Variant report

Variant	nsv524903
Chromosome Location	chr12:59420919-59422668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17121877	chr12:59420919-59420920	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564333142	chr12:59420943-59420944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200788224	chr12:59420954-59420955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145926082	chr12:59421005-59421006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187637721	chr12:59421008-59421009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190035021	chr12:59421026-59421027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75490383	chr12:59421099-59421100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55670466	chr12:59421110-59421111	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11172875	chr12:59421181-59421182	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539161117	chr12:59421226-59421227	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140188182	chr12:59421240-59421241	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572788076	chr12:59421265-59421266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568983735	chr12:59421266-59421267	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535329681	chr12:59421321-59421322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182630079	chr12:59421430-59421431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187355836	chr12:59421433-59421434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542407295	chr12:59421457-59421458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563735219	chr12:59421461-59421462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2371980	chr12:59421464-59421465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192255333	chr12:59421481-59421482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184367715	chr12:59421511-59421512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12298451	chr12:59421512-59421513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546476321	chr12:59421520-59421521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561617410	chr12:59421522-59421523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529173403	chr12:59421632-59421633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10877202	chr12:59421672-59421673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73336616	chr12:59421713-59421714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370383613	chr12:59421714-59421715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547787356	chr12:59421732-59421733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17626131	chr12:59421734-59421735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188947953	chr12:59421758-59421759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566441019	chr12:59421789-59421790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533805686	chr12:59421951-59421952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555416682	chr12:59422060-59422061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575156089	chr12:59422071-59422072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193115965	chr12:59422072-59422073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536925804	chr12:59422083-59422084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1568303	chr12:59422084-59422085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184409357	chr12:59422109-59422110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546256998	chr12:59422162-59422163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189294417	chr12:59422217-59422218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181278898	chr12:59422241-59422242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17121884	chr12:59422281-59422282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184322277	chr12:59422301-59422302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188721282	chr12:59422303-59422304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544139590	chr12:59422331-59422332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114279146	chr12:59422332-59422333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61919549	chr12:59422354-59422355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551440187	chr12:59422374-59422375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566411025	chr12:59422380-59422381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59417600-59430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:59419200-59426400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:59420600-59421400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:59421400-59425200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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