Variant report

Variant	esv3389699
Chromosome Location	chr12:63270285-63270610
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	chr12:63260158..63264907-chr12:63265796..63270388,6	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545481015	chr12:63270292-63270293	Weak transcription Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565188399	chr12:63270314-63270315	Weak transcription Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187540067	chr12:63270315-63270316	Weak transcription Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547441795	chr12:63270321-63270322	Weak transcription Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11174704	chr12:63270324-63270325	Weak transcription Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7296423	chr12:63270329-63270330	Weak transcription Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192777572	chr12:63270374-63270375	Weak transcription Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146041757	chr12:63270422-63270423	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139251372	chr12:63270442-63270443	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12823199	chr12:63270447-63270448	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571217401	chr12:63270502-63270503	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185554257	chr12:63270504-63270505	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149971002	chr12:63270521-63270522	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369946712	chr12:63270566-63270567	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574028173	chr12:63270568-63270569	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145198955	chr12:63270594-63270595	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556386042	chr12:63270601-63270602	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63258200-63277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:63260200-63275400	Weak transcription	Pancreas	Pancrea
3	chr12:63260600-63270600	Weak transcription	Aorta	Aorta
4	chr12:63260800-63275200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:63261200-63275000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:63261200-63277800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:63262400-63275200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:63262400-63277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:63262800-63276000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:63263400-63277200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:63267400-63277600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:63267800-63274200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:63268000-63285000	Weak transcription	Fetal Intestine Large	intestine
14	chr12:63268200-63272400	Weak transcription	Placenta	Placenta
15	chr12:63268200-63274400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:63268400-63270800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:63268400-63273200	Strong transcription	HepG2	liver
18	chr12:63268600-63271000	Weak transcription	Fetal Intestine Small	intestine
19	chr12:63268600-63280600	Weak transcription	Brain Anterior Caudate	brain
20	chr12:63269600-63270400	Bivalent Enhancer	NHDF-Ad	bronchial
21	chr12:63269600-63271400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:63269600-63271800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:63269800-63270400	Enhancers	Ovary	ovary
24	chr12:63269800-63271400	Enhancers	Brain Hippocampus Middle	brain
25	chr12:63270000-63271200	Enhancers	Brain Angular Gyrus	brain
26	chr12:63270000-63271200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:63270200-63270400	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:63270200-63270600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:63270200-63273600	Weak transcription	Osteobl	bone
30	chr12:63270400-63270600	Flanking Active TSS	Ovary	ovary
31	chr12:63270400-63270800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:63270400-63271000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:63270400-63271200	Enhancers	Left Ventricle	heart
34	chr12:63270400-63271200	Enhancers	Right Atrium	heart
35	chr12:63270600-63270800	Flanking Active TSS	Aorta	Aorta
36	chr12:63270600-63271000	Active TSS	Ovary	ovary
37	chr12:63270600-63271200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:63270600-63271200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:63270600-63275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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