Variant report

Variant	esv7410
Chromosome Location	chr12:12252594-12254825
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	chr12:12242492..12245826-chr12:12250715..12252862,3	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 88 )

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	rs537554130	chr12:12252601-12252602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555865315	chr12:12252608-12252609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190517309	chr12:12252610-12252611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565691388	chr12:12252616-12252617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538195819	chr12:12252618-12252619	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113308898	chr12:12252719-12252720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535213238	chr12:12252773-12252774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567202387	chr12:12252790-12252791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182164716	chr12:12252886-12252887	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578192238	chr12:12252970-12252971	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545327819	chr12:12252971-12252972	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35591290	chr12:12253013-12253014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145464009	chr12:12253044-12253045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183614684	chr12:12253091-12253092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543134224	chr12:12253119-12253120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561423080	chr12:12253132-12253133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144414143	chr12:12253153-12253154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568715304	chr12:12253165-12253166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572953583	chr12:12253186-12253187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552562255	chr12:12253195-12253196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547562269	chr12:12253196-12253197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146502555	chr12:12253233-12253234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533260083	chr12:12253249-12253250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569245166	chr12:12253306-12253307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551349297	chr12:12253310-12253311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570084247	chr12:12253321-12253322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533958021	chr12:12253332-12253333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565441657	chr12:12253333-12253334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545123017	chr12:12253336-12253337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386760450	chr12:12253338-12253339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542935827	chr12:12253345-12253346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530900390	chr12:12253359-12253360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4763270	chr12:12253360-12253361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567750668	chr12:12253361-12253362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532935517	chr12:12253370-12253371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143009395	chr12:12253372-12253373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553531699	chr12:12253375-12253376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112385468	chr12:12253377-12253378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188277557	chr12:12253390-12253391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539334801	chr12:12253400-12253401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557341982	chr12:12253409-12253410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575660138	chr12:12253411-12253412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554690875	chr12:12253415-12253416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574582903	chr12:12253420-12253421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536069100	chr12:12253421-12253422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573398799	chr12:12253435-12253436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552769242	chr12:12253448-12253449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148202795	chr12:12253449-12253450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11054688	chr12:12253453-12253454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141190838	chr12:12253459-12253460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	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 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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12225000-12255000	Weak transcription	Small Intestine	intestine
2	chr12:12232800-12257000	Weak transcription	HSMMtube	muscle
3	chr12:12234800-12259600	Weak transcription	Aorta	Aorta
4	chr12:12235400-12260200	Weak transcription	Gastric	stomach
5	chr12:12235400-12260800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:12237400-12259800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:12240400-12254200	Weak transcription	Stomach Mucosa	stomach
9	chr12:12240600-12256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:12241000-12260600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:12241000-12273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:12241200-12256800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:12241200-12261000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:12241400-12272600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:12241800-12260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:12242000-12257000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:12245600-12253600	Weak transcription	Colonic Mucosa	Colon
18	chr12:12245600-12257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:12245600-12260400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:12245600-12260400	Weak transcription	Fetal Brain Female	brain
21	chr12:12245600-12260600	Weak transcription	Psoas Muscle	Psoas
22	chr12:12245800-12255600	Weak transcription	Brain Substantia Nigra	brain
23	chr12:12245800-12256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:12245800-12256600	Weak transcription	Lung	lung
25	chr12:12245800-12260400	Weak transcription	Brain Germinal Matrix	brain
26	chr12:12245800-12260400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:12245800-12260600	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:12245800-12263800	Weak transcription	Pancreas	Pancrea
29	chr12:12245800-12266200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:12246000-12254400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:12246000-12256600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:12246200-12253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:12246200-12253600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:12246200-12256000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:12246200-12260400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:12246200-12260400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:12246400-12257000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:12246400-12272000	Weak transcription	Osteobl	bone
39	chr12:12247600-12261400	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:12248200-12271800	Weak transcription	Fetal Kidney	kidney
41	chr12:12248400-12260800	Weak transcription	Hela-S3	cervix
42	chr12:12248400-12261000	Weak transcription	NH-A	brain
43	chr12:12248800-12256600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:12248800-12256600	Weak transcription	Fetal Stomach	stomach
45	chr12:12249200-12256000	Weak transcription	Fetal Intestine Small	intestine
46	chr12:12249400-12256600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:12250000-12261400	Weak transcription	Primary T cells from cord blood	blood
48	chr12:12250200-12254400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:12250800-12252800	Enhancers	HUVEC	blood vessel
50	chr12:12250800-12260600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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