Variant report

Variant	esv13469
Chromosome Location	chr12:4107971-4109977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4104391..4106622-chr12:4107438..4109627,2	MCF-7	breast:
2	chr12:4108194..4110971-chr12:4140017..4143588,4	MCF-7	breast:
3	chr12:4105433..4107342-chr12:4107411..4109246,2	MCF-7	breast:
4	chr12:4107368..4109265-chr12:4110161..4111964,2	MCF-7	breast:
5	chr12:4106157..4109140-chr12:4146186..4148270,2	MCF-7	breast:
6	chr12:4107365..4111293-chr12:4136025..4140047,4	MCF-7	breast:
7	chr12:4108613..4110875-chr12:4120970..4124448,3	MCF-7	breast:
8	chr12:4107032..4110913-chr12:4140387..4144108,4	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76184624	chr12:4108013-4108014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112467249	chr12:4108022-4108023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185070316	chr12:4108029-4108030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34159503	chr12:4108033-4108034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144930510	chr12:4108036-4108037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566298052	chr12:4108089-4108090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61910774	chr12:4108121-4108122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11834507	chr12:4108124-4108125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565906878	chr12:4108129-4108130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535133148	chr12:4108189-4108190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547036175	chr12:4108191-4108192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149088913	chr12:4108192-4108193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74058908	chr12:4108230-4108231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372756632	chr12:4108283-4108284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556385233	chr12:4108315-4108316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377194574	chr12:4108319-4108320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537577656	chr12:4108329-4108330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145909963	chr12:4108345-4108346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147823399	chr12:4108346-4108347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564919345	chr12:4108347-4108348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141482235	chr12:4108468-4108469	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs117410829	chr12:4108487-4108488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs539635887	chr12:4108510-4108511	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs4766193	chr12:4108513-4108514	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114881848	chr12:4108530-4108531	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs569893542	chr12:4108596-4108597	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs532687772	chr12:4108618-4108619	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs552559929	chr12:4108641-4108642	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs566072643	chr12:4108662-4108663	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536507599	chr12:4108673-4108674	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs190356481	chr12:4108674-4108675	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568611926	chr12:4108683-4108684	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs181883121	chr12:4108762-4108763	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs556424207	chr12:4108845-4108846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185078997	chr12:4108910-4108911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188277393	chr12:4108926-4108927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558777408	chr12:4108949-4108950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558533167	chr12:4108977-4108978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369631919	chr12:4109030-4109031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572299956	chr12:4109069-4109070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540708150	chr12:4109086-4109087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373223621	chr12:4109101-4109102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112536101	chr12:4109102-4109103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574218221	chr12:4109106-4109107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376475727	chr12:4109114-4109115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180683531	chr12:4109129-4109130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77618407	chr12:4109136-4109137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532527305	chr12:4109149-4109150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186120792	chr12:4109151-4109152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4765761	chr12:4109234-4109235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4099000-4109200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:4104000-4109800	Enhancers	Placenta	Placenta
3	chr12:4104000-4110200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:4104200-4109800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:4104600-4110000	Enhancers	HepG2	liver
6	chr12:4104800-4109800	Enhancers	Pancreas	Pancrea
7	chr12:4105000-4108600	Weak transcription	Fetal Stomach	stomach
8	chr12:4105200-4109800	Enhancers	Fetal Intestine Large	intestine
9	chr12:4105400-4109400	Enhancers	Primary T cells from cord blood	blood
10	chr12:4105400-4109800	Enhancers	Fetal Intestine Small	intestine
11	chr12:4105800-4108800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:4106000-4108000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:4106000-4108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:4106400-4108000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:4106400-4108400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:4106800-4108800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:4106800-4109200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:4106800-4109800	Enhancers	Fetal Muscle Leg	muscle
19	chr12:4107000-4108000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:4107000-4108600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:4107000-4112600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:4107200-4108000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:4107400-4108800	Enhancers	Fetal Muscle Trunk	muscle
24	chr12:4107400-4109400	Enhancers	Fetal Thymus	thymus
25	chr12:4107400-4109600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:4107400-4109800	Enhancers	NHEK	skin
27	chr12:4107600-4108000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:4107600-4108000	Enhancers	Fetal Kidney	kidney
29	chr12:4107600-4110000	Enhancers	HMEC	breast
30	chr12:4107600-4121600	Weak transcription	Esophagus	oesophagus
31	chr12:4107800-4108000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:4107800-4108200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:4107800-4108800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr12:4107800-4109400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr12:4108000-4108400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:4108000-4108400	Enhancers	Duodenum Mucosa	Duodenum
37	chr12:4108000-4109800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:4108000-4109800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:4108200-4109200	Enhancers	Primary hematopoietic stem cells	blood
40	chr12:4108200-4110000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr12:4108400-4108600	Bivalent Enhancer	HSMM	muscle
42	chr12:4108400-4108800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr12:4108400-4108800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr12:4108400-4108800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:4108400-4108800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:4108400-4108800	Active TSS	Spleen	Spleen
47	chr12:4108400-4109000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:4108400-4109000	Enhancers	Stomach Mucosa	stomach
49	chr12:4108400-4109400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:4108600-4108800	Enhancers	Fetal Stomach	stomach

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