Variant report

Variant	nsv564952
Chromosome Location	chr14:66259394-66287974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65878097..65879607-chr14:66264869..66267520,2	MCF-7	breast:
2	chr14:66268768..66270797-chr14:66283972..66286335,2	MCF-7	breast:
3	chr14:66277703..66280018-chr14:66286044..66288348,2	K562	blood:
4	chr14:65880088..65881939-chr14:66282983..66284508,2	MCF-7	breast:
5	chr14:66262965..66265183-chr14:66266765..66269639,2	MCF-7	breast:
6	chr14:66281943..66282566-chr14:66537249..66538129,3	MCF-7	breast:
7	chr14:65878379..65880448-chr14:66287247..66290167,2	MCF-7	breast:
8	chr14:66270049..66272588-chr14:66272600..66274303,2	MCF-7	breast:
9	chr14:66263365..66266038-chr14:66272538..66274429,2	MCF-7	breast:
10	chr14:65877493..65879893-chr14:66259513..66261603,2	MCF-7	breast:
11	chr14:66265298..66267312-chr14:66388199..66390774,2	K562	blood:
12	chr14:66262965..66265183-chr14:66266765..66269639,2	MCF-7	breast:
13	chr14:66277703..66280018-chr14:66286044..66288348,2	K562	blood:
14	chr14:66263365..66266038-chr14:66272538..66274429,2	MCF-7	breast:
15	chr14:66283306..66285455-chr14:66289070..66291693,2	MCF-7	breast:
16	chr14:66281810..66282561-chr14:66425521..66426262,2	MCF-7	breast:
17	chr14:66277742..66279881-chr14:66280503..66283157,2	MCF-7	breast:
18	chr14:66268768..66270797-chr14:66283972..66286335,2	MCF-7	breast:
19	chr14:65878390..65881000-chr14:66282213..66285631,3	MCF-7	breast:
20	chr14:66270049..66272588-chr14:66272600..66274303,2	MCF-7	breast:
21	chr14:66284784..66288296-chr14:66289898..66292901,3	MCF-7	breast:
22	chr14:66277742..66279881-chr14:66280503..66283157,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUT8-3	chr14:66287495-66287592	NONHSAT037398
2	lnc-FUT8-3	chr14:66261740-66262033	NONHSAT037398

No data

Variant related genes	Relation type
ENSG00000033170	chromatin interactions

Extended variants
information (count: 978 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4073416	chr14:66259394-66259395	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184612526	chr14:66259406-66259407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4439682	chr14:66259428-66259429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556050213	chr14:66259432-66259433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4131095	chr14:66259437-66259438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144086437	chr14:66259492-66259493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542230792	chr14:66259519-66259520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376482663	chr14:66259521-66259522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559587352	chr14:66259528-66259529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4073415	chr14:66259530-66259531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542027698	chr14:66259579-66259580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527769668	chr14:66259595-66259596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561829023	chr14:66259636-66259637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61988979	chr14:66259719-66259720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148766064	chr14:66259720-66259721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141476170	chr14:66259755-66259756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4073414	chr14:66259759-66259760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12147874	chr14:66259794-66259795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546722916	chr14:66259809-66259810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188279221	chr14:66259814-66259815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534923737	chr14:66259854-66259855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs3892139	chr14:66259865-66259866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568266354	chr14:66259869-66259870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537358240	chr14:66259870-66259871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373628655	chr14:66259871-66259872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577212700	chr14:66259889-66259890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139518670	chr14:66259902-66259903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144179794	chr14:66259903-66259904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568790859	chr14:66259908-66259909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182056084	chr14:66259925-66259926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186303331	chr14:66259931-66259932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561869500	chr14:66259937-66259938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575473612	chr14:66259977-66259978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536986031	chr14:66260044-66260045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564221223	chr14:66260063-66260064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61988980	chr14:66260070-66260071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546264557	chr14:66260076-66260077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74056853	chr14:66260141-66260142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372955082	chr14:66260143-66260144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528958445	chr14:66260174-66260175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548626362	chr14:66260195-66260196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7148899	chr14:66260215-66260216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189097579	chr14:66260330-66260331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551282562	chr14:66260342-66260343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551896271	chr14:66260375-66260376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11850120	chr14:66260379-66260380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs553111608	chr14:66260388-66260389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573230329	chr14:66260400-66260401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537654432	chr14:66260416-66260417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535964365	chr14:66260527-66260528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66256600-66260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:66257200-66259400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr14:66258000-66259400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:66258200-66259400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:66258200-66259400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:66258200-66259400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:66258200-66259600	Enhancers	HMEC	breast
8	chr14:66258200-66259600	Enhancers	HSMM	muscle
9	chr14:66258200-66259600	Enhancers	Osteobl	bone
10	chr14:66258400-66259400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:66258400-66259400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:66258400-66259400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:66258400-66259400	Enhancers	NHDF-Ad	bronchial
14	chr14:66258400-66259600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:66258600-66259400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:66258600-66259400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:66258600-66259400	Flanking Active TSS	NH-A	brain
18	chr14:66258600-66259400	Enhancers	NHEK	skin
19	chr14:66258600-66259800	Weak transcription	Spleen	Spleen
20	chr14:66258600-66260200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:66258600-66265600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:66258800-66259400	Enhancers	NHLF	lung
23	chr14:66258800-66268800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:66259000-66259400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:66259000-66259400	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr14:66259000-66261200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:66259000-66261400	Weak transcription	Right Atrium	heart
28	chr14:66259400-66261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:66259400-66265000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:66259800-66260600	Enhancers	Spleen	Spleen
31	chr14:66260200-66260400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:66260200-66260400	Enhancers	Pancreas	Pancrea
33	chr14:66261200-66262000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:66261400-66261600	Enhancers	Gastric	stomach
35	chr14:66261600-66261800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:66261600-66262600	Weak transcription	Gastric	stomach
37	chr14:66262600-66262800	Enhancers	Gastric	stomach
38	chr14:66262600-66262800	Enhancers	Pancreas	Pancrea
39	chr14:66264600-66265000	Enhancers	Brain Germinal Matrix	brain
40	chr14:66265000-66265200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr14:66265600-66265800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:66268200-66269400	Enhancers	Fetal Lung	lung
43	chr14:66268600-66268800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:66270800-66271800	Enhancers	GM12878-XiMat	blood
45	chr14:66271200-66271400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:66271400-66272600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:66272800-66273600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:66273000-66273400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:66275000-66275200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:66275200-66277000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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