Variant report

Variant	nsv469419
Chromosome Location	chr12:63866927-63916682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63912615..63915340-chr12:63916183..63918806,2	K562	blood:
2	chr12:63902632..63905089-chr12:63908351..63910373,2	MCF-7	breast:
3	chr12:63893978..63896181-chr12:64171241..64172887,2	K562	blood:
4	chr12:63902632..63905089-chr12:63908351..63910373,2	MCF-7	breast:
5	chr12:63912615..63915340-chr12:63916183..63918806,2	K562	blood:

Extended variants
information (count: 324 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557869960	chr12:63872804-63872805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577711080	chr12:63872831-63872832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540822848	chr12:63872846-63872847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191286458	chr12:63872873-63872874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78930873	chr12:63872897-63872898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184683470	chr12:63872909-63872910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574288411	chr12:63872910-63872911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1581098	chr12:63872976-63872977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189473737	chr12:63872978-63872979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142810508	chr12:63872979-63872980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193076595	chr12:63872998-63872999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4420319	chr12:63873009-63873010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs562231409	chr12:63873028-63873029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527350142	chr12:63873088-63873089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1707049	chr12:63873149-63873150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185279797	chr12:63873177-63873178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529877131	chr12:63873203-63873204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549698077	chr12:63873223-63873224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569604922	chr12:63873241-63873242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78056173	chr12:63873360-63873361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73323694	chr12:63873394-63873395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146056386	chr12:63873402-63873403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190319206	chr12:63873428-63873429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181147179	chr12:63873433-63873434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574183403	chr12:63873453-63873454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543193004	chr12:63873471-63873472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140080696	chr12:63873473-63873474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569393007	chr12:63873485-63873486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576808355	chr12:63873542-63873543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149791813	chr12:63873609-63873610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564829240	chr12:63873642-63873643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371614733	chr12:63873656-63873657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572122993	chr12:63873667-63873668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563500605	chr12:63873716-63873717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145823092	chr12:63873768-63873769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1607796	chr12:63873776-63873777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529888322	chr12:63873794-63873795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549561132	chr12:63873802-63873803	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552481245	chr12:63873809-63873810	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186570546	chr12:63873834-63873835	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548575790	chr12:63873865-63873866	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148569439	chr12:63873891-63873892	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1733676	chr12:63873895-63873896	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142912693	chr12:63873941-63873942	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568033910	chr12:63873963-63873964	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188279307	chr12:63874041-63874042	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147757880	chr12:63874133-63874134	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181030763	chr12:63874139-63874140	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556750622	chr12:63874215-63874216	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576820136	chr12:63874238-63874239	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63872800-63873600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:63873200-63874400	Enhancers	Adipose Nuclei	Adipose
3	chr12:63873400-63874000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:63873600-63873800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:63873600-63874200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:63873800-63874200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:63873800-63874400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:63874000-63874400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:63874200-63874400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:63874200-63874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:63875800-63877200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:63888400-63888600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:63888400-63888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:63888800-63890000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:63888800-63890200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:63889400-63890200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:63889600-63890000	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr12:63889600-63890200	Enhancers	Liver	Liver
19	chr12:63889600-63890200	Flanking Active TSS	A549	lung
20	chr12:63889800-63891000	Enhancers	Dnd41	blood
21	chr12:63890000-63891200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:63890200-63890400	Enhancers	A549	lung
23	chr12:63890200-63891000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:63907000-63907800	Enhancers	Brain Germinal Matrix	brain
25	chr12:63909000-63909200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:63909200-63910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:63910000-63910200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:63915800-63916800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links