Variant report

Variant	esv3449211
Chromosome Location	chr12:106072172-106074120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192860573	chr12:106072214-106072215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149584690	chr12:106072225-106072226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370471239	chr12:106072269-106072270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183060596	chr12:106072301-106072302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186987152	chr12:106072359-106072360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4964155	chr12:106072384-106072385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144359184	chr12:106072429-106072430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148350861	chr12:106072469-106072470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527501729	chr12:106072476-106072477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547531085	chr12:106072477-106072478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191726348	chr12:106072533-106072534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370730732	chr12:106072587-106072588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12370144	chr12:106072591-106072592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538044091	chr12:106072665-106072666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552318610	chr12:106072666-106072667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376097187	chr12:106072682-106072683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368308880	chr12:106072693-106072694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183471767	chr12:106072696-106072697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80014589	chr12:106072741-106072742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146382829	chr12:106072742-106072743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542986303	chr12:106072880-106072881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200164826	chr12:106072881-106072882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376288838	chr12:106072882-106072883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193217840	chr12:106072899-106072900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545479483	chr12:106072900-106072901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12299844	chr12:106072901-106072902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs75732975	chr12:106072909-106072910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370449097	chr12:106072913-106072914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374295804	chr12:106072916-106072917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539496620	chr12:106072925-106072926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368085712	chr12:106072931-106072932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371943319	chr12:106072932-106072933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375615442	chr12:106072934-106072935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373591752	chr12:106072936-106072937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368248399	chr12:106072937-106072938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs66874688	chr12:106072943-106072944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375506638	chr12:106072951-106072952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11112653	chr12:106072958-106072959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11112654	chr12:106072959-106072960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369839618	chr12:106072960-106072961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377401869	chr12:106072962-106072963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372706004	chr12:106072964-106072965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370149085	chr12:106072973-106072974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12824133	chr12:106072980-106072981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12822485	chr12:106072981-106072982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145301182	chr12:106072987-106072988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374306541	chr12:106072994-106072995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113948733	chr12:106072997-106072998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11112655	chr12:106073000-106073001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576121640	chr12:106073004-106073005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106066600-106076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:106068200-106076200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:106069200-106072400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:106069400-106072800	Enhancers	Psoas Muscle	Psoas
5	chr12:106070600-106072400	Enhancers	Fetal Muscle Leg	muscle
6	chr12:106071200-106072200	Weak transcription	Right Atrium	heart
7	chr12:106071400-106075000	Weak transcription	HUVEC	blood vessel
8	chr12:106072000-106072600	Weak transcription	Left Ventricle	heart
9	chr12:106072200-106072400	Enhancers	Right Atrium	heart
10	chr12:106072400-106074000	Weak transcription	Right Atrium	heart
11	chr12:106072600-106072800	Enhancers	Placenta	Placenta
12	chr12:106072600-106072800	Enhancers	Left Ventricle	heart

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