Variant report

Variant	esv3439949
Chromosome Location	chr12:104127600-104128083
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	chr12:104126083..104127823-chr12:104129253..104131944,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553302981	chr12:104127626-104127627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145046343	chr12:104127639-104127640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36071014	chr12:104127660-104127661	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34614451	chr12:104127665-104127666	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140622148	chr12:104127680-104127681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145756035	chr12:104127692-104127693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555588889	chr12:104127716-104127717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572455531	chr12:104127736-104127737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541534522	chr12:104127776-104127777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114675872	chr12:104127778-104127779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533347835	chr12:104127787-104127788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546145379	chr12:104127828-104127829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542336710	chr12:104127888-104127889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531418206	chr12:104127904-104127905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561016752	chr12:104127940-104127941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548328791	chr12:104127946-104127947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561634843	chr12:104127959-104127960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184321454	chr12:104127989-104127990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577340829	chr12:104128002-104128003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552977975	chr12:104128011-104128012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547081916	chr12:104128016-104128017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570148907	chr12:104128018-104128019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539939054	chr12:104128019-104128020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368979498	chr12:104128030-104128031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112015591	chr12:104128050-104128051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368949452	chr12:104128056-104128057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550229123	chr12:104128062-104128063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570295481	chr12:104128070-104128071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104125200-104138800	Weak transcription	Aorta	Aorta
2	chr12:104126200-104128400	Strong transcription	Spleen	Spleen

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