Variant report

Variant	esv3505419
Chromosome Location	chr12:121070803-121071662
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	chr12:121071082..121074482-chr12:121074766..121077938,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565512090	chr12:121070846-121070847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527774170	chr12:121070896-121070897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539645909	chr12:121070923-121070924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114068699	chr12:121070927-121070928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561434830	chr12:121070928-121070929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12370780	chr12:121070973-121070974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550166469	chr12:121070999-121071000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569823950	chr12:121071000-121071001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532303560	chr12:121071004-121071005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368041615	chr12:121071009-121071010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564926852	chr12:121071012-121071013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185708504	chr12:121071059-121071060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12582813	chr12:121071100-121071101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188764500	chr12:121071114-121071115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534410682	chr12:121071135-121071136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554322437	chr12:121071159-121071160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11503156	chr12:121071180-121071181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568159201	chr12:121071213-121071214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145242373	chr12:121071218-121071219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572951016	chr12:121071237-121071238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370649514	chr12:121071258-121071259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555005677	chr12:121071259-121071260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556944287	chr12:121071262-121071263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11503157	chr12:121071401-121071402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545756556	chr12:121071419-121071420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559190074	chr12:121071433-121071434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375025656	chr12:121071485-121071486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9739200	chr12:121071497-121071498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60241968	chr12:121071551-121071552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202187657	chr12:121071626-121071627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531702097	chr12:121071633-121071634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121069200-121072600	Weak transcription	Brain Angular Gyrus	brain

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