Variant report

Variant	esv3327441
Chromosome Location	chr12:47585533-47586004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47583159..47586380-chr12:47586604..47590176,3	MCF-7	breast:
2	chr12:47579082..47584431-chr12:47584905..47587812,5	K562	blood:
3	chr12:47498470..47501746-chr12:47583705..47586367,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263838	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11183784	chr12:47585537-47585538	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560696974	chr12:47585551-47585552	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs57387992	chr12:47585556-47585557	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545141126	chr12:47585568-47585569	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147421136	chr12:47585592-47585593	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377417947	chr12:47585593-47585594	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530428524	chr12:47585600-47585601	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189499467	chr12:47585602-47585603	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370938071	chr12:47585603-47585604	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10881074	chr12:47585604-47585605	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76960481	chr12:47585605-47585606	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61927721	chr12:47585607-47585608	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567142322	chr12:47585655-47585656	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371099921	chr12:47585725-47585726	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529969898	chr12:47585733-47585734	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546466152	chr12:47585736-47585737	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111351254	chr12:47585814-47585815	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370915229	chr12:47585830-47585831	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566349429	chr12:47585834-47585835	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146513750	chr12:47585839-47585840	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552397866	chr12:47585846-47585847	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569284353	chr12:47585891-47585892	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537946454	chr12:47585894-47585895	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201351838	chr12:47585955-47585956	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370823874	chr12:47585956-47585957	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374116082	chr12:47585957-47585958	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs60925090	chr12:47585969-47585970	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554984957	chr12:47585979-47585980	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574865437	chr12:47585988-47585989	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47578200-47587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:47580800-47585600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:47581000-47585800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:47581800-47594000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:47582200-47585600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:47582800-47585800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:47583000-47585800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:47583200-47587200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:47583200-47587600	Weak transcription	Pancreas	Pancrea
10	chr12:47583200-47588400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:47583200-47589200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
13	chr12:47583400-47588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:47583400-47588400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:47583600-47585600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:47583800-47587600	Weak transcription	Lung	lung
17	chr12:47584000-47600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:47584200-47587000	Weak transcription	Psoas Muscle	Psoas
19	chr12:47584200-47587600	Weak transcription	Right Atrium	heart
20	chr12:47584200-47589600	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:47584400-47586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:47584600-47585600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:47584600-47585600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:47584600-47585600	Weak transcription	Liver	Liver
25	chr12:47584600-47586600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:47584600-47587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:47584600-47587000	Weak transcription	Spleen	Spleen
28	chr12:47584600-47587200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:47584600-47587400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:47584600-47587600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:47584600-47588400	Weak transcription	Adipose Nuclei	Adipose
32	chr12:47584800-47586000	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:47584800-47586400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:47584800-47586400	Weak transcription	K562	blood
35	chr12:47584800-47586600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:47584800-47586800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:47584800-47587000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:47584800-47597200	Weak transcription	Primary B cells from cord blood	blood
39	chr12:47584800-47605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:47585000-47585600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr12:47585000-47586000	Weak transcription	Osteobl	bone
42	chr12:47585000-47586200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:47585000-47586400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:47585000-47587000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:47585000-47587000	Weak transcription	NH-A	brain
46	chr12:47585000-47588600	Enhancers	GM12878-XiMat	blood
47	chr12:47585200-47585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:47585200-47585800	Enhancers	Colonic Mucosa	Colon
49	chr12:47585200-47586600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:47585200-47586600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links