Variant report

Variant	esv3368124
Chromosome Location	chr14:65649931-65650515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65649526..65652091-chr14:65652657..65655618,2	MCF-7	breast:
2	chr14:65646749..65648521-chr14:65650212..65652382,2	K562	blood:
3	chr14:65649804..65652587-chr14:65878283..65880596,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572730907	chr14:65649934-65649935	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs7160899	chr14:65649942-65649943	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78611670	chr14:65649970-65649971	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189166713	chr14:65649971-65649972	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543987715	chr14:65650028-65650029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562288531	chr14:65650085-65650086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564675323	chr14:65650088-65650089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370247262	chr14:65650089-65650090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563419982	chr14:65650094-65650095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548954592	chr14:65650095-65650096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371133265	chr14:65650105-65650106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199573096	chr14:65650107-65650108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539624895	chr14:65650109-65650110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563892582	chr14:65650138-65650139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577431844	chr14:65650171-65650172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148183522	chr14:65650207-65650208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373936974	chr14:65650215-65650216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528469684	chr14:65650265-65650266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12892446	chr14:65650313-65650314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548215213	chr14:65650315-65650316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561804352	chr14:65650318-65650319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530913645	chr14:65650331-65650332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550329330	chr14:65650354-65650355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2991529	chr14:65650465-65650466	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs117571784	chr14:65650491-65650492	Weak transcription	Chromatin interactive region	1 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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65641600-65653400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:65641600-65653600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:65641600-65658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:65641800-65650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:65641800-65653600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65647600-65650600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:65647600-65650800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:65647600-65651000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:65647600-65651000	Weak transcription	Fetal Heart	heart
10	chr14:65647800-65650600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:65647800-65650600	Weak transcription	NH-A	brain
12	chr14:65647800-65650600	Weak transcription	NHEK	skin
13	chr14:65647800-65650600	Weak transcription	Osteobl	bone
14	chr14:65647800-65659800	Weak transcription	Fetal Intestine Large	intestine
15	chr14:65648200-65650000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:65648200-65652400	Weak transcription	Pancreas	Pancrea
17	chr14:65648400-65650000	ZNF genes & repeats	GM12878-XiMat	blood
18	chr14:65649600-65650600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:65650000-65650600	Weak transcription	GM12878-XiMat	blood
20	chr14:65650000-65653200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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