Variant report

Variant	esv2471634
Chromosome Location	chr12:25263472-25264960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374681780	chr12:25263483-25263484	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369041115	chr12:25263520-25263521	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574567664	chr12:25263529-25263530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568469639	chr12:25263576-25263577	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544041059	chr12:25263584-25263585	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535552824	chr12:25263609-25263610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74073307	chr12:25263639-25263640	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs193019608	chr12:25263641-25263642	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184488455	chr12:25263681-25263682	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74073308	chr12:25263693-25263694	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1683160	chr12:25263751-25263752	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189356287	chr12:25263794-25263795	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76426238	chr12:25263832-25263833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191241263	chr12:25263838-25263839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7134616	chr12:25263890-25263891	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs184107039	chr12:25263901-25263902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138172442	chr12:25263904-25263905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188454364	chr12:25263931-25263932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142860199	chr12:25263946-25263947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4963848	chr12:25263951-25263952	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546726271	chr12:25264022-25264023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568435089	chr12:25264036-25264037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181599510	chr12:25264055-25264056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531090524	chr12:25264116-25264117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185027461	chr12:25264121-25264122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190683112	chr12:25264152-25264153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145035177	chr12:25264157-25264158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17387019	chr12:25264259-25264260	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs138973454	chr12:25264321-25264322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201878595	chr12:25264338-25264339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573463615	chr12:25264356-25264357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534501356	chr12:25264380-25264381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552733199	chr12:25264423-25264424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141508953	chr12:25264479-25264480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371885133	chr12:25264514-25264515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541972495	chr12:25264530-25264531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563393029	chr12:25264551-25264552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116901987	chr12:25264587-25264588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546028199	chr12:25264594-25264595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564258908	chr12:25264605-25264606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150916219	chr12:25264652-25264653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540506250	chr12:25264663-25264664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374677766	chr12:25264673-25264674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368555234	chr12:25264674-25264675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146942345	chr12:25264723-25264724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181936193	chr12:25264727-25264728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372660859	chr12:25264772-25264773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34978943	chr12:25264792-25264793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34579315	chr12:25264793-25264794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199556179	chr12:25264849-25264850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25209400-25264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:25215000-25265000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:25230000-25264600	Strong transcription	Fetal Thymus	thymus
4	chr12:25232200-25263600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:25238600-25265200	Weak transcription	Lung	lung
6	chr12:25246400-25264000	Weak transcription	Ovary	ovary
7	chr12:25248600-25264400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:25251800-25274600	Weak transcription	Pancreas	Pancrea
9	chr12:25252200-25264000	Weak transcription	Spleen	Spleen
10	chr12:25254200-25263600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:25254200-25263800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:25254200-25263800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:25256000-25265200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:25257000-25264800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:25257400-25264800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:25259800-25263800	Strong transcription	Primary hematopoietic stem cells	blood
17	chr12:25259800-25264400	Strong transcription	Primary B cells from cord blood	blood
18	chr12:25260000-25263600	Strong transcription	Primary T cells from cord blood	blood
19	chr12:25260000-25263600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:25260200-25263600	Strong transcription	Thymus	Thymus
21	chr12:25260800-25263600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:25261000-25263800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:25261000-25264000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr12:25261000-25265000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:25261000-25268400	Weak transcription	Liver	Liver
26	chr12:25261200-25263600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:25262000-25263600	Strong transcription	GM12878-XiMat	blood
28	chr12:25262200-25263800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:25262200-25263800	Weak transcription	Dnd41	blood
30	chr12:25262200-25264800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:25262200-25265000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:25262400-25264000	Weak transcription	Adipose Nuclei	Adipose
33	chr12:25262600-25265000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:25262800-25266200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:25263200-25263800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:25263200-25266000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:25263600-25265200	Weak transcription	Primary T cells from cord blood	blood
38	chr12:25263600-25265400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:25263600-25265400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:25263600-25267600	Weak transcription	Thymus	Thymus
41	chr12:25263600-25268600	Weak transcription	GM12878-XiMat	blood
42	chr12:25263800-25265400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:25263800-25265400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:25263800-25265600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:25263800-25267400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:25263800-25288800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:25264000-25265800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:25264400-25266000	Weak transcription	Primary B cells from cord blood	blood
49	chr12:25264400-25266000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:25264600-25266200	Weak transcription	Fetal Thymus	thymus

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