Variant report

Variant	esv19512
Chromosome Location	chr12:12130988-12147206
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	chr12:11801874..11803693-chr12:12145679..12148556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	chromatin interactions

Extended variants
information (count: 654 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368163291	chr12:12131058-12131059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11054578	chr12:12131069-12131070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552757543	chr12:12131112-12131113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570663736	chr12:12131143-12131144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538156468	chr12:12131152-12131153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183864179	chr12:12131192-12131193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568555666	chr12:12131203-12131204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188414315	chr12:12131212-12131213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35587178	chr12:12131242-12131243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554236454	chr12:12131253-12131254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10845437	chr12:12131287-12131288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192016558	chr12:12131288-12131289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570375948	chr12:12131385-12131386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199905753	chr12:12131392-12131393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558728717	chr12:12131405-12131406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144799387	chr12:12131406-12131407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112156098	chr12:12131409-12131410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544564983	chr12:12131410-12131411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111537915	chr12:12131431-12131432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77261553	chr12:12131444-12131445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367840161	chr12:12131447-12131448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184259984	chr12:12131448-12131449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543488118	chr12:12131451-12131452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12307339	chr12:12131452-12131453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368936103	chr12:12131456-12131457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28454164	chr12:12131460-12131461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563640336	chr12:12131463-12131464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149459887	chr12:12131464-12131465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371897762	chr12:12131468-12131469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12313508	chr12:12131472-12131473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140857617	chr12:12131476-12131477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371696486	chr12:12131477-12131478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12313511	chr12:12131481-12131482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542224384	chr12:12131482-12131483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560258680	chr12:12131514-12131515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147706774	chr12:12131515-12131516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374305986	chr12:12131527-12131528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564378480	chr12:12131556-12131557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115451230	chr12:12131591-12131592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556182231	chr12:12131610-12131611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371001170	chr12:12131612-12131613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550086475	chr12:12131635-12131636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568432361	chr12:12131696-12131697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535749579	chr12:12131732-12131733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548173596	chr12:12131740-12131741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566306425	chr12:12131754-12131755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533929521	chr12:12131821-12131822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558683552	chr12:12131840-12131841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114444375	chr12:12131844-12131845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538022898	chr12:12131917-12131918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD
Myelodysplastic syndrome	22875624	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12127400-12131600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:12128800-12134400	Weak transcription	Right Atrium	heart
3	chr12:12129600-12132600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:12129600-12132800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:12129800-12132800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:12130400-12137400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:12131000-12132800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:12131000-12135600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:12131000-12135600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:12131600-12131800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:12131600-12131800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:12131600-12132000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:12131600-12132000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:12131600-12132400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:12131600-12132400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:12131600-12132400	Enhancers	NH-A	brain
17	chr12:12131600-12132400	Enhancers	NHEK	skin
18	chr12:12131600-12132400	Enhancers	Osteobl	bone
19	chr12:12131600-12132600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:12131600-12132600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:12131600-12133000	Enhancers	GM12878-XiMat	blood
22	chr12:12131600-12133000	Enhancers	HMEC	breast
23	chr12:12131600-12133200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:12131600-12134200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:12131600-12134400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:12131600-12135400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:12131600-12135400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:12131600-12135600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:12131800-12132200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:12131800-12132200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr12:12131800-12132800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:12131800-12134400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:12132000-12132200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:12132000-12132200	Enhancers	HSMM	muscle
35	chr12:12132000-12133200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:12132200-12132600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:12132200-12132800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:12132200-12134000	Weak transcription	HSMM	muscle
39	chr12:12132200-12134200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:12132200-12139200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:12132400-12134000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:12132400-12134000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:12132400-12134000	Weak transcription	NHEK	skin
44	chr12:12132400-12134000	Weak transcription	Osteobl	bone
45	chr12:12132400-12134200	Weak transcription	NH-A	brain
46	chr12:12132400-12135400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr12:12132600-12133200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:12132600-12133800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr12:12132600-12134200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:12132600-12135400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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