Variant report

Variant	nsv521286
Chromosome Location	chr14:65277890-65281944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65272282..65274917-chr14:65276747..65279585,3	MCF-7	breast:
2	chr14:65277012..65279829-chr14:65281004..65282816,2	MCF-7	breast:
3	chr14:65277012..65279829-chr14:65281004..65282816,2	MCF-7	breast:
4	chr14:65277232..65280033-chr14:65282761..65285500,2	K562	blood:
5	chr14:65280294..65282900-chr14:65322430..65324178,2	MCF-7	breast:

Extended variants
information (count: 167 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1741466	chr14:65277890-65277891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147859393	chr14:65277974-65277975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77323770	chr14:65277984-65277985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117136588	chr14:65278084-65278085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187661165	chr14:65278182-65278183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373817769	chr14:65278193-65278194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191969021	chr14:65278215-65278216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544016001	chr14:65278232-65278233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376187641	chr14:65278285-65278286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77930803	chr14:65278353-65278354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183489026	chr14:65278435-65278436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188425849	chr14:65278439-65278440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77490765	chr14:65278537-65278538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541752875	chr14:65278597-65278598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77584142	chr14:65278598-65278599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190145530	chr14:65278603-65278604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554154760	chr14:65278622-65278623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574241273	chr14:65278662-65278663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563444954	chr14:65278674-65278675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532461064	chr14:65278702-65278703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115209466	chr14:65278711-65278712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543708807	chr14:65278726-65278727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3819928	chr14:65278740-65278741	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568077547	chr14:65278741-65278742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3819927	chr14:65278825-65278826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs3819926	chr14:65278838-65278839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568760290	chr14:65278846-65278847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537686329	chr14:65278909-65278910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545095319	chr14:65278911-65278912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557540705	chr14:65278942-65278943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564964545	chr14:65278947-65278948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2750083	chr14:65278955-65278956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547732572	chr14:65278956-65278957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116457563	chr14:65278959-65278960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540013619	chr14:65278970-65278971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386778335	chr14:65278971-65278972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1695779	chr14:65278972-65278973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561696402	chr14:65278975-65278976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4049	chr14:65279118-65279119	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs371103331	chr14:65279129-65279130	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs182788532	chr14:65279134-65279135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs186742329	chr14:65279215-65279216	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532663085	chr14:65279243-65279244	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569858533	chr14:65279271-65279272	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs389986	chr14:65279276-65279277	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559781526	chr14:65279288-65279289	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558665058	chr14:65279291-65279292	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376295190	chr14:65279319-65279320	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528535414	chr14:65279330-65279331	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147617530	chr14:65279358-65279359	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164920	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
2	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:65268400-65290200	Weak transcription	Brain Germinal Matrix	brain
4	chr14:65271400-65289800	Weak transcription	Brain Anterior Caudate	brain
5	chr14:65273000-65279200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:65273200-65279000	Weak transcription	Pancreas	Pancrea
7	chr14:65273400-65279000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:65273800-65279000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:65273800-65287200	Weak transcription	K562	blood
10	chr14:65274000-65278200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:65274200-65278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:65274400-65278400	Weak transcription	NHEK	skin
13	chr14:65274600-65278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:65274600-65278400	Weak transcription	HMEC	breast
15	chr14:65274600-65279000	Weak transcription	Fetal Thymus	thymus
16	chr14:65274600-65284600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:65274800-65278200	Weak transcription	A549	lung
18	chr14:65274800-65278800	Weak transcription	Left Ventricle	heart
19	chr14:65274800-65279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:65274800-65279000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:65274800-65279000	Weak transcription	Lung	lung
22	chr14:65274800-65279000	Weak transcription	Right Atrium	heart
23	chr14:65274800-65279200	Weak transcription	Fetal Heart	heart
24	chr14:65275000-65281800	Weak transcription	Right Ventricle	heart
25	chr14:65275800-65278400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:65275800-65279000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:65275800-65290000	Weak transcription	Psoas Muscle	Psoas
28	chr14:65277000-65278000	Weak transcription	Hela-S3	cervix
29	chr14:65277400-65279000	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:65277800-65278800	Weak transcription	Aorta	Aorta
31	chr14:65278000-65279600	Enhancers	Hela-S3	cervix
32	chr14:65278200-65278400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr14:65278200-65279200	Enhancers	A549	lung
34	chr14:65278400-65278800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:65278400-65278800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:65278400-65279000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:65278400-65279000	Enhancers	NHEK	skin
38	chr14:65278400-65279200	Enhancers	Liver	Liver
39	chr14:65278400-65279400	Enhancers	HMEC	breast
40	chr14:65278400-65279600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr14:65278400-65280800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr14:65278800-65279000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:65278800-65279000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr14:65278800-65279000	Enhancers	Placenta	Placenta
45	chr14:65278800-65279200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr14:65278800-65279400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:65278800-65279400	Enhancers	Aorta	Aorta
48	chr14:65278800-65279600	Enhancers	Left Ventricle	heart
49	chr14:65279000-65279200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:65279000-65279200	Flanking Active TSS	H9 Cell Line	embryonic stem cell

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