Variant report

Variant	esv3381198
Chromosome Location	chr14:85690248-85709087
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	chr14:85707452-85707711	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr14:85705032-85705053	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr14:85698009-85698083	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr14:85692760-85692910	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr14:85690300-85690450	Caco-2	colon:	n/a	n/a
6	CTCF	chr14:85701150-85701199	NHEK	skin:	n/a	n/a
7	E2F4	chr14:85700144-85700807	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F6	chr14:85700005-85700566	A549	lung:	n/a	n/a
9	EP300	chr14:85707358-85707666	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr14:85707178-85707888	ECC-1	luminal epithelium:	n/a	n/a
11	EP300	chr14:85707171-85708121	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr14:85707430-85707723	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr14:85700318-85700811	Hela-S3	cervix:	n/a	n/a
14	ESR1	chr14:85707363-85707744	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr14:85707322-85707829	ECC-1	luminal epithelium:	n/a	n/a
16	FOS	chr14:85695378-85695578	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr14:85700027-85701303	MCF10A-Er-Src	breast:	n/a	chr14:85700205-85700216
18	FOS	chr14:85700024-85701392	MCF10A-Er-Src	breast:	n/a	chr14:85700205-85700216
19	FOS	chr14:85700041-85701338	MCF10A-Er-Src	breast:	n/a	chr14:85700205-85700216
20	FOS	chr14:85695413-85695591	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr14:85706387-85706522	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr14:85700023-85701384	MCF10A-Er-Src	breast:	n/a	chr14:85700205-85700216
23	FOS	chr14:85699988-85701322	HUVEC	blood vessel:	n/a	chr14:85700205-85700216
24	FOSL2	chr14:85700010-85700344	A549	lung:	n/a	n/a
25	FOSL2	chr14:85700117-85700975	SK-N-SH	brain:	n/a	n/a
26	FOSL2	chr14:85700004-85700875	A549	lung:	n/a	n/a
27	FOXA1	chr14:85702311-85702891	A549	lung:	n/a	chr14:85702517-85702529
28	FOXA1	chr14:85707311-85707661	ECC-1	luminal epithelium:	n/a	n/a
29	FOXM1	chr14:85707152-85708063	ECC-1	luminal epithelium:	n/a	n/a
30	GATA3	chr14:85700348-85700918	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr14:85695199-85695726	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr14:85695189-85695717	SK-N-SH	brain:	n/a	n/a
33	GTF2F1	chr14:85701078-85701079	Hela-S3	cervix:	n/a	n/a
34	GTF3C2	chr14:85699957-85700306	Hela-S3	cervix:	n/a	n/a
35	IRF3	chr14:85692911-85692915	GM12878	blood:	n/a	n/a
36	JUN	chr14:85700058-85700858	Hela-S3	cervix:	n/a	n/a
37	JUN	chr14:85700075-85700688	HUVEC	blood vessel:	n/a	n/a
38	JUND	chr14:85699888-85701197	SK-N-SH	brain:	n/a	chr14:85700205-85700216
39	JUND	chr14:85700145-85700277	HepG2	liver:	n/a	chr14:85700205-85700216
40	JUND	chr14:85700042-85700896	Hela-S3	cervix:	n/a	chr14:85700205-85700216
41	JUND	chr14:85699958-85700384	A549	lung:	n/a	chr14:85700205-85700216
42	KAP1	chr14:85699843-85700514	U2OS	brain:	n/a	n/a
43	KAP1	chr14:85694530-85694896	K562	blood:	n/a	n/a
44	KAP1	chr14:85700067-85700971	HEK293	kidney:	n/a	n/a
45	MAFK	chr14:85700582-85700925	Hela-S3	cervix:	n/a	n/a
46	MAFK	chr14:85695944-85696081	HepG2	liver:	n/a	n/a
47	MAFK	chr14:85700671-85700871	HepG2	liver:	n/a	n/a
48	MAFK	chr14:85700505-85700915	IMR90	lung:	n/a	n/a
49	MAX	chr14:85707382-85707618	Hela-S3	cervix:	n/a	n/a
50	MAX	chr14:85707273-85707715	ECC-1	luminal epithelium:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GALC-10	chr14:85701133-85701270	ENSG00000259044
2	lnc-GALC-10	chr14:85705748-85705818	ENSG00000259044

