Variant report

Variant	esv2506970
Chromosome Location	chr14:65526275-65527816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65524935..65527160-chr14:65537438..65539192,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182233272	chr14:65526287-65526288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60053410	chr14:65526380-65526381	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536844654	chr14:65526411-65526412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567826572	chr14:65526412-65526413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546119658	chr14:65526426-65526427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147261419	chr14:65526456-65526457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556457368	chr14:65526504-65526505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200508764	chr14:65526556-65526557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576241243	chr14:65526561-65526562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34459085	chr14:65526571-65526572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186469526	chr14:65526573-65526574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538729931	chr14:65526606-65526607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192703424	chr14:65526676-65526677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572075827	chr14:65526751-65526752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562609270	chr14:65526793-65526794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140834680	chr14:65526840-65526841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561251898	chr14:65526841-65526842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375218128	chr14:65526846-65526847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185703894	chr14:65526847-65526848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188985782	chr14:65526857-65526858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200835204	chr14:65526921-65526922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201973113	chr14:65526932-65526933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563131784	chr14:65526959-65526960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113927228	chr14:65526997-65526998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551464278	chr14:65527066-65527067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12893404	chr14:65527122-65527123	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs200536093	chr14:65527159-65527160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150768727	chr14:65527161-65527162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527700504	chr14:65527185-65527186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547446900	chr14:65527222-65527223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61987404	chr14:65527240-65527241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536528033	chr14:65527256-65527257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553021820	chr14:65527270-65527271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550438618	chr14:65527275-65527276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572862390	chr14:65527283-65527284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570260314	chr14:65527306-65527307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539188913	chr14:65527307-65527308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558695544	chr14:65527371-65527372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71444684	chr14:65527433-65527434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372358940	chr14:65527434-65527435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376725286	chr14:65527436-65527437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192955214	chr14:65527478-65527479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113190188	chr14:65527528-65527529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554247137	chr14:65527539-65527540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574712844	chr14:65527551-65527552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541740991	chr14:65527554-65527555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372387194	chr14:65527563-65527564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371344701	chr14:65527589-65527590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58801925	chr14:65527607-65527608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552672987	chr14:65527609-65527610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	17440070	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:65501800-65543200	Weak transcription	Fetal Brain Male	brain
5	chr14:65508200-65530800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:65508400-65527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:65508400-65527800	Weak transcription	Colonic Mucosa	Colon
8	chr14:65508400-65528000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:65508600-65530800	Weak transcription	NHDF-Ad	bronchial
10	chr14:65508600-65542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:65509600-65528000	Weak transcription	Fetal Kidney	kidney
12	chr14:65510200-65527800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:65511600-65528600	Weak transcription	NH-A	brain
14	chr14:65511800-65527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:65514600-65527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:65514600-65527600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:65514600-65527600	Weak transcription	GM12878-XiMat	blood
18	chr14:65514800-65527800	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:65514800-65536200	Weak transcription	Small Intestine	intestine
20	chr14:65515200-65528000	Weak transcription	HUVEC	blood vessel
21	chr14:65515200-65528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:65515200-65530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:65515400-65527800	Weak transcription	Hela-S3	cervix
24	chr14:65515400-65527800	Weak transcription	NHEK	skin
25	chr14:65515600-65527800	Weak transcription	HMEC	breast
26	chr14:65517400-65527800	Weak transcription	Stomach Mucosa	stomach
27	chr14:65519600-65526400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:65519600-65529000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr14:65521000-65526600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:65521600-65527600	Weak transcription	NHLF	lung
31	chr14:65521800-65527600	Weak transcription	HSMM	muscle
32	chr14:65521800-65527800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:65521800-65527800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:65521800-65527800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:65521800-65527800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:65521800-65527800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:65521800-65527800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:65521800-65527800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:65521800-65527800	Weak transcription	Right Ventricle	heart
40	chr14:65521800-65528000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:65522000-65527600	Weak transcription	Brain Substantia Nigra	brain
42	chr14:65522000-65527600	Weak transcription	A549	lung
43	chr14:65522000-65527800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:65522000-65527800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:65522000-65527800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:65522000-65527800	Weak transcription	Brain Angular Gyrus	brain
47	chr14:65522000-65527800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:65522000-65527800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:65522000-65527800	Weak transcription	Lung	lung
50	chr14:65522000-65527800	Weak transcription	Ovary	ovary

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