Variant report

Variant	esv3330142
Chromosome Location	chr14:65726565-65727458
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65723281..65726603-chr14:65825964..65828012,3	MCF-7	breast:
2	chr14:65718344..65729728-chr14:65875413..65882756,31	MCF-7	breast:
3	chr14:65725388..65728499-chr14:65821707..65823714,3	MCF-7	breast:
4	chr14:65708443..65711390-chr14:65727270..65732025,4	MCF-7	breast:
5	chr14:65721905..65725444-chr14:65725472..65730269,4	MCF-7	breast:
6	chr14:65720143..65726834-chr14:65876571..65883583,24	MCF-7	breast:
7	chr14:65689123..65699940-chr14:65718655..65726829,32	MCF-7	breast:
8	chr14:65687724..65702236-chr14:65717995..65729217,67	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255002	chromatin interactions
ENSG00000258878	chromatin interactions
ENSG00000033170	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150414979	chr14:65726607-65726608	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs138149777	chr14:65726611-65726612	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs575820175	chr14:65726650-65726651	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs544866691	chr14:65726677-65726678	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs141073109	chr14:65726678-65726679	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs577959054	chr14:65726688-65726689	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs377468431	chr14:65726719-65726720	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs4902376	chr14:65726731-65726732	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs147887126	chr14:65726799-65726800	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs578117511	chr14:65726824-65726825	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs540278338	chr14:65726826-65726827	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs560168206	chr14:65726837-65726838	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs59756009	chr14:65726842-65726843	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs72144340	chr14:65726843-65726844	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4902377	chr14:65726844-65726845	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs181291521	chr14:65726846-65726847	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs397938387	chr14:65726864-65726865	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs144901283	chr14:65726884-65726885	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs115835720	chr14:65726894-65726895	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs138649708	chr14:65726920-65726921	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs34081824	chr14:65726966-65726967	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141779487	chr14:65726978-65726979	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs146209700	chr14:65727010-65727011	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs78798422	chr14:65727052-65727053	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs148019254	chr14:65727055-65727056	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs58968162	chr14:65727059-65727060	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs536372566	chr14:65727097-65727098	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs185355981	chr14:65727112-65727113	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs79230063	chr14:65727153-65727154	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs538094783	chr14:65727171-65727172	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs141682625	chr14:65727236-65727237	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs188226516	chr14:65727266-65727267	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs180725651	chr14:65727269-65727270	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs561373733	chr14:65727318-65727319	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs187415393	chr14:65727359-65727360	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	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	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65714000-65735400	Weak transcription	Primary B cells from cord blood	blood
3	chr14:65721600-65727000	Enhancers	HUVEC	blood vessel
4	chr14:65722200-65728400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:65723200-65726800	Weak transcription	Gastric	stomach
6	chr14:65723200-65727200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:65723400-65726800	Weak transcription	Primary T cells from cord blood	blood
8	chr14:65723400-65727000	Enhancers	Hela-S3	cervix
9	chr14:65724000-65728800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:65724400-65728200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:65724400-65728400	Enhancers	NHDF-Ad	bronchial
12	chr14:65725400-65727200	Weak transcription	NH-A	brain
13	chr14:65725400-65730000	Weak transcription	HSMM	muscle
14	chr14:65725600-65727200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:65725600-65727200	Weak transcription	Osteobl	bone
16	chr14:65725600-65728000	Weak transcription	HepG2	liver
17	chr14:65726000-65726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:65726000-65729800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:65726200-65726800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:65726200-65726800	Weak transcription	HMEC	breast
21	chr14:65726200-65727000	Weak transcription	NHLF	lung
22	chr14:65726600-65727600	Enhancers	Stomach Mucosa	stomach
23	chr14:65726800-65727400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:65726800-65727400	Enhancers	Primary T cells from cord blood	blood
25	chr14:65726800-65727400	Enhancers	Gastric	stomach
26	chr14:65726800-65727600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:65726800-65727600	Enhancers	Stomach Smooth Muscle	stomach
28	chr14:65727000-65727400	Enhancers	Primary B cells from peripheral blood	blood
29	chr14:65727000-65728200	Enhancers	NHLF	lung
30	chr14:65727000-65730000	Weak transcription	HUVEC	blood vessel
31	chr14:65727200-65727400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:65727200-65727600	Enhancers	Osteobl	bone
33	chr14:65727200-65728000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:65727200-65728200	Enhancers	NH-A	brain
35	chr14:65727200-65735000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr14:65727400-65749600	Weak transcription	Gastric	stomach

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