Variant related genes	Relation type
ENSG00000259044	TF binding region

Extended variants
information (count: 738 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115671457	chr14:85690297-85690298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573862120	chr14:85690301-85690302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137858078	chr14:85690330-85690331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563255327	chr14:85690354-85690355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67848924	chr14:85690362-85690363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542246376	chr14:85690387-85690388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555596845	chr14:85690390-85690391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75540270	chr14:85690438-85690439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528654165	chr14:85690516-85690517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558380859	chr14:85690539-85690540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149456797	chr14:85690541-85690542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375581943	chr14:85690561-85690562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56749278	chr14:85690572-85690573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181256140	chr14:85690580-85690581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185619142	chr14:85690581-85690582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568896716	chr14:85690589-85690590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112833549	chr14:85690628-85690629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551434220	chr14:85690635-85690636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566867633	chr14:85690646-85690647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546684169	chr14:85690658-85690659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566094156	chr14:85690666-85690667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555274748	chr14:85690695-85690696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190954832	chr14:85690717-85690718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533589650	chr14:85690726-85690727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556528760	chr14:85690752-85690753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12889250	chr14:85690760-85690761	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1767400	chr14:85690768-85690769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs57352951	chr14:85690785-85690786	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572052475	chr14:85690795-85690796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542756433	chr14:85690797-85690798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182766148	chr14:85690818-85690819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141005213	chr14:85690873-85690874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544481823	chr14:85690875-85690876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371314611	chr14:85690895-85690896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371782006	chr14:85690994-85690995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371471561	chr14:85691023-85691024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144852060	chr14:85691031-85691032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116726490	chr14:85691039-85691040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566908687	chr14:85691049-85691050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374818843	chr14:85691051-85691052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369786641	chr14:85691061-85691062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187213860	chr14:85691065-85691066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567331433	chr14:85691092-85691093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538063588	chr14:85691134-85691135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147501658	chr14:85691143-85691144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571578503	chr14:85691182-85691183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538594001	chr14:85691225-85691226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375854856	chr14:85691471-85691472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369158204	chr14:85691488-85691489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191969204	chr14:85691517-85691518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	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
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85687200-85690800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr14:85687800-85690800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:85687800-85691000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:85688000-85691000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:85688000-85691200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:85688200-85690800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:85688400-85691400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:85689800-85690400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:85690000-85690800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:85690000-85691000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:85690200-85690600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr14:85690200-85690800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr14:85690200-85691200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:85690200-85691200	Enhancers	Fetal Lung	lung
15	chr14:85690600-85690800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:85690600-85691000	Enhancers	Fetal Stomach	stomach
17	chr14:85690800-85691200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr14:85690800-85700400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:85691200-85692400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:85691200-85696600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:85692600-85692800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr14:85692600-85693600	Enhancers	Fetal Kidney	kidney
23	chr14:85693400-85693600	Enhancers	Fetal Lung	lung
24	chr14:85695200-85695800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:85695200-85695800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:85695800-85700200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:85695800-85707200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:85696800-85700200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:85699600-85699800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:85699800-85700400	Enhancers	HMEC	breast
31	chr14:85699800-85700400	Enhancers	NHEK	skin
32	chr14:85699800-85700600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:85699800-85702600	Enhancers	HUVEC	blood vessel
34	chr14:85700200-85700600	Active TSS	A549	lung
35	chr14:85700200-85701000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:85700200-85701200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr14:85700200-85701200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:85700200-85701200	Enhancers	NH-A	brain
39	chr14:85700200-85701400	Enhancers	Osteobl	bone
40	chr14:85700200-85701600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:85700400-85700600	Flanking Active TSS	HMEC	breast
42	chr14:85700400-85701200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr14:85700400-85701200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr14:85700400-85701200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:85700400-85701200	Enhancers	Hela-S3	cervix
46	chr14:85700400-85701200	Enhancers	HSMM	muscle
47	chr14:85700400-85701400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr14:85700400-85701400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:85700400-85701400	Flanking Active TSS	NHEK	skin
50	chr14:85700600-85700800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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