Variant report

Variant	nsv1050239
Chromosome Location	chr14:24478882-24500633
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24483165..24483827-chr14:24559565..24560642,4	MCF-7	breast:
2	chr14:24482840..24483718-chr14:24710880..24711620,2	MCF-7	breast:
3	chr14:24483262..24483795-chr14:24906005..24906586,2	K562	blood:
4	chr14:24482659..24484974-chr14:24503307..24504865,2	MCF-7	breast:
5	chr14:24482802..24483800-chr14:24505642..24506553,4	MCF-7	breast:
6	chr14:24482946..24483934-chr14:24503845..24504435,3	MCF-7	breast:
7	chr14:24482858..24483785-chr14:24559502..24560237,2	K562	blood:
8	chr14:24421533..24423333-chr14:24480435..24482151,2	K562	blood:
9	chr14:24476695..24479385-chr14:24563251..24564763,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100889	chromatin interactions
ENSG00000215256	chromatin interactions
ENSG00000092330	chromatin interactions
ENSG00000225766	chromatin interactions
ENSG00000157326	chromatin interactions
ENSG00000129535	chromatin interactions

Extended variants
information (count: 893 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:893 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574218723	chr14:24478883-24478884	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113648371	chr14:24478891-24478892	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187771145	chr14:24478896-24478897	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529371613	chr14:24478903-24478904	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545064002	chr14:24478909-24478910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564933928	chr14:24478917-24478918	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs113244261	chr14:24478923-24478924	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544048778	chr14:24478949-24478950	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570193767	chr14:24478957-24478958	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs551068394	chr14:24478958-24478959	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546848800	chr14:24478963-24478964	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs34080639	chr14:24478984-24478985	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560060659	chr14:24479009-24479010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs193214568	chr14:24479016-24479017	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs185524380	chr14:24479027-24479028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190344939	chr14:24479042-24479043	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs4982842	chr14:24479048-24479049	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs4982843	chr14:24479055-24479056	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567828234	chr14:24479060-24479061	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs536493317	chr14:24479068-24479069	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181674301	chr14:24479070-24479071	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534911502	chr14:24479075-24479076	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201504513	chr14:24479090-24479091	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs184231501	chr14:24479097-24479098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs199497420	chr14:24479132-24479133	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546278954	chr14:24479133-24479134	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188566066	chr14:24479167-24479168	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544277938	chr14:24479168-24479169	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148700913	chr14:24479172-24479173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574569534	chr14:24479176-24479177	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540093564	chr14:24479182-24479183	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs34983147	chr14:24479184-24479185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs180881449	chr14:24479213-24479214	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185139755	chr14:24479219-24479220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs56350616	chr14:24479220-24479221	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564924021	chr14:24479222-24479223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201833869	chr14:24479225-24479226	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551050801	chr14:24479226-24479227	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146251770	chr14:24479261-24479262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs189126740	chr14:24479264-24479265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs139172432	chr14:24479268-24479269	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs11158498	chr14:24479282-24479283	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539356747	chr14:24479298-24479299	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144051916	chr14:24479309-24479310	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs568847755	chr14:24479314-24479315	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs537487885	chr14:24479326-24479327	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554638332	chr14:24479327-24479328	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs573467847	chr14:24479340-24479341	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs112937630	chr14:24479364-24479365	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs11158499	chr14:24479365-24479366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24475200-24480000	Weak transcription	GM12878-XiMat	blood
2	chr14:24475600-24482600	Weak transcription	Fetal Brain Male	brain
3	chr14:24476200-24480400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:24476600-24479200	Weak transcription	Fetal Intestine Large	intestine
5	chr14:24476600-24479200	Weak transcription	Fetal Intestine Small	intestine
6	chr14:24476600-24480000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:24476600-24480000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:24476600-24480400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:24476600-24481000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:24476600-24482600	Weak transcription	Primary T cells from cord blood	blood
11	chr14:24476800-24479600	Weak transcription	Brain Angular Gyrus	brain
12	chr14:24476800-24480000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:24476800-24480200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:24476800-24480600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:24476800-24482200	Weak transcription	A549	lung
16	chr14:24476800-24483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:24476800-24483200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:24476800-24483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:24477000-24479600	Weak transcription	Thymus	Thymus
20	chr14:24477000-24479800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr14:24477000-24479800	Weak transcription	Liver	Liver
22	chr14:24477000-24480000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:24477000-24480400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:24477000-24482200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:24477000-24482600	Weak transcription	Brain Anterior Caudate	brain
26	chr14:24477000-24482600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:24477000-24483200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:24477000-24483400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:24477400-24479600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:24477600-24480000	Enhancers	Dnd41	blood
31	chr14:24477600-24480400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:24477600-24483000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:24477600-24483000	Weak transcription	K562	blood
34	chr14:24477800-24479800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:24478000-24479600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:24478000-24479600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:24478000-24479600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:24478000-24479800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:24478200-24479000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr14:24478400-24479000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr14:24478400-24480200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr14:24478800-24480600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:24478800-24481200	Enhancers	HepG2	liver
44	chr14:24478800-24483200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:24479000-24479400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr14:24479000-24479400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:24479200-24480200	Enhancers	Fetal Intestine Large	intestine
48	chr14:24479400-24479600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr14:24479400-24480600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr14:24479600-24479800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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