Variant report

Variant	esv3352436
Chromosome Location	chr14:104910641-104910837
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	chr14:104890951..104893457-chr14:104909378..104911636,2	MCF-7	breast:
2	chr14:104903421..104906757-chr14:104907729..104911933,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374661845	chr14:104910645-104910646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28685877	chr14:104910646-104910647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74441020	chr14:104910652-104910653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77617942	chr14:104910659-104910660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371173904	chr14:104910674-104910675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143970494	chr14:104910675-104910676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148557204	chr14:104910676-104910677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541123086	chr14:104910677-104910678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141584205	chr14:104910684-104910685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs36155676	chr14:104910691-104910692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28657460	chr14:104910695-104910696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377426837	chr14:104910701-104910702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36149954	chr14:104910704-104910705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370353653	chr14:104910708-104910709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28604379	chr14:104910727-104910728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139393870	chr14:104910749-104910750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372220213	chr14:104910756-104910757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375160804	chr14:104910764-104910765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149603547	chr14:104910765-104910766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200958768	chr14:104910767-104910768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201891867	chr14:104910795-104910796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561470277	chr14:104910810-104910811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370458648	chr14:104910812-104910813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530117468	chr14:104910817-104910818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28398930	chr14:104910820-104910821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28540712	chr14:104910827-104910828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104904000-104912600	Weak transcription	Gastric	stomach
2	chr14:104910000-104912400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:104910600-104912400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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