Variant report

Variant	esv3429989
Chromosome Location	chr12:11872404-11872935
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	chr12:11871186..11873345-chr12:11883062..11884780,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112594331	chr12:11872423-11872424	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565454655	chr12:11872559-11872560	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141095425	chr12:11872578-11872579	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185995145	chr12:11872581-11872582	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563355845	chr12:11872597-11872598	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530664511	chr12:11872600-11872601	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370991210	chr12:11872610-11872611	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191537430	chr12:11872621-11872622	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7302827	chr12:11872632-11872633	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528284813	chr12:11872669-11872670	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs116343618	chr12:11872674-11872675	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571476553	chr12:11872705-11872706	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs539003796	chr12:11872736-11872737	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144909623	chr12:11872739-11872740	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569004780	chr12:11872792-11872793	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536297598	chr12:11872806-11872807	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554650046	chr12:11872810-11872811	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573066597	chr12:11872811-11872812	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368743110	chr12:11872862-11872863	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371915764	chr12:11872907-11872908	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116215801	chr12:11872908-11872909	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4145227	chr12:11872909-11872910	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374403177	chr12:11872918-11872919	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559180748	chr12:11872922-11872923	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554314114	chr12:11872923-11872924	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Cancer	17440070	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

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11848800-11879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:11854800-11872600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:11857000-11876800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:11861800-11876200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:11864200-11872600	Weak transcription	Psoas Muscle	Psoas
7	chr12:11865200-11879400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:11865800-11872800	Genic enhancers	GM12878-XiMat	blood
9	chr12:11865800-11879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:11866800-11873200	Enhancers	Liver	Liver
11	chr12:11867000-11873200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:11867600-11873000	Enhancers	Left Ventricle	heart
13	chr12:11868400-11872800	Enhancers	Fetal Intestine Large	intestine
14	chr12:11868400-11873200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:11868400-11873600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:11868800-11873400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:11869400-11872600	Enhancers	NH-A	brain
18	chr12:11869400-11873000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:11869400-11873200	Enhancers	Brain Anterior Caudate	brain
20	chr12:11869400-11873200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:11869400-11873400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:11869400-11873400	Genic enhancers	Fetal Thymus	thymus
23	chr12:11869400-11873400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:11869400-11873600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:11869400-11877400	Enhancers	HUVEC	blood vessel
26	chr12:11869600-11872800	Enhancers	Brain Hippocampus Middle	brain
27	chr12:11869600-11873000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:11869600-11873000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr12:11869600-11873200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:11869600-11873200	Enhancers	Colon Smooth Muscle	Colon
31	chr12:11869600-11873400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:11869800-11872600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:11869800-11872800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:11869800-11872800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr12:11869800-11873000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:11869800-11873000	Enhancers	HMEC	breast
37	chr12:11869800-11873200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:11869800-11873200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:11869800-11873200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr12:11869800-11873200	Enhancers	NHDF-Ad	bronchial
41	chr12:11869800-11873400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:11869800-11873400	Enhancers	Fetal Heart	heart
43	chr12:11870000-11873000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:11870000-11873000	Enhancers	Fetal Lung	lung
45	chr12:11870200-11872600	Weak transcription	Pancreas	Pancrea
46	chr12:11870200-11873400	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:11870200-11885000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:11870400-11873200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:11870400-11873400	Enhancers	NHLF	lung
50	chr12:11870400-11879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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