Variant report

Variant	nsv902077
Chromosome Location	chr14:72576679-72632217
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:0)
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	chr14:72621837..72624302-chr14:72634079..72635792,2	MCF-7	breast:
2	chr14:72576188..72578835-chr14:72578998..72581492,2	MCF-7	breast:
3	chr14:72576115..72579038-chr14:72700345..72702644,2	MCF-7	breast:
4	chr14:72597012..72598852-chr14:72598857..72600389,2	MCF-7	breast:
5	chr14:72578582..72581260-chr14:72582904..72584736,2	MCF-7	breast:
6	chr14:72576188..72578835-chr14:72578998..72581492,2	MCF-7	breast:
7	chr14:72593195..72596208-chr14:72598976..72603730,4	MCF-7	breast:
8	chr14:72566417..72567979-chr14:72573901..72576808,2	MCF-7	breast:
9	chr14:72597012..72598852-chr14:72598857..72600389,2	MCF-7	breast:
10	chr14:72578582..72581260-chr14:72582904..72584736,2	MCF-7	breast:
11	chr14:72588996..72591752-chr14:72592712..72595173,2	MCF-7	breast:
12	chr14:72621301..72622101-chr14:72887197..72887727,2	MCF-7	breast:
13	chr14:72607989..72609543-chr14:72609744..72612622,2	MCF-7	breast:
14	chr14:72569192..72571629-chr14:72585276..72587215,2	MCF-7	breast:
15	chr14:72588996..72591752-chr14:72592712..72595173,2	MCF-7	breast:
16	chr14:72621480..72622247-chr14:72887274..72888062,2	MCF-7	breast:
17	chr14:72583645..72586251-chr14:72590170..72591676,2	MCF-7	breast:
18	chr14:72583645..72586251-chr14:72590170..72591676,2	MCF-7	breast:
19	chr14:72593788..72596146-chr20:43104582..43107038,2	MCF-7	breast:
20	chr14:72593195..72596208-chr14:72598976..72603730,4	MCF-7	breast:
21	chr14:72607989..72609543-chr14:72609744..72612622,2	MCF-7	breast:
22	chr14:72570876..72571556-chr14:72578792..72579459,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182732	chromatin interactions

Extended variants
information (count: 2286 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2286 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8003628	chr14:72576679-72576680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs8004062	chr14:72576705-72576706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540827943	chr14:72576738-72576739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559191207	chr14:72576742-72576743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533090795	chr14:72576755-72576756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142881802	chr14:72576778-72576779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181680464	chr14:72576831-72576832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530577138	chr14:72576849-72576850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557034928	chr14:72576890-72576891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200875429	chr14:72576920-72576921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186527432	chr14:72576924-72576925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372013172	chr14:72576926-72576927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147048078	chr14:72576927-72576928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371650076	chr14:72576942-72576943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77687070	chr14:72576971-72576972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191121636	chr14:72577040-72577041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566330408	chr14:72577067-72577068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183265854	chr14:72577086-72577087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539731236	chr14:72577124-72577125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116179134	chr14:72577128-72577129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34278557	chr14:72577160-72577161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576348255	chr14:72577168-72577169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532519335	chr14:72577169-72577170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367711166	chr14:72577172-72577173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543420074	chr14:72577193-72577194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185348266	chr14:72577196-72577197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573815971	chr14:72577250-72577251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549833115	chr14:72577251-72577252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559105296	chr14:72577268-72577269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533178499	chr14:72577285-72577286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544974570	chr14:72577313-72577314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17107452	chr14:72577355-72577356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369351932	chr14:72577390-72577391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530386898	chr14:72577439-72577440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79707262	chr14:72577460-72577461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75125461	chr14:72577469-72577470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528211762	chr14:72577528-72577529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149596993	chr14:72577541-72577542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144293172	chr14:72577557-72577558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17179644	chr14:72577559-72577560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs17179664	chr14:72577584-72577585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs118092186	chr14:72577588-72577589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537016220	chr14:72577612-72577613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148737097	chr14:72577633-72577634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573729010	chr14:72577668-72577669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374657489	chr14:72577687-72577688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10483840	chr14:72577702-72577703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141524999	chr14:72577708-72577709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569549009	chr14:72577730-72577731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143624735	chr14:72577740-72577741	Weak transcription	n/a	n/a	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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72566600-72591800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72570200-72582400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72571000-72580200	Weak transcription	Left Ventricle	heart
4	chr14:72576000-72578600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:72578800-72580000	Enhancers	Fetal Brain Male	brain
6	chr14:72580200-72580600	Enhancers	Left Ventricle	heart
7	chr14:72580400-72580800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:72580400-72581200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:72580600-72583800	Weak transcription	Left Ventricle	heart
10	chr14:72581200-72584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:72582200-72582600	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:72582400-72582600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:72582600-72582800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:72582800-72583800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:72583800-72584200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:72583800-72584400	Enhancers	Left Ventricle	heart
17	chr14:72584200-72584600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:72584200-72600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:72584400-72595400	Weak transcription	Left Ventricle	heart
20	chr14:72585000-72585400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:72585400-72587800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:72587800-72588400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:72589000-72589200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr14:72589200-72590200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:72590200-72590800	Enhancers	GM12878-XiMat	blood
26	chr14:72590200-72591200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr14:72590200-72591800	Enhancers	Primary hematopoietic stem cells	blood
28	chr14:72590400-72590800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:72590800-72591200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:72590800-72591200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:72591200-72592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:72591200-72594600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:72591800-72592400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:72592400-72600400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:72592800-72593800	Enhancers	Pancreas	Pancrea
36	chr14:72593800-72595400	Weak transcription	Pancreas	Pancrea
37	chr14:72594600-72594800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr14:72594600-72595200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:72594600-72595400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:72594600-72595600	Enhancers	Primary hematopoietic stem cells	blood
41	chr14:72594600-72597200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:72594800-72595200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:72595200-72595600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr14:72595200-72596000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:72595200-72596600	Enhancers	Colon Smooth Muscle	Colon
46	chr14:72595400-72595600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr14:72595400-72595600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:72595400-72595600	Enhancers	Left Ventricle	heart
49	chr14:72595400-72595600	Enhancers	Pancreas	Pancrea
50	chr14:72595400-72595800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links