Variant report

Variant	esv1008915
Chromosome Location	chr14:65117194-65126733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65121948..65123867-chr14:65127242..65130196,2	MCF-7	breast:
2	chr14:64970155..64972039-chr14:65126466..65128560,2	MCF-7	breast:
3	chr14:65106953..65109220-chr14:65116846..65120872,3	MCF-7	breast:
4	chr14:65116281..65118430-chr14:65188317..65189997,2	MCF-7	breast:
5	chr14:65091021..65092580-chr14:65124236..65126291,2	MCF-7	breast:
6	chr14:64968793..64973673-chr14:65119564..65122078,5	MCF-7	breast:
7	chr14:64969948..64971989-chr14:65116730..65119122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126804	chromatin interactions
ENSG00000089775	chromatin interactions

Extended variants
information (count: 415 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535570570	chr14:65117221-65117222	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs548984440	chr14:65117231-65117232	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs541657214	chr14:65117235-65117236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561806805	chr14:65117238-65117239	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568911976	chr14:65117269-65117270	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538135140	chr14:65117299-65117300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557985408	chr14:65117301-65117302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376421955	chr14:65117331-65117332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529488915	chr14:65117372-65117373	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571462379	chr14:65117377-65117378	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs184184996	chr14:65117395-65117396	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553708004	chr14:65117406-65117407	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs148115854	chr14:65117414-65117415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140287379	chr14:65117426-65117427	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369071282	chr14:65117449-65117450	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs71416333	chr14:65117450-65117451	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs181156780	chr14:65117494-65117495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186655851	chr14:65117532-65117533	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544287326	chr14:65117544-65117545	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564765367	chr14:65117558-65117559	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371032862	chr14:65117729-65117730	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs141835795	chr14:65117740-65117741	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs189085851	chr14:65117886-65117887	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs560554923	chr14:65117904-65117905	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs528987813	chr14:65117906-65117907	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549146053	chr14:65117914-65117915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs180996330	chr14:65117962-65117963	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs61067746	chr14:65118016-65118017	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs58268586	chr14:65118051-65118052	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs58273663	chr14:65118090-65118091	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571492411	chr14:65118144-65118145	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35345958	chr14:65118168-65118169	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533873326	chr14:65118203-65118204	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs553920693	chr14:65118204-65118205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs111924254	chr14:65118254-65118255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs67008611	chr14:65118267-65118268	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs60083298	chr14:65118277-65118278	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs57925632	chr14:65118278-65118279	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs567166990	chr14:65118287-65118288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs150627313	chr14:65118298-65118299	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs186407696	chr14:65118301-65118302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs139611669	chr14:65118308-65118309	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs143520789	chr14:65118334-65118335	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557893603	chr14:65118384-65118385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11158550	chr14:65118446-65118447	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146278543	chr14:65118484-65118485	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs368134621	chr14:65118487-65118488	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs11158551	chr14:65118516-65118517	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76992728	chr14:65118520-65118521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs137998327	chr14:65118525-65118526	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65113000-65121000	Weak transcription	Fetal Heart	heart
2	chr14:65115800-65117800	Enhancers	A549	lung
3	chr14:65115800-65120600	Weak transcription	NH-A	brain
4	chr14:65116200-65117800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:65116400-65120600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:65116400-65121000	Weak transcription	Pancreas	Pancrea
7	chr14:65116600-65120400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:65116600-65120400	Weak transcription	Osteobl	bone
9	chr14:65116600-65120600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:65116600-65120600	Weak transcription	Adipose Nuclei	Adipose
11	chr14:65116600-65120600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:65116600-65120600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:65116800-65120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:65116800-65120400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:65116800-65120600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:65116800-65120600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:65116800-65121200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:65116800-65121200	Weak transcription	Spleen	Spleen
19	chr14:65116800-65125000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:65117000-65117400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:65117000-65117400	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:65117000-65120400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:65117000-65120600	Weak transcription	Liver	Liver
24	chr14:65117000-65120600	Weak transcription	Placenta	Placenta
25	chr14:65117000-65128400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:65117600-65117800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:65117800-65120600	Weak transcription	A549	lung
28	chr14:65117800-65121000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:65118600-65120200	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:65119200-65121200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr14:65119400-65121200	Weak transcription	Psoas Muscle	Psoas
32	chr14:65120200-65120600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:65120200-65121000	Enhancers	HepG2	liver
34	chr14:65120200-65122200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:65120400-65121000	Enhancers	Osteobl	bone
36	chr14:65120400-65121200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:65120400-65121200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr14:65120400-65121200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:65120400-65121200	Enhancers	NHDF-Ad	bronchial
40	chr14:65120400-65121800	Enhancers	HSMMtube	muscle
41	chr14:65120400-65122000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:65120400-65122000	Enhancers	HSMM	muscle
43	chr14:65120400-65122000	Enhancers	NHLF	lung
44	chr14:65120400-65122200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:65120400-65122200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr14:65120400-65122200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr14:65120400-65122200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr14:65120400-65122200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:65120400-65122200	Enhancers	Fetal Muscle Leg	muscle
50	chr14:65120400-65122600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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