Variant report

Variant	esv3323443
Chromosome Location	chr12:62392085-62396383
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	chr12:61822855..61824630-chr12:62390503..62393060,2	K562	blood:
2	chr12:62392186..62394939-chr12:62398107..62400504,2	MCF-7	breast:

Extended variants
information (count: 167 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35923680	chr12:62392099-62392100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141087755	chr12:62392150-62392151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182329537	chr12:62392158-62392159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531817945	chr12:62392160-62392161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550543407	chr12:62392178-62392179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532557204	chr12:62392203-62392204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184519855	chr12:62392249-62392250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557773053	chr12:62392302-62392303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188286644	chr12:62392329-62392330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79007480	chr12:62392380-62392381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566398418	chr12:62392391-62392392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117216888	chr12:62392436-62392437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548550293	chr12:62392442-62392443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112916063	chr12:62392445-62392446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528800798	chr12:62392467-62392468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568650729	chr12:62392488-62392489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17125610	chr12:62392548-62392549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557519229	chr12:62392573-62392574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578128903	chr12:62392619-62392620	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11174270	chr12:62392623-62392624	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534098564	chr12:62392628-62392629	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146914251	chr12:62392631-62392632	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574364560	chr12:62392647-62392648	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs530975129	chr12:62392649-62392650	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs180691136	chr12:62392694-62392695	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs71465128	chr12:62392800-62392801	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576509097	chr12:62392803-62392804	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs578052722	chr12:62392813-62392814	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185752858	chr12:62392823-62392824	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs12302719	chr12:62392890-62392891	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570969603	chr12:62392907-62392908	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546363568	chr12:62392994-62392995	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs190122277	chr12:62392997-62392998	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs529139437	chr12:62393024-62393025	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs77893815	chr12:62393035-62393036	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs568836494	chr12:62393041-62393042	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs12229456	chr12:62393044-62393045	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs551468700	chr12:62393051-62393052	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs542314456	chr12:62393064-62393065	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552109910	chr12:62393117-62393118	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs370950759	chr12:62393119-62393120	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534423037	chr12:62393159-62393160	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs139367412	chr12:62393183-62393184	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568000199	chr12:62393235-62393236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181825796	chr12:62393242-62393243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111781641	chr12:62393253-62393254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7316605	chr12:62393257-62393258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186891831	chr12:62393261-62393262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192094307	chr12:62393287-62393288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534600376	chr12:62393334-62393335	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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	19602461	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
Hodgkin''s lymphoma	18179710	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
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	20369283	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62386400-62392600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:62387800-62392600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:62391000-62392600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:62391200-62393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:62392400-62393200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:62392600-62393000	Enhancers	Brain Anterior Caudate	brain
7	chr12:62392600-62393000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr12:62392600-62393200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:62392600-62393200	Enhancers	Brain Hippocampus Middle	brain
10	chr12:62392600-62393400	Enhancers	Adipose Nuclei	Adipose
11	chr12:62392600-62393600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:62392600-62394200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr12:62393000-62393400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr12:62393200-62393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:62393400-62396600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:62393600-62396600	Weak transcription	Primary monocytes fromperipheralblood	blood

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