Variant report

Variant	nsv560054
Chromosome Location	chr12:106048142-106083042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106041801..106043712-chr12:106045727..106048706,2	MCF-7	breast:
2	chr12:106078248..106079769-chr12:106084117..106086026,2	MCF-7	breast:
3	chr12:106059166..106061278-chr12:106063588..106065428,2	MCF-7	breast:
4	chr12:106059166..106061278-chr12:106063588..106065428,2	MCF-7	breast:

Extended variants
information (count: 1085 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1085 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10861465	chr12:106048142-106048143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572867520	chr12:106048143-106048144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538270177	chr12:106048146-106048147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558484843	chr12:106048235-106048236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575450186	chr12:106048237-106048238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544096016	chr12:106048253-106048254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553849660	chr12:106048267-106048268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538182612	chr12:106048287-106048288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141314235	chr12:106048289-106048290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542743547	chr12:106048293-106048294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145053810	chr12:106048307-106048308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146849131	chr12:106048328-106048329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551494740	chr12:106048336-106048337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541991971	chr12:106048337-106048338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373016043	chr12:106048340-106048341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11112638	chr12:106048351-106048352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531281458	chr12:106048399-106048400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74842099	chr12:106048439-106048440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181717896	chr12:106048454-106048455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567886035	chr12:106048466-106048467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536858103	chr12:106048497-106048498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572168965	chr12:106048568-106048569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148971286	chr12:106048574-106048575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566453965	chr12:106048584-106048585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538677743	chr12:106048585-106048586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371561207	chr12:106048587-106048588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542638042	chr12:106048590-106048591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185626231	chr12:106048637-106048638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574882515	chr12:106048662-106048663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78200376	chr12:106048694-106048695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554423266	chr12:106048695-106048696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574365828	chr12:106048708-106048709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540073154	chr12:106048807-106048808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143828611	chr12:106048825-106048826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573260191	chr12:106048828-106048829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545481429	chr12:106048865-106048866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545885189	chr12:106048866-106048867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554951582	chr12:106048886-106048887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190436782	chr12:106048944-106048945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374043981	chr12:106048967-106048968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11112639	chr12:106048984-106048985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543607648	chr12:106049035-106049036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148159506	chr12:106049047-106049048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79172556	chr12:106049056-106049057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34646022	chr12:106049113-106049114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141994732	chr12:106049323-106049324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529077831	chr12:106049362-106049363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182254684	chr12:106049363-106049364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567048218	chr12:106049373-106049374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547571209	chr12:106049384-106049385	Weak transcription	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106045400-106052200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:106045800-106052400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:106051600-106052400	Enhancers	Aorta	Aorta
4	chr12:106051600-106055200	Enhancers	Right Atrium	heart
5	chr12:106051600-106055400	Enhancers	Fetal Muscle Leg	muscle
6	chr12:106051800-106052000	Enhancers	Right Ventricle	heart
7	chr12:106051800-106053000	Enhancers	HUVEC	blood vessel
8	chr12:106051800-106053800	Enhancers	Adipose Nuclei	Adipose
9	chr12:106052200-106053400	Weak transcription	Right Ventricle	heart
10	chr12:106052200-106055000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:106052200-106055200	Enhancers	HMEC	breast
12	chr12:106052400-106052600	Enhancers	Spleen	Spleen
13	chr12:106052400-106053800	Enhancers	Lung	lung
14	chr12:106052400-106054400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:106052400-106055000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:106052400-106055000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:106052400-106066400	Weak transcription	Aorta	Aorta
18	chr12:106052600-106053400	Enhancers	Brain Hippocampus Middle	brain
19	chr12:106052600-106054400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:106052600-106055000	Enhancers	NHEK	skin
21	chr12:106052600-106055400	Enhancers	HSMMtube	muscle
22	chr12:106052800-106053600	Enhancers	Esophagus	oesophagus
23	chr12:106053000-106053600	Enhancers	Brain Germinal Matrix	brain
24	chr12:106053000-106054000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:106053000-106054000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:106053000-106055000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:106053200-106053400	Enhancers	Spleen	Spleen
28	chr12:106053200-106053800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:106053200-106053800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:106053200-106053800	Enhancers	Fetal Lung	lung
31	chr12:106053200-106053800	Enhancers	Fetal Muscle Trunk	muscle
32	chr12:106053200-106053800	Enhancers	Left Ventricle	heart
33	chr12:106053200-106055000	Enhancers	Psoas Muscle	Psoas
34	chr12:106053400-106054200	Enhancers	Stomach Smooth Muscle	stomach
35	chr12:106053400-106054400	Enhancers	Right Ventricle	heart
36	chr12:106053800-106054000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:106053800-106054600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:106053800-106054600	Weak transcription	Left Ventricle	heart
39	chr12:106053800-106054600	Weak transcription	Lung	lung
40	chr12:106054600-106054800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:106054600-106054800	Enhancers	Left Ventricle	heart
42	chr12:106054600-106054800	Enhancers	Lung	lung
43	chr12:106054600-106055200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr12:106055000-106056200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:106055000-106058200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:106055200-106063800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:106055400-106064200	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:106056600-106056800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:106061400-106066200	Weak transcription	Gastric	stomach
50	chr12:106061600-106062000	Enhancers	Fetal Lung	lung

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