Variant report

Variant	esv3384730
Chromosome Location	chr12:75673085-75677383
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	chr12:75675181..75678021-chr12:75682376..75684656,2	MCF-7	breast:
2	chr12:75654290..75657057-chr12:75676072..75677955,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186648005	chr12:75673088-75673089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562245037	chr12:75673096-75673097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139457048	chr12:75673105-75673106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542033026	chr12:75673109-75673110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548613129	chr12:75673155-75673156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377103101	chr12:75673156-75673157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562228693	chr12:75673157-75673158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74110640	chr12:75673193-75673194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566352789	chr12:75673200-75673201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368764060	chr12:75673203-75673204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144136686	chr12:75673262-75673263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369478911	chr12:75673295-75673296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533375134	chr12:75673299-75673300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550252969	chr12:75673310-75673311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570186638	chr12:75673329-75673330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149149843	chr12:75673341-75673342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376537788	chr12:75673360-75673361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11180441	chr12:75673379-75673380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs554785566	chr12:75673422-75673423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539337260	chr12:75673429-75673430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568244939	chr12:75673538-75673539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534134271	chr12:75673541-75673542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553789467	chr12:75673542-75673543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576380733	chr12:75673685-75673686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545415670	chr12:75673709-75673710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555805223	chr12:75673714-75673715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190603324	chr12:75673737-75673738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117665079	chr12:75673747-75673748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566339877	chr12:75673750-75673751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562354308	chr12:75673773-75673774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547340679	chr12:75673833-75673834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182898100	chr12:75673910-75673911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557448868	chr12:75673911-75673912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74110641	chr12:75673957-75673958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541670680	chr12:75674001-75674002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74110642	chr12:75674034-75674035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535434425	chr12:75674066-75674067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146434785	chr12:75674067-75674068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556328160	chr12:75674081-75674082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188649133	chr12:75674096-75674097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193275565	chr12:75674116-75674117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529438029	chr12:75674140-75674141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564482715	chr12:75674147-75674148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548084001	chr12:75674187-75674188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568204370	chr12:75674190-75674191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533748659	chr12:75674192-75674193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140727762	chr12:75674226-75674227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570427333	chr12:75674234-75674235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182957884	chr12:75674236-75674237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539819168	chr12:75674241-75674242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75671800-75674400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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