Variant report

Variant	nsv557727
Chromosome Location	chr12:21330022-21332221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 91 )

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	rs4149046	chr12:21330022-21330023	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189925961	chr12:21330073-21330074	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568283161	chr12:21330074-21330075	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182759814	chr12:21330098-21330099	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368363312	chr12:21330157-21330158	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547694351	chr12:21330185-21330186	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17330253	chr12:21330211-21330212	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539009785	chr12:21330289-21330290	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558558519	chr12:21330308-21330309	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552198440	chr12:21330325-21330326	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4149047	chr12:21330338-21330339	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4149048	chr12:21330351-21330352	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs554703059	chr12:21330378-21330379	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574978927	chr12:21330406-21330407	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187841913	chr12:21330413-21330414	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193137864	chr12:21330452-21330453	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368118447	chr12:21330472-21330473	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560854946	chr12:21330482-21330483	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538179700	chr12:21330529-21330530	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577499610	chr12:21330592-21330593	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545791555	chr12:21330680-21330681	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4149049	chr12:21330687-21330688	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531422926	chr12:21330691-21330692	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568629512	chr12:21330734-21330735	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75741554	chr12:21330752-21330753	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541952253	chr12:21330784-21330785	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561707018	chr12:21330805-21330806	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538993609	chr12:21330833-21330834	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544502183	chr12:21330842-21330843	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183978248	chr12:21330969-21330970	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4149050	chr12:21330988-21330989	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570705460	chr12:21331003-21331004	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369889408	chr12:21331032-21331033	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386761044	chr12:21331057-21331058	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4149052	chr12:21331059-21331060	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs377163991	chr12:21331087-21331088	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4149053	chr12:21331135-21331136	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4149054	chr12:21331179-21331180	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147874287	chr12:21331212-21331213	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113068377	chr12:21331237-21331238	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141555703	chr12:21331238-21331239	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554097751	chr12:21331272-21331273	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577460298	chr12:21331289-21331290	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150417061	chr12:21331306-21331307	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556151536	chr12:21331331-21331332	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576131938	chr12:21331332-21331333	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541915392	chr12:21331360-21331361	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561808252	chr12:21331386-21331387	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs67496683	chr12:21331390-21331391	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397737356	chr12:21331395-21331396	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
Basal cell lymphoma	17053054	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
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
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	17550852	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21326800-21336800	Strong transcription	Liver	Liver

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