Variant report

Variant	esv3426603
Chromosome Location	chr12:104410365-104410654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543349431	chr12:104410368-104410369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540417088	chr12:104410403-104410404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549136524	chr12:104410421-104410422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60033863	chr12:104410422-104410423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs201450994	chr12:104410427-104410428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139103796	chr12:104410441-104410442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192876948	chr12:104410442-104410443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551525166	chr12:104410446-104410447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534512275	chr12:104410457-104410458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370042659	chr12:104410462-104410463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146701886	chr12:104410469-104410470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373893371	chr12:104410478-104410479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367696342	chr12:104410479-104410480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371476258	chr12:104410482-104410483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7397969	chr12:104410487-104410488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569034660	chr12:104410488-104410489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539380274	chr12:104410491-104410492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370216314	chr12:104410494-104410495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538348435	chr12:104410512-104410513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200826412	chr12:104410528-104410529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3037233	chr12:104410546-104410547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4964454	chr12:104410548-104410549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550246831	chr12:104410552-104410553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201617792	chr12:104410553-104410554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199748303	chr12:104410555-104410556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11111870	chr12:104410556-104410557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201364126	chr12:104410558-104410559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190317050	chr12:104410560-104410561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200955927	chr12:104410564-104410565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7397979	chr12:104410576-104410577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71440856	chr12:104410584-104410585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556408976	chr12:104410588-104410589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569933366	chr12:104410591-104410592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71440857	chr12:104410595-104410596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67788390	chr12:104410597-104410598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373949902	chr12:104410605-104410606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71432187	chr12:104410606-104410607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535671838	chr12:104410641-104410642	Weak transcription Strong 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
Acute lymphoblastic leukemia	21339820	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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104405600-104414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104405600-104414400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:104405600-104415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:104406400-104410400	Weak transcription	NHDF-Ad	bronchial
5	chr12:104406800-104417200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:104407000-104412600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:104407200-104410400	Weak transcription	HSMM	muscle
8	chr12:104408800-104410400	Weak transcription	Colonic Mucosa	Colon
9	chr12:104408800-104410600	Weak transcription	HMEC	breast
10	chr12:104408800-104416200	Weak transcription	Fetal Lung	lung
11	chr12:104408800-104417400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:104408800-104428000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:104408800-104442200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:104409000-104410600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:104409000-104416000	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:104409200-104411000	Weak transcription	Aorta	Aorta
17	chr12:104409200-104414600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:104409400-104416200	Weak transcription	Fetal Stomach	stomach
19	chr12:104409400-104421200	Weak transcription	Ovary	ovary
20	chr12:104410000-104415200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:104410000-104417600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:104410600-104411800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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