Variant report

Variant	nsv84773
Chromosome Location	chr14:55804786-55807119
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	ATF2	chr14:55806392-55806963	GM12878	blood:	n/a	n/a
2	BCLAF1	chr14:55806406-55806901	GM12878	blood:	n/a	n/a
3	CEBPB	chr14:55806391-55806854	MCF-7	breast:	n/a	n/a
4	CHD2	chr14:55806510-55806834	GM12878	blood:	n/a	n/a
5	E2F4	chr14:55806525-55806693	MCF10A-Er-Src	breast:	n/a	n/a
6	EGR1	chr14:55806625-55806781	K562	blood:	n/a	chr14:55806706-55806721 chr14:55806693-55806707
7	EGR1	chr14:55806580-55806747	GM12878	blood:	n/a	chr14:55806706-55806721 chr14:55806693-55806707
8	EP300	chr14:55806534-55806841	GM12878	blood:	n/a	n/a
9	FOS	chr14:55806555-55806763	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr14:55806520-55806816	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr14:55805826-55806167	MCF10A-Er-Src	breast:	n/a	chr14:55806093-55806102 chr14:55806096-55806105 chr14:55806097-55806106 chr14:55806098-55806107
12	FOS	chr14:55806538-55806789	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr14:55806579-55806779	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr14:55805887-55805988	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr14:55805886-55805950	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXA2	chr14:55806557-55806783	HepG2	liver:	n/a	n/a
17	FOXM1	chr14:55806416-55806949	GM12878	blood:	n/a	n/a
18	GATA1	chr14:55804250-55805265	PBDE	blood:	n/a	n/a
19	MEF2A	chr14:55806445-55806927	GM12878	blood:	n/a	n/a
20	MEF2A	chr14:55806457-55806916	GM12878	blood:	n/a	n/a
21	MEF2C	chr14:55806372-55806981	GM12878	blood:	n/a	chr14:55806402-55806417
22	MTA3	chr14:55806362-55806969	GM12878	blood:	n/a	n/a
23	MYC	chr14:55806454-55806804	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr14:55806447-55806817	MCF10A-Er-Src	breast:	n/a	n/a
25	NFATC1	chr14:55806348-55806972	GM12878	blood:	n/a	n/a
26	NFIC	chr14:55806407-55806901	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:55806496-55806757	MCF10A-Er-Src	breast:	n/a	n/a
28	RUNX3	chr14:55806368-55806896	GM12878	blood:	n/a	n/a
29	RUNX3	chr14:55806391-55806900	GM12878	blood:	n/a	n/a
30	SP1	chr14:55806562-55806798	GM12878	blood:	n/a	chr14:55806695-55806704 chr14:55806694-55806708
31	STAT3	chr14:55805883-55806083	MCF10A-Er-Src	breast:	n/a	chr14:55806049-55806057
32	STAT3	chr14:55806587-55806778	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr14:55806588-55806815	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr14:55806576-55806648	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr14:55805886-55806079	MCF10A-Er-Src	breast:	n/a	chr14:55806049-55806057
36	STAT3	chr14:55806001-55806083	MCF10A-Er-Src	breast:	n/a	chr14:55806049-55806057
37	STAT3	chr14:55806588-55806760	MCF10A-Er-Src	breast:	n/a	n/a
38	TBL1XR1	chr14:55806552-55806880	GM12878	blood:	n/a	n/a
39	ZNF384	chr14:55804672-55804809	K562	blood:	n/a	n/a
40	ZNF384	chr14:55807018-55807189	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55736427..55740242-chr14:55801434..55807681,7	MCF-7	breast:
2	chr14:55738126..55740346-chr14:55806571..55808200,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATG14-1	chr14:55806153-55806219	ENSG00000258455.1

