Variant report

Variant	nsv902076
Chromosome Location	chr14:72565656-72632217
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:72607989..72609543-chr14:72609744..72612622,2	MCF-7	breast:
2	chr14:72621480..72622247-chr14:72887274..72888062,2	MCF-7	breast:
3	chr14:72569192..72571629-chr14:72585276..72587215,2	MCF-7	breast:
4	chr14:72570876..72571556-chr14:72578792..72579459,2	MCF-7	breast:
5	chr14:72576188..72578835-chr14:72578998..72581492,2	MCF-7	breast:
6	chr14:72576188..72578835-chr14:72578998..72581492,2	MCF-7	breast:
7	chr14:72570876..72571556-chr14:72578792..72579459,2	MCF-7	breast:
8	chr14:72583645..72586251-chr14:72590170..72591676,2	MCF-7	breast:
9	chr14:72593195..72596208-chr14:72598976..72603730,4	MCF-7	breast:
10	chr14:72597012..72598852-chr14:72598857..72600389,2	MCF-7	breast:
11	chr14:72588996..72591752-chr14:72592712..72595173,2	MCF-7	breast:
12	chr14:72566736..72569585-chr14:72907798..72910689,2	MCF-7	breast:
13	chr14:72570485..72571316-chr14:72887115..72887787,3	MCF-7	breast:
14	chr14:72597012..72598852-chr14:72598857..72600389,2	MCF-7	breast:
15	chr14:72621837..72624302-chr14:72634079..72635792,2	MCF-7	breast:
16	chr14:72621301..72622101-chr14:72887197..72887727,2	MCF-7	breast:
17	chr14:72593195..72596208-chr14:72598976..72603730,4	MCF-7	breast:
18	chr14:72588996..72591752-chr14:72592712..72595173,2	MCF-7	breast:
19	chr14:72576115..72579038-chr14:72700345..72702644,2	MCF-7	breast:
20	chr14:72607989..72609543-chr14:72609744..72612622,2	MCF-7	breast:
21	chr14:72583645..72586251-chr14:72590170..72591676,2	MCF-7	breast:
22	chr14:72593788..72596146-chr20:43104582..43107038,2	MCF-7	breast:
23	chr14:72566417..72567979-chr14:72573901..72576808,2	MCF-7	breast:
24	chr14:72578582..72581260-chr14:72582904..72584736,2	MCF-7	breast:
25	chr14:72570534..72571227-chr14:72759065..72759718,2	MCF-7	breast:
26	chr14:72570215..72571451-chr14:72758982..72759729,6	MCF-7	breast:
27	chr14:72578582..72581260-chr14:72582904..72584736,2	MCF-7	breast:
28	chr14:72569192..72571629-chr14:72585276..72587215,2	MCF-7	breast:
29	chr14:72566417..72567979-chr14:72573901..72576808,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182732	chromatin interactions

Extended variants
information (count: 2710 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2710 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2239263	chr14:72565656-72565657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556017740	chr14:72565688-72565689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531343674	chr14:72565689-72565690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540761420	chr14:72565759-72565760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190216909	chr14:72565761-72565762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559340192	chr14:72565791-72565792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564735182	chr14:72565805-72565806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182477851	chr14:72565870-72565871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545080694	chr14:72565887-72565888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563467514	chr14:72565939-72565940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530614690	chr14:72565940-72565941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527527031	chr14:72565946-72565947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561195050	chr14:72565987-72565988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528378973	chr14:72565989-72565990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546541087	chr14:72566037-72566038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571247944	chr14:72566038-72566039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61994825	chr14:72566039-72566040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187516507	chr14:72566092-72566093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148754269	chr14:72566093-72566094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192087986	chr14:72566098-72566099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560246911	chr14:72566117-72566118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537614120	chr14:72566198-72566199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555688325	chr14:72566216-72566217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574243539	chr14:72566238-72566239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144717760	chr14:72566260-72566261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17179588	chr14:72566318-72566319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183906897	chr14:72566320-72566321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540756185	chr14:72566325-72566326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188902207	chr14:72566336-72566337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575658004	chr14:72566481-72566482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115609174	chr14:72566541-72566542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192393537	chr14:72566558-72566559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17179602	chr14:72566581-72566582	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184580342	chr14:72566601-72566602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565227282	chr14:72566637-72566638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532137060	chr14:72566649-72566650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147937520	chr14:72566677-72566678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568928076	chr14:72566705-72566706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7155479	chr14:72566709-72566710	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186723617	chr14:72566714-72566715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533442993	chr14:72566727-72566728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535246650	chr14:72566728-72566729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141768239	chr14:72566729-72566730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17107204	chr14:72566743-72566744	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538605945	chr14:72566778-72566779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569671133	chr14:72566807-72566808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80117220	chr14:72566816-72566817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575665092	chr14:72566829-72566830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17107210	chr14:72566881-72566882	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555074698	chr14:72566887-72566888	Enhancers 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:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72560600-72566600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72563200-72567400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:72564600-72566000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:72564800-72566000	Enhancers	Brain Germinal Matrix	brain
5	chr14:72565200-72569800	Weak transcription	Adipose Nuclei	Adipose
6	chr14:72565200-72569800	Weak transcription	Left Ventricle	heart
7	chr14:72565200-72569800	Weak transcription	Right Atrium	heart
8	chr14:72566000-72566400	Weak transcription	Brain Germinal Matrix	brain
9	chr14:72566200-72566400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:72566400-72567000	Enhancers	Brain Germinal Matrix	brain
11	chr14:72566600-72591800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:72567400-72569600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:72569600-72570200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:72569800-72570600	Enhancers	Adipose Nuclei	Adipose
15	chr14:72569800-72570600	Enhancers	Right Atrium	heart
16	chr14:72569800-72571000	Enhancers	Left Ventricle	heart
17	chr14:72570200-72582400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:72571000-72580200	Weak transcription	Left Ventricle	heart
19	chr14:72573800-72574400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:72576000-72578600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:72578800-72580000	Enhancers	Fetal Brain Male	brain
22	chr14:72580200-72580600	Enhancers	Left Ventricle	heart
23	chr14:72580400-72580800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:72580400-72581200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:72580600-72583800	Weak transcription	Left Ventricle	heart
26	chr14:72581200-72584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:72582200-72582600	Enhancers	Primary hematopoietic stem cells	blood
28	chr14:72582400-72582600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:72582600-72582800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:72582800-72583800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:72583800-72584200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:72583800-72584400	Enhancers	Left Ventricle	heart
33	chr14:72584200-72584600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:72584200-72600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:72584400-72595400	Weak transcription	Left Ventricle	heart
36	chr14:72585000-72585400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:72585400-72587800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:72587800-72588400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:72589000-72589200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr14:72589200-72590200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:72590200-72590800	Enhancers	GM12878-XiMat	blood
42	chr14:72590200-72591200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr14:72590200-72591800	Enhancers	Primary hematopoietic stem cells	blood
44	chr14:72590400-72590800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:72590800-72591200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:72590800-72591200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:72591200-72592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:72591200-72594600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:72591800-72592400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:72592400-72600400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links