590800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:79599000-79599400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:79600400-79601600	Enhancers	Brain Anterior Caudate	brain
18	chr14:79600600-79601000	Enhancers	Brain Germinal Matrix	brain
19	chr14:79601000-79602800	Weak transcription	Brain Germinal Matrix	brain
20	chr14:79601600-79602600	Weak transcription	Brain Anterior Caudate	brain
21	chr14:79602400-79603600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:79602400-79603800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:79602400-79603800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:79602400-79603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:79602400-79603800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:79602600-79603000	Enhancers	Brain Cingulate Gyrus	brain
27	chr14:79602800-79603000	Enhancers	Brain Anterior Caudate	brain
28	chr14:79602800-79603200	Enhancers	Brain Germinal Matrix	brain
29	chr14:79602800-79603600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:79603000-79603400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:79603000-79603400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:79603000-79603400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:79604400-79604800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:79611000-79611800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:79618400-79618600	Bivalent Enhancer	Fetal Brain Male	brain
36	chr14:79632000-79633200	Enhancers	HUVEC	blood vessel
37	chr14:79641400-79641600	Enhancers	Fetal Brain Male	brain
38	chr14:79641800-79642000	Enhancers	Brain Cingulate Gyrus	brain
39	chr14:79642000-79642200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr14:79642000-79642400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:79642000-79642400	Active TSS	Brain Cingulate Gyrus	brain
42	chr14:79642000-79642400	Enhancers	Brain Substantia Nigra	brain
43	chr14:79642000-79642400	Active TSS	Colon Smooth Muscle	Colon
44	chr14:79642000-79642400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr14:79642000-79642400	Active TSS	Stomach Smooth Muscle	stomach
46	chr14:79642000-79642600	Enhancers	Fetal Brain Female	brain
47	chr14:79642200-79642400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr14:79642200-79642400	Enhancers	Brain Hippocampus Middle	brain
49	chr14:79642200-79642400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr14:79642200-79644200	Enhancers	Fetal Brain Male	brain

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