Variant related genes	Relation type
ENSG00000258455	TF binding region
ENSG00000258413	chromatin interactions
ENSG00000178974	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559167209	chr14:55804788-55804789	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555484154	chr14:55804798-55804799	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184688747	chr14:55804806-55804807	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28629288	chr14:55804812-55804813	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145982841	chr14:55804817-55804818	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569866005	chr14:55804830-55804831	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs9652341	chr14:55804839-55804840	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551887288	chr14:55804846-55804847	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566768315	chr14:55804861-55804862	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189574303	chr14:55804862-55804863	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11621089	chr14:55804914-55804915	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs180831359	chr14:55804917-55804918	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs575121309	chr14:55804924-55804925	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs145469417	chr14:55804952-55804953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557607055	chr14:55804958-55804959	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575853088	chr14:55804966-55804967	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148474508	chr14:55804976-55804977	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs142720550	chr14:55805014-55805015	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs572994974	chr14:55805058-55805059	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs115313541	chr14:55805068-55805069	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559105283	chr14:55805094-55805095	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529862292	chr14:55805131-55805132	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541679306	chr14:55805145-55805146	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542711034	chr14:55805191-55805192	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368508997	chr14:55805210-55805211	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs184851655	chr14:55805221-55805222	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530723165	chr14:55805229-55805230	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540130904	chr14:55805251-55805252	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552193041	chr14:55805262-55805263	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs150980073	chr14:55805332-55805333	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs189177648	chr14:55805365-55805366	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs142211824	chr14:55805422-55805423	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181568184	chr14:55805431-55805432	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536000468	chr14:55805486-55805487	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147061959	chr14:55805497-55805498	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201255247	chr14:55805513-55805514	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs569527289	chr14:55805514-55805515	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186828186	chr14:55805540-55805541	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs557706258	chr14:55805555-55805556	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572932869	chr14:55805570-55805571	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs56270323	chr14:55805578-55805579	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs191506773	chr14:55805610-55805611	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142942053	chr14:55805629-55805630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs147946804	chr14:55805633-55805634	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373874278	chr14:55805637-55805638	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577263002	chr14:55805639-55805640	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs59912336	chr14:55805640-55805641	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs59724890	chr14:55805643-55805644	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541966227	chr14:55805644-55805645	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563376964	chr14:55805645-55805646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
2	chr14:55780200-55807800	Weak transcription	Thymus	Thymus
3	chr14:55780600-55806200	Weak transcription	HMEC	breast
4	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:55782000-55817200	Weak transcription	HSMM	muscle
6	chr14:55787200-55806600	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:55790400-55806800	Weak transcription	Aorta	Aorta
8	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:55793000-55808600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55794000-55811800	Weak transcription	Brain Anterior Caudate	brain
11	chr14:55795000-55806600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:55797800-55807800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:55798200-55817200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:55800000-55805000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:55800000-55806600	Weak transcription	Brain Angular Gyrus	brain
16	chr14:55800000-55806600	Weak transcription	Left Ventricle	heart
17	chr14:55800000-55806800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr14:55800000-55817200	Weak transcription	Dnd41	blood
19	chr14:55800200-55805400	Enhancers	Stomach Mucosa	stomach
20	chr14:55800600-55816200	Weak transcription	Primary B cells from cord blood	blood
21	chr14:55800600-55823600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:55801000-55806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:55801000-55806400	Weak transcription	Fetal Heart	heart
24	chr14:55801000-55806800	Weak transcription	HSMMtube	muscle
25	chr14:55801000-55807800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:55801000-55808400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr14:55801000-55808600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:55801000-55817200	Weak transcription	HepG2	liver
29	chr14:55801200-55805800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr14:55801200-55806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:55801200-55806600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:55801200-55817200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:55801200-55817200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:55801200-55817200	Weak transcription	Liver	Liver
35	chr14:55801200-55817200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
37	chr14:55801400-55806200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:55801400-55806800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:55801400-55817400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:55801400-55817400	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:55801600-55806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:55801600-55806600	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:55801600-55806600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:55801600-55807000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr14:55801600-55807200	Enhancers	Primary T cells from cord blood	blood
46	chr14:55801600-55817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:55801800-55805000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:55801800-55805800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:55801800-55806400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:55801800-55806400	Weak transcription	Right Ventricle	heart

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