Variant report

Variant	nsv523367
Chromosome Location	chr12:20862939-20863573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11045399	chr12:20862939-20862940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149393058	chr12:20862943-20862944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549042281	chr12:20862960-20862961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113496544	chr12:20863012-20863013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534687792	chr12:20863107-20863108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116173586	chr12:20863108-20863109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372176424	chr12:20863134-20863135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181045930	chr12:20863140-20863141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1850015	chr12:20863157-20863158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534297966	chr12:20863181-20863182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539685843	chr12:20863202-20863203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556206980	chr12:20863216-20863217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375861591	chr12:20863227-20863228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144782171	chr12:20863256-20863257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71869444	chr12:20863295-20863296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73240463	chr12:20863306-20863307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12318044	chr12:20863320-20863321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572219016	chr12:20863324-20863325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571175319	chr12:20863373-20863374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541133187	chr12:20863393-20863394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564071543	chr12:20863396-20863397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183610068	chr12:20863405-20863406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544063969	chr12:20863433-20863434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189333989	chr12:20863453-20863454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10770708	chr12:20863469-20863470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549204007	chr12:20863472-20863473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112486994	chr12:20863484-20863485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35095236	chr12:20863549-20863550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12304822	chr12:20863555-20863556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571590091	chr12:20863556-20863557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537079046	chr12:20863558-20863559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11045400	chr12:20863569-20863570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1515777	chr12:20863573-20863574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20853200-20863200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:20860000-20881200	Weak transcription	Brain Hippocampus Middle	brain

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