Variant report

Variant	nsv983460
Chromosome Location	chr12:38917615-38923261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:38917479..38920369-chr12:38920412..38922084,2	K562	blood:
2	chr12:38917479..38920369-chr12:38920412..38922084,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562960441	chr12:38919831-38919832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2730907	chr12:38919869-38919870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562180109	chr12:38919885-38919886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551565379	chr12:38919902-38919903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147984482	chr12:38919912-38919913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74087079	chr12:38919934-38919935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141612546	chr12:38919983-38919984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374560988	chr12:38920006-38920007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188122253	chr12:38920020-38920021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181347128	chr12:38920137-38920138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569735890	chr12:38920141-38920142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185276498	chr12:38920173-38920174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113653600	chr12:38920197-38920198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570004484	chr12:38920204-38920205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181661012	chr12:38920218-38920219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2730908	chr12:38920247-38920248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375743515	chr12:38920256-38920257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574358320	chr12:38920266-38920267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7976704	chr12:38920327-38920328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563228698	chr12:38920355-38920356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12580227	chr12:38920421-38920422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545626504	chr12:38920447-38920448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565194825	chr12:38920449-38920450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138341293	chr12:38920489-38920490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559129969	chr12:38920491-38920492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547358823	chr12:38920567-38920568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144076055	chr12:38920639-38920640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530070778	chr12:38920645-38920646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549786674	chr12:38920655-38920656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187294756	chr12:38920657-38920658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538446237	chr12:38920673-38920674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552813285	chr12:38920711-38920712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192405956	chr12:38920762-38920763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377365395	chr12:38920810-38920811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147309437	chr12:38920841-38920842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183802126	chr12:38920881-38920882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185503279	chr12:38920924-38920925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574466671	chr12:38920930-38920931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189672243	chr12:38920931-38920932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568125027	chr12:38920955-38920956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1393536	chr12:38920956-38920957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558847147	chr12:38920958-38920959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1393537	chr12:38920961-38920962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs140916452	chr12:38920971-38920972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182719485	chr12:38920982-38920983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75801959	chr12:38920996-38920997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2730909	chr12:38921000-38921001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530034715	chr12:38921034-38921035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550189035	chr12:38921043-38921044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577009067	chr12:38921063-38921064	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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	chr12:38919800-38922000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:38921400-38921800	Enhancers	HUES48 Cell Line	embryonic stem cell

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