Variant report

Variant	nsv519022
Chromosome Location	chr14:56381207-56382729
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	NR3C1	chr14:56382183-56382545	A549	lung:	n/a	chr14:56382440-56382466 chr14:56382443-56382452 chr14:56382446-56382460 chr14:56382445-56382461
2	POLR2A	chr14:56382313-56382373	MCF10A-Er-Src	breast:	n/a	n/a
3	REST	chr14:56381640-56381793	Hela-S3	cervix:	n/a	n/a
4	REST	chr14:56382226-56382457	PFSK-1	brain:	n/a	chr14:56382344-56382353
5	REST	chr14:56382221-56382519	ECC-1	luminal epithelium:	n/a	chr14:56382344-56382353
6	REST	chr14:56382232-56382466	PFSK-1	brain:	n/a	chr14:56382344-56382353
7	STAT3	chr14:56382493-56382572	MCF10A-Er-Src	breast:	n/a	n/a
8	WRNIP1	chr14:56382687-56382742	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PELI2-5	chr14:56382445-56383044	ENSG00000259868.1
2	lnc-PELI2-5	chr14:56382445-56383047	NONHSAT037033

Variant related genes	Relation type
ENSG00000259868	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12434440	chr14:56381207-56381208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141219270	chr14:56381254-56381255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200114928	chr14:56381256-56381257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12590849	chr14:56381302-56381303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs188404108	chr14:56381342-56381343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs36000754	chr14:56381358-56381359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550766140	chr14:56381379-56381380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140749806	chr14:56381398-56381399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1952883	chr14:56381399-56381400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145748969	chr14:56381403-56381404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371972298	chr14:56381460-56381461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544869031	chr14:56381482-56381483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556360607	chr14:56381487-56381488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578073705	chr14:56381504-56381505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545041168	chr14:56381541-56381542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200847179	chr14:56381574-56381575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs207474865	chr14:56381619-56381620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7492345	chr14:56381625-56381626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7492346	chr14:56381628-56381629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377130206	chr14:56381699-56381700	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs138941795	chr14:56381701-56381702	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540145663	chr14:56381721-56381722	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs561688083	chr14:56381786-56381787	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs368250960	chr14:56381826-56381827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184331225	chr14:56381827-56381828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142861307	chr14:56381876-56381877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567865353	chr14:56381881-56381882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78609084	chr14:56381945-56381946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187129368	chr14:56382001-56382002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76161791	chr14:56382025-56382026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543716177	chr14:56382041-56382042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377240092	chr14:56382047-56382048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533813932	chr14:56382063-56382064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566077178	chr14:56382075-56382076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146983875	chr14:56382076-56382077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141494938	chr14:56382079-56382080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201292038	chr14:56382098-56382099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567989940	chr14:56382109-56382110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7144669	chr14:56382117-56382118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs191570146	chr14:56382157-56382158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548886814	chr14:56382160-56382161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568754457	chr14:56382163-56382164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7144818	chr14:56382171-56382172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553838869	chr14:56382201-56382202	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552445771	chr14:56382211-56382212	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370035648	chr14:56382243-56382244	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs184230528	chr14:56382266-56382267	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs537223244	chr14:56382306-56382307	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs149507340	chr14:56382392-56382393	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs144757785	chr14:56382427-56382428	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Medulloblastoma	21163964	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56371600-56381600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:56373200-56392000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:56377600-56382400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:56378000-56381600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:56378000-56382200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:56379200-56381600	Enhancers	Osteobl	bone
7	chr14:56380000-56381800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:56380400-56381400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:56380400-56382200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:56380600-56381600	Enhancers	Stomach Smooth Muscle	stomach
11	chr14:56380600-56382000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:56380800-56394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:56381000-56381600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:56381200-56382000	Weak transcription	Right Atrium	heart
15	chr14:56381200-56382200	Enhancers	NH-A	brain
16	chr14:56381200-56382400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:56381200-56382400	Weak transcription	Brain Substantia Nigra	brain
18	chr14:56381400-56381800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:56381600-56382400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:56381600-56382600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:56381600-56382600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:56381800-56382800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:56382000-56382200	Enhancers	Right Atrium	heart
24	chr14:56382200-56382600	Enhancers	Brain Anterior Caudate	brain
25	chr14:56382200-56383000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:56382200-56385200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:56382400-56382800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:56382600-56382800	Enhancers	Brain Substantia Nigra	brain

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