Variant report

Variant	esv3420626
Chromosome Location	chr12:40769285-40770433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40718929..40719819-chr12:40768166..40769419,3	MCF-7	breast:
2	chr12:40730058..40730795-chr12:40768301..40769589,4	MCF-7	breast:
3	chr12:40768243..40769926-chr12:40782774..40784277,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 57 )

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	rs577773248	chr12:40769285-40769286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578156259	chr12:40769333-40769334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560921265	chr12:40769342-40769343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544925549	chr12:40769349-40769350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560382462	chr12:40769419-40769420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572932843	chr12:40769491-40769492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565545044	chr12:40769531-40769532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372069367	chr12:40769582-40769583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374050321	chr12:40769602-40769603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11176298	chr12:40769619-40769620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71078240	chr12:40769620-40769621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11836100	chr12:40769621-40769622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11176299	chr12:40769647-40769648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375559231	chr12:40769658-40769659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367859936	chr12:40769659-40769660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57513597	chr12:40769666-40769667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58983162	chr12:40769716-40769717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71078241	chr12:40769718-40769719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370340176	chr12:40769719-40769720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371546043	chr12:40769735-40769736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374052788	chr12:40769749-40769750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367575265	chr12:40769755-40769756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371463178	chr12:40769759-40769760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12813918	chr12:40769766-40769767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11176300	chr12:40769768-40769769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58895938	chr12:40769770-40769771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40764600-40769800	Weak transcription	Primary B cells from cord blood	blood

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