Variant report

Variant	nsv519500
Chromosome Location	chr12:106350456-106356170
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	chr12:106348322..106349923-chr12:106353248..106355094,2	MCF-7	breast:

Extended variants
information (count: 226 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7299479	chr12:106350456-106350457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373537908	chr12:106350478-106350479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7299253	chr12:106350530-106350531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7299255	chr12:106350535-106350536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566473740	chr12:106350544-106350545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528683356	chr12:106350545-106350546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561954846	chr12:106350563-106350564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148532914	chr12:106350679-106350680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572139977	chr12:106350710-106350711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7299534	chr12:106350743-106350744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34455816	chr12:106350752-106350753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191921945	chr12:106350770-106350771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536282336	chr12:106350819-106350820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116322948	chr12:106350825-106350826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12579404	chr12:106350875-106350876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17037913	chr12:106350889-106350890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142943075	chr12:106350906-106350907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567314907	chr12:106350913-106350914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11112816	chr12:106350925-106350926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1895106	chr12:106350940-106350941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs184224020	chr12:106350949-106350950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117687214	chr12:106350965-106350966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539896968	chr12:106350971-106350972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1895105	chr12:106351016-106351017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141030109	chr12:106351064-106351065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188366543	chr12:106351067-106351068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149856710	chr12:106351088-106351089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386766067	chr12:106351102-106351103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61179844	chr12:106351103-106351104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576552070	chr12:106351190-106351191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550844992	chr12:106351198-106351199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146866746	chr12:106351207-106351208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536645801	chr12:106351238-106351239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12426257	chr12:106351245-106351246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377205045	chr12:106351246-106351247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566916566	chr12:106351297-106351298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17037924	chr12:106351316-106351317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140901790	chr12:106351324-106351325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369604738	chr12:106351326-106351327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558750982	chr12:106351396-106351397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182531473	chr12:106351414-106351415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538067640	chr12:106351425-106351426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377424219	chr12:106351453-106351454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574685852	chr12:106351557-106351558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116635517	chr12:106351587-106351588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11112817	chr12:106351628-106351629	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187236883	chr12:106351658-106351659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11112818	chr12:106351660-106351661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545506699	chr12:106351668-106351669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562275580	chr12:106351744-106351745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106340600-106355800	Weak transcription	Esophagus	oesophagus
2	chr12:106346200-106353800	Weak transcription	Lung	lung
3	chr12:106348200-106352000	Enhancers	Fetal Heart	heart
4	chr12:106348600-106350600	Enhancers	Right Ventricle	heart
5	chr12:106348800-106350600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:106348800-106350800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:106348800-106351600	Enhancers	HSMMtube	muscle
8	chr12:106349000-106350600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:106349200-106350600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:106349400-106351800	Enhancers	K562	blood
11	chr12:106349600-106353600	Weak transcription	Aorta	Aorta
12	chr12:106349600-106353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:106349600-106353800	Weak transcription	NHEK	skin
14	chr12:106349600-106354200	Weak transcription	Right Atrium	heart
15	chr12:106349600-106354200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:106349600-106354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:106349800-106353800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:106349800-106353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:106349800-106353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:106349800-106353800	Weak transcription	HMEC	breast
21	chr12:106350000-106354200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:106350200-106350800	Enhancers	Left Ventricle	heart
23	chr12:106350200-106354200	Weak transcription	HSMM	muscle
24	chr12:106350400-106351600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:106350600-106353000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:106350600-106353800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:106350600-106354000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:106350600-106354600	Weak transcription	Right Ventricle	heart
29	chr12:106350800-106353800	Weak transcription	Left Ventricle	heart
30	chr12:106350800-106354000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:106351600-106353600	Weak transcription	HSMMtube	muscle
32	chr12:106351600-106353800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:106352000-106354000	Weak transcription	Fetal Heart	heart
34	chr12:106353000-106354800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:106353400-106353800	Enhancers	A549	lung
36	chr12:106353600-106354400	Enhancers	Aorta	Aorta
37	chr12:106353600-106356800	Enhancers	HSMMtube	muscle
38	chr12:106353800-106354400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:106353800-106354400	Enhancers	Left Ventricle	heart
40	chr12:106353800-106354400	Enhancers	Lung	lung
41	chr12:106353800-106354600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:106353800-106354600	Flanking Active TSS	A549	lung
43	chr12:106353800-106354800	Enhancers	Fetal Kidney	kidney
44	chr12:106353800-106354800	Enhancers	Ovary	ovary
45	chr12:106353800-106354800	Enhancers	Pancreas	Pancrea
46	chr12:106353800-106354800	Enhancers	HUVEC	blood vessel
47	chr12:106353800-106355200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr12:106353800-106355400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:106353800-106356200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:106353800-106356600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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