Variant report

Variant	nsv976604
Chromosome Location	chr12:38864117-38868737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564850100	chr12:38864175-38864176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12830095	chr12:38864199-38864200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs112177963	chr12:38864256-38864257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538992438	chr12:38864264-38864265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566274641	chr12:38864283-38864284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144018890	chr12:38864294-38864295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369165556	chr12:38864301-38864302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548909170	chr12:38864330-38864331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534603409	chr12:38864339-38864340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570297359	chr12:38864341-38864342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183726656	chr12:38864362-38864363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7964753	chr12:38864432-38864433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188093437	chr12:38864441-38864442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576540829	chr12:38864465-38864466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545349250	chr12:38864515-38864516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552692676	chr12:38864630-38864631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78895449	chr12:38864639-38864640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181325229	chr12:38864649-38864650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561645607	chr12:38864675-38864676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370783004	chr12:38864689-38864690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186335082	chr12:38864717-38864718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141076206	chr12:38864740-38864741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150273125	chr12:38864744-38864745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373303415	chr12:38864749-38864750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532647137	chr12:38864786-38864787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115802251	chr12:38864794-38864795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534781076	chr12:38864796-38864797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553595219	chr12:38864798-38864799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529790906	chr12:38867891-38867892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549295920	chr12:38867893-38867894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs569094210	chr12:38867898-38867899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs542474821	chr12:38867942-38867943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538066057	chr12:38867957-38867958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551825558	chr12:38867996-38867997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369323907	chr12:38868012-38868013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534155960	chr12:38868025-38868026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188338226	chr12:38868109-38868110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191096811	chr12:38868113-38868114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536527192	chr12:38868114-38868115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556530399	chr12:38868125-38868126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs576268074	chr12:38868139-38868140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs145814921	chr12:38868151-38868152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs544893804	chr12:38868152-38868153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs564945621	chr12:38868163-38868164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572040224	chr12:38868175-38868176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs144371967	chr12:38868176-38868177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs147803078	chr12:38868184-38868185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552841044	chr12:38868198-38868199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38862600-38864200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:38863800-38864400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:38863800-38864800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:38867800-38868200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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