Variant report

Variant	esv3484530
Chromosome Location	chr12:25285356-25285967
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	chr12:25283942..25285554-chr12:25289504..25292032,2	K562	blood:
2	chr12:25284083..25286578-chr6:21600707..21602481,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000220771	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570442486	chr12:25285422-25285423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528063344	chr12:25285423-25285424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150141755	chr12:25285464-25285465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117186797	chr12:25285487-25285488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369542754	chr12:25285519-25285520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556735461	chr12:25285526-25285527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2883028	chr12:25285557-25285558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185783886	chr12:25285619-25285620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs56031509	chr12:25285639-25285640	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554857472	chr12:25285644-25285645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573170391	chr12:25285649-25285650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190098011	chr12:25285717-25285718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573690661	chr12:25285730-25285731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370107187	chr12:25285746-25285747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373478577	chr12:25285786-25285787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73081739	chr12:25285789-25285790	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs199503256	chr12:25285820-25285821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563055481	chr12:25285828-25285829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531152218	chr12:25285843-25285844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550881507	chr12:25285891-25285892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs578256611	chr12:25285901-25285902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545740179	chr12:25285944-25285945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183058541	chr12:25285951-25285952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2352782	chr12:25285958-25285959	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:105)

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
Breast cancer	17133270	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Cancer	20164920	CNVD
Gastric cancer	22315472	CNVD
Adenocarcinoma	19001599	CNVD
Non-small cell lung cancer	19001599	CNVD
Pancreatic cancer	20981101	CNVD
Squamous cell cancer	19001599	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung cancer	18379350	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic cancer	21811562	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25263800-25288800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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