Variant report

Variant	esv3505928
Chromosome Location	chr12:34206535-34217833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10-1	chr12:34208992-34209394	ENSG00000256538
2	lnc-ALG10-1	chr12:34209496-34209675	ENSG00000256538
3	lnc-ALG10-1	chr12:34209496-34209704	XLOC_009707
4	lnc-ALG10-1	chr12:34208992-34209394	XLOC_009707

Variant related genes	Relation type
PPARGC1A	miRNA target sites

Extended variants
information (count: 82 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116637019	chr12:34207487-34207488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567346206	chr12:34207606-34207607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535878176	chr12:34207612-34207613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190939515	chr12:34207630-34207631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115505314	chr12:34207663-34207664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74073764	chr12:34207693-34207694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7358760	chr12:34207763-34207764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567376493	chr12:34207764-34207765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141614205	chr12:34207778-34207779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541607345	chr12:34207807-34207808	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554808570	chr12:34207811-34207812	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112632213	chr12:34207877-34207878	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368575568	chr12:34207879-34207880	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531956995	chr12:34207924-34207925	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs11609340	chr12:34207948-34207949	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs367825097	chr12:34207970-34207971	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556194905	chr12:34207995-34207996	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371179141	chr12:34208069-34208070	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543457983	chr12:34208076-34208077	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73090049	chr12:34208077-34208078	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs143125751	chr12:34208091-34208092	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545356164	chr12:34208105-34208106	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183258217	chr12:34208117-34208118	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538269480	chr12:34208167-34208168	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527534183	chr12:34208231-34208232	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371979136	chr12:34208264-34208265	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553417461	chr12:34208298-34208299	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs111589693	chr12:34208311-34208312	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs571794843	chr12:34208332-34208333	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567252236	chr12:34208345-34208346	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs201442916	chr12:34208366-34208367	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529766018	chr12:34208389-34208390	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs140139176	chr12:34208411-34208412	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11053076	chr12:34208418-34208419	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369416934	chr12:34208419-34208420	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs372413390	chr12:34208425-34208426	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375400979	chr12:34208437-34208438	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs34703499	chr12:34208445-34208446	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548764576	chr12:34208487-34208488	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538222573	chr12:34208497-34208498	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs7980744	chr12:34208498-34208499	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186358984	chr12:34208501-34208502	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs75932601	chr12:34208563-34208564	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs534918737	chr12:34208618-34208619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534524862	chr12:34208680-34208681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367857225	chr12:34208712-34208713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555101071	chr12:34208715-34208716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12308600	chr12:34208791-34208792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537518920	chr12:34208799-34208800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557477227	chr12:34208805-34208806	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34207400-34207800	Enhancers	Dnd41	blood
2	chr12:34207600-34208000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:34207800-34208000	Flanking Active TSS	Dnd41	blood
4	chr12:34207800-34208400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:34207800-34208600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:34207800-34209400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:34208000-34208200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr12:34208000-34208200	Enhancers	Dnd41	blood
9	chr12:34208000-34208400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:34208000-34208400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:34208000-34208600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:34208200-34208400	Flanking Active TSS	Dnd41	blood
13	chr12:34208200-34208600	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr12:34208400-34209000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:34208400-34209000	Enhancers	Dnd41	blood

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