Variant report

Variant	nsv974349
Chromosome Location	chr14:66419402-66419902
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	chr14:66409655..66412849-chr14:66417225..66419477,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150988437	chr14:66419445-66419446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535870647	chr14:66419446-66419447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535694028	chr14:66419513-66419514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549052603	chr14:66419530-66419531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569041182	chr14:66419536-66419537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73276397	chr14:66419584-66419585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114763894	chr14:66419610-66419611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577820165	chr14:66419617-66419618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554351297	chr14:66419652-66419653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554148144	chr14:66419675-66419676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377356639	chr14:66419680-66419681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542870241	chr14:66419710-66419711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566600861	chr14:66419717-66419718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562541008	chr14:66419738-66419739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10873193	chr14:66419752-66419753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544948973	chr14:66419753-66419754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111558179	chr14:66419775-66419776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112338321	chr14:66419816-66419817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146710513	chr14:66419827-66419828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80130773	chr14:66419832-66419833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374359588	chr14:66419867-66419868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66413200-66424200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:66416600-66423200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:66417000-66423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:66417600-66425400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:66418000-66424400	Weak transcription	Primary T cells from cord blood	blood
6	chr14:66418400-66425400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:66419000-66421600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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