Variant report

Variant	nsv521691
Chromosome Location	chr12:22280926-22281269
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	chr12:22279739..22281752-chr12:22287277..22289242,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2970797	chr12:22280926-22280927	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200145995	chr12:22280959-22280960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562148069	chr12:22280991-22280992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs531462772	chr12:22280998-22280999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548095710	chr12:22281025-22281026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs76691013	chr12:22281052-22281053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185184489	chr12:22281086-22281087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs533728637	chr12:22281117-22281118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs558634579	chr12:22281151-22281152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs369475159	chr12:22281155-22281156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191125785	chr12:22281159-22281160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs373650387	chr12:22281179-22281180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs547605613	chr12:22281190-22281191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs112502789	chr12:22281217-22281218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75927552	chr12:22281225-22281226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs558949918	chr12:22281251-22281252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538008355	chr12:22281255-22281256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs36085902	chr12:22281267-22281268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs7968893	chr12:22281269-22281270	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22280800-22281400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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