Variant report

Variant	nsv1041345
Chromosome Location	chr12:21066155-21079897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 514 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370210115	chr12:21066155-21066156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151301668	chr12:21066175-21066176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539059201	chr12:21066178-21066179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201327440	chr12:21066179-21066180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532431944	chr12:21066181-21066182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373388341	chr12:21066195-21066196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556750918	chr12:21066225-21066226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574945673	chr12:21066246-21066247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552126432	chr12:21066251-21066252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568992839	chr12:21066267-21066268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377439465	chr12:21066270-21066271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183199725	chr12:21066359-21066360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186298589	chr12:21066379-21066380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140590428	chr12:21066438-21066439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77207195	chr12:21066488-21066489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550632816	chr12:21066579-21066580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189743743	chr12:21066596-21066597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150487544	chr12:21066599-21066600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7134708	chr12:21066609-21066610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73233644	chr12:21066623-21066624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552929076	chr12:21066680-21066681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551740701	chr12:21066692-21066693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565528303	chr12:21066717-21066718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542275663	chr12:21066787-21066788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560405271	chr12:21066844-21066845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558972102	chr12:21066860-21066861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551131658	chr12:21066877-21066878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138495670	chr12:21066889-21066890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536714334	chr12:21066908-21066909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567099761	chr12:21066933-21066934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540364474	chr12:21066957-21066958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539312415	chr12:21066971-21066972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534917911	chr12:21066981-21066982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144630098	chr12:21067003-21067004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558897105	chr12:21067074-21067075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577455604	chr12:21067075-21067076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575763066	chr12:21067104-21067105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75081911	chr12:21067119-21067120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556710926	chr12:21067148-21067149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182084044	chr12:21067258-21067259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138582915	chr12:21067269-21067270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9651814	chr12:21067274-21067275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572749407	chr12:21067303-21067304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187832574	chr12:21067322-21067323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565564511	chr12:21067350-21067351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9651815	chr12:21067390-21067391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35873256	chr12:21067518-21067519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551216184	chr12:21067568-21067569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561431585	chr12:21067587-21067588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576027745	chr12:21067602-21067603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21058200-21068400	Weak transcription	Liver	Liver
2	chr12:21058400-21080400	Weak transcription	A549	lung
3	chr12:21068400-21068600	Strong transcription	Liver	Liver
4	chr12:21068600-21069800	Weak transcription	Liver	Liver
5	chr12:21069800-21070000	Genic enhancers	Liver	Liver
6	chr12:21070000-21070200	Enhancers	Liver	Liver
7	chr12:21070200-21070400	Flanking Active TSS	Liver	Liver
8	chr12:21070400-21070600	Enhancers	Liver	Liver
9	chr12:21070600-21080600	Weak transcription	Liver	Liver

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