Variant report

Variant	esv3388986
Chromosome Location	chr12:25229385-25231383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565506322	chr12:25229503-25229504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183453712	chr12:25229518-25229519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576036413	chr12:25229541-25229542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540175553	chr12:25229543-25229544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4963602	chr12:25229605-25229606	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs78717306	chr12:25229662-25229663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544049424	chr12:25229747-25229748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565836600	chr12:25229819-25229820	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147352988	chr12:25229832-25229833	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573148806	chr12:25229841-25229842	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577664818	chr12:25229868-25229869	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540501865	chr12:25229914-25229915	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75761974	chr12:25229982-25229983	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573968148	chr12:25230050-25230051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544427012	chr12:25230081-25230082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116677186	chr12:25230082-25230083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11047815	chr12:25230089-25230090	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs78616500	chr12:25230095-25230096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199902339	chr12:25230109-25230110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10536372	chr12:25230119-25230120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs33949902	chr12:25230120-25230121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11608505	chr12:25230121-25230122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572951936	chr12:25230133-25230134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376784693	chr12:25230143-25230144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11608519	chr12:25230145-25230146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112504300	chr12:25230149-25230150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368959327	chr12:25230153-25230154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10627418	chr12:25230154-25230155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs33942728	chr12:25230155-25230156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375769329	chr12:25230161-25230162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201514286	chr12:25230163-25230164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375736597	chr12:25230164-25230165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200297707	chr12:25230165-25230166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11610366	chr12:25230176-25230177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542513942	chr12:25230187-25230188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11047817	chr12:25230189-25230190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141326749	chr12:25230199-25230200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553192066	chr12:25230200-25230201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200990675	chr12:25230201-25230202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57883311	chr12:25230208-25230209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58795438	chr12:25230211-25230212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541646801	chr12:25230216-25230217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201754430	chr12:25230219-25230220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199841886	chr12:25230220-25230221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397691419	chr12:25230221-25230222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374341799	chr12:25230222-25230223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57491354	chr12:25230231-25230232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191408545	chr12:25230232-25230233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56976393	chr12:25230233-25230234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534289702	chr12:25230234-25230235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25209400-25264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:25210000-25262800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:25212000-25250800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:25214400-25245600	Weak transcription	Ovary	ovary
5	chr12:25214400-25251800	Weak transcription	Fetal Intestine Large	intestine
6	chr12:25215000-25265000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:25218600-25239200	Weak transcription	Fetal Intestine Small	intestine
8	chr12:25221600-25235800	Weak transcription	Liver	Liver
9	chr12:25222400-25236000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:25222800-25232200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:25223000-25238000	Weak transcription	Spleen	Spleen
12	chr12:25223400-25232200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:25223400-25235400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:25223600-25232000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:25223600-25232200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:25223600-25232200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:25224000-25232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:25224600-25230600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:25224600-25241600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:25225400-25232200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:25225400-25237800	Weak transcription	Lung	lung
22	chr12:25226000-25232000	Weak transcription	Dnd41	blood
23	chr12:25226600-25230400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:25226600-25232000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:25226600-25232200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:25226800-25230800	Weak transcription	Primary T cells from cord blood	blood
27	chr12:25227400-25251000	Weak transcription	Pancreas	Pancrea
28	chr12:25227600-25231800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:25228000-25230600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:25228000-25230600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:25228000-25232000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:25228200-25233000	Strong transcription	Primary B cells from cord blood	blood
33	chr12:25228400-25241200	Weak transcription	Stomach Mucosa	stomach
34	chr12:25228800-25236200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:25229000-25229800	Weak transcription	Fetal Thymus	thymus
36	chr12:25229000-25232000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:25229000-25237800	Weak transcription	Esophagus	oesophagus
38	chr12:25229000-25253000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:25229200-25230600	Weak transcription	GM12878-XiMat	blood
40	chr12:25229200-25231600	Weak transcription	Thymus	Thymus
41	chr12:25229200-25241400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:25229800-25230000	Genic enhancers	Fetal Thymus	thymus
43	chr12:25230000-25264600	Strong transcription	Fetal Thymus	thymus
44	chr12:25230400-25230800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:25230600-25231400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:25230600-25235200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:25230600-25240600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr12:25230600-25240600	Strong transcription	GM12878-XiMat	blood
49	chr12:25230800-25231000	Strong transcription	Primary T cells from cord blood	blood
50	chr12:25230800-25232000	Weak transcription	Primary T cells fromperipheralblood	blood

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