Variant report

Variant	esv3500163
Chromosome Location	chr12:11189085-11194383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 321 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542020692	chr12:11189091-11189092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143558314	chr12:11189101-11189102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530998288	chr12:11189111-11189112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2060704	chr12:11189130-11189131	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564217196	chr12:11189136-11189137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374512292	chr12:11189140-11189141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191594996	chr12:11189167-11189168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2060705	chr12:11189176-11189177	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs535350420	chr12:11189202-11189203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549290994	chr12:11189226-11189227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148052439	chr12:11189228-11189229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182878240	chr12:11189233-11189234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187165152	chr12:11189236-11189237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190054462	chr12:11189256-11189257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533804976	chr12:11189345-11189346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553441119	chr12:11189386-11189387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573489244	chr12:11189400-11189401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564007878	chr12:11189409-11189410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141116727	chr12:11189432-11189433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555635388	chr12:11189435-11189436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571662614	chr12:11189444-11189445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35586859	chr12:11189481-11189482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34373072	chr12:11189485-11189486	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs544381182	chr12:11189520-11189521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2708330	chr12:11189541-11189542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549711098	chr12:11189560-11189561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2708329	chr12:11189562-11189563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564628119	chr12:11189567-11189568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533226261	chr12:11189576-11189577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540633626	chr12:11189592-11189593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560327744	chr12:11189599-11189600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35729621	chr12:11189615-11189616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529302509	chr12:11189645-11189646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549326077	chr12:11189652-11189653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201328872	chr12:11189663-11189664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369747609	chr12:11189673-11189674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199686478	chr12:11189703-11189704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200763707	chr12:11189704-11189705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182299080	chr12:11189705-11189706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569175995	chr12:11189736-11189737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200412038	chr12:11189753-11189754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201408863	chr12:11189754-11189755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7953674	chr12:11189757-11189758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs7971282	chr12:11189760-11189761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs36051734	chr12:11189775-11189776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571321010	chr12:11189780-11189781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533611221	chr12:11189800-11189801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553821248	chr12:11189804-11189805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35972994	chr12:11189812-11189813	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs551863543	chr12:11189825-11189826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
3	chr12:11166000-11192000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11166200-11210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:11166600-11199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:11167400-11201800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:11168800-11201000	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:11168800-11205800	Weak transcription	Osteobl	bone
9	chr12:11169400-11201600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:11169400-11219400	Weak transcription	HUVEC	blood vessel
11	chr12:11169800-11198800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:11171000-11225600	Weak transcription	HSMMtube	muscle
13	chr12:11174400-11200800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:11174600-11192000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:11175000-11204600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:11176400-11203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:11176400-11211200	Weak transcription	Aorta	Aorta
18	chr12:11177000-11200200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:11178400-11201000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:11178400-11201000	Weak transcription	Brain Anterior Caudate	brain
21	chr12:11178400-11203400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:11178600-11191400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:11178800-11197400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:11179000-11190000	Weak transcription	Fetal Brain Female	brain
25	chr12:11179000-11191400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:11179000-11195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:11179000-11198200	Weak transcription	Placenta	Placenta
28	chr12:11179000-11201000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:11179000-11203400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:11179000-11223800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:11179200-11190800	Weak transcription	Fetal Lung	lung
32	chr12:11179200-11203200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:11179400-11222000	Weak transcription	Fetal Kidney	kidney
34	chr12:11180200-11203200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:11180600-11191800	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:11180600-11202600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:11181000-11190800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:11181000-11196200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:11181000-11196800	Weak transcription	Adipose Nuclei	Adipose
40	chr12:11181000-11197000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:11181000-11197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:11181000-11197400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:11181000-11198800	Weak transcription	HepG2	liver
44	chr12:11181000-11199000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:11181000-11201000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:11181000-11201000	Weak transcription	Left Ventricle	heart
47	chr12:11181000-11201000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:11181000-11202800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:11181000-11203400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:11181000-11217400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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