Variant report

Variant	esv3326805
Chromosome Location	chr12:73387685-73390083
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573783684	chr12:73387688-73387689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368782970	chr12:73387734-73387735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541034326	chr12:73387754-73387755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559275682	chr12:73387778-73387779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572568227	chr12:73387874-73387875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185308514	chr12:73387875-73387876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544940016	chr12:73387883-73387884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190183298	chr12:73387903-73387904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530647669	chr12:73387933-73387934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371060627	chr12:73388004-73388005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549157954	chr12:73388006-73388007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567410116	chr12:73388007-73388008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375323065	chr12:73388009-73388010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528155451	chr12:73388015-73388016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546623909	chr12:73388134-73388135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75250796	chr12:73388143-73388144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181305304	chr12:73388181-73388182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534979674	chr12:73388185-73388186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73156321	chr12:73388186-73388187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570323621	chr12:73388189-73388190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537283962	chr12:73388190-73388191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555497607	chr12:73388209-73388210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12306414	chr12:73388235-73388236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534765260	chr12:73388238-73388239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574920777	chr12:73388251-73388252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552963854	chr12:73388335-73388336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577985223	chr12:73388391-73388392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565745405	chr12:73388392-73388393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368289126	chr12:73388420-73388421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575486923	chr12:73388436-73388437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10879529	chr12:73388451-73388452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs10879530	chr12:73388462-73388463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186499735	chr12:73388497-73388498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546685358	chr12:73388570-73388571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576968652	chr12:73388587-73388588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564959933	chr12:73388602-73388603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545925979	chr12:73388619-73388620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559056705	chr12:73388644-73388645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572820915	chr12:73388656-73388657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532055999	chr12:73388666-73388667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550539910	chr12:73388746-73388747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188205340	chr12:73388762-73388763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143882012	chr12:73388780-73388781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541740427	chr12:73388796-73388797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7488853	chr12:73388836-73388837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530613877	chr12:73388885-73388886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7488856	chr12:73388888-73388889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7486458	chr12:73388894-73388895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376542679	chr12:73388916-73388917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550313156	chr12:73388956-73388957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73376800-73394200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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