Variant report

Variant	esv3482818
Chromosome Location	chr12:11113638-11114321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 100 )

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	rs114206867	chr12:11113648-11113649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145009868	chr12:11113649-11113650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542803329	chr12:11113682-11113683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562494412	chr12:11113734-11113735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559536454	chr12:11113782-11113783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116462212	chr12:11113792-11113793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369155985	chr12:11113832-11113833	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551030992	chr12:11113840-11113841	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148684031	chr12:11113902-11113903	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115944869	chr12:11113911-11113912	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541190562	chr12:11113917-11113918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186119427	chr12:11113926-11113927	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190530812	chr12:11113944-11113945	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16926141	chr12:11113945-11113946	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374491467	chr12:11114012-11114013	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556029585	chr12:11114034-11114035	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569433566	chr12:11114035-11114036	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375687091	chr12:11114077-11114078	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12827604	chr12:11114115-11114116	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144523329	chr12:11114117-11114118	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558262165	chr12:11114144-11114145	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563615871	chr12:11114277-11114278	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182716773	chr12:11114299-11114300	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs527450832	chr12:11114316-11114317	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11095200-11148800	Weak transcription	HepG2	liver
2	chr12:11095600-11114000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:11095600-11121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:11100800-11134200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:11102000-11114000	Weak transcription	Ovary	ovary
6	chr12:11102000-11114200	Weak transcription	Pancreas	Pancrea
7	chr12:11102000-11121200	Weak transcription	Gastric	stomach
8	chr12:11102000-11122600	Weak transcription	Spleen	Spleen
9	chr12:11102000-11127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:11102000-11135600	Weak transcription	Aorta	Aorta
11	chr12:11105600-11121200	Weak transcription	Left Ventricle	heart
12	chr12:11105600-11121200	Weak transcription	Psoas Muscle	Psoas
13	chr12:11106000-11121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:11106400-11121200	Weak transcription	Placenta	Placenta
15	chr12:11108800-11126000	Weak transcription	Primary B cells from cord blood	blood
16	chr12:11110000-11128600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:11110200-11120000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:11110400-11113800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:11110600-11127200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:11111000-11114000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:11111400-11116000	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:11111400-11123600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:11111600-11121200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:11111800-11142800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:11112000-11114000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:11112000-11114000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:11112000-11115200	Weak transcription	Fetal Kidney	kidney
28	chr12:11112400-11114000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:11112400-11114200	Enhancers	Primary T cells from cord blood	blood
30	chr12:11112400-11114200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:11112400-11114200	Weak transcription	Fetal Intestine Small	intestine
32	chr12:11112600-11113800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:11112600-11113800	Enhancers	Brain Cingulate Gyrus	brain
34	chr12:11112600-11113800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:11112600-11114000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:11112600-11114000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:11112600-11114000	Enhancers	Dnd41	blood
38	chr12:11112600-11114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr12:11112600-11114200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:11112600-11114400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:11113000-11114200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:11113000-11114400	Enhancers	Primary B cells from peripheral blood	blood
43	chr12:11113200-11113800	Weak transcription	GM12878-XiMat	blood
44	chr12:11113400-11113800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:11113400-11113800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:11113400-11114800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr12:11113600-11113800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:11113600-11113800	Enhancers	Brain Angular Gyrus	brain
49	chr12:11113600-11113800	Enhancers	Lung	lung
50	chr12:11113600-11114000	Enhancers	Primary T cells fromperipheralblood	blood

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