Variant report

Variant	nsv522471
Chromosome Location	chr12:40284666-40288790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs884864	chr12:40284666-40284667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111340168	chr12:40284675-40284676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545851014	chr12:40284697-40284698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556153983	chr12:40284708-40284709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112329007	chr12:40284757-40284758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs884865	chr12:40284762-40284763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577881833	chr12:40284763-40284764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538442396	chr12:40284813-40284814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574876980	chr12:40284893-40284894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541952591	chr12:40284917-40284918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71075093	chr12:40284923-40284924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373202312	chr12:40284933-40284934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs884866	chr12:40284936-40284937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572659253	chr12:40284951-40284952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144263257	chr12:40284982-40284983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542786334	chr12:40284990-40284991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560975498	chr12:40285009-40285010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564793558	chr12:40285040-40285041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs884867	chr12:40285051-40285052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185283987	chr12:40285096-40285097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576062296	chr12:40285105-40285106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188897624	chr12:40285109-40285110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116999384	chr12:40285144-40285145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543427229	chr12:40285146-40285147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181955290	chr12:40285147-40285148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184780434	chr12:40285257-40285258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76273703	chr12:40285281-40285282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551918749	chr12:40285310-40285311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12321244	chr12:40285317-40285318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17127219	chr12:40285347-40285348	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs561642030	chr12:40285360-40285361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77721869	chr12:40285377-40285378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369401140	chr12:40285418-40285419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11174153	chr12:40285436-40285437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535977438	chr12:40285443-40285444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188374607	chr12:40285448-40285449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374870645	chr12:40285507-40285508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548264550	chr12:40285514-40285515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559560022	chr12:40285516-40285517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10877733	chr12:40285542-40285543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34970446	chr12:40285655-40285656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575514266	chr12:40285663-40285664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116456919	chr12:40285685-40285686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558345554	chr12:40285700-40285701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576812224	chr12:40285706-40285707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371033694	chr12:40285713-40285714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180814289	chr12:40285730-40285731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202055563	chr12:40285778-40285779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11838322	chr12:40285779-40285780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562546162	chr12:40285782-40285783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40273000-40286000	Weak transcription	Pancreas	Pancrea
2	chr12:40280400-40285400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:40283000-40285000	Weak transcription	Liver	Liver
4	chr12:40284800-40285000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr12:40285000-40285600	Enhancers	Fetal Kidney	kidney
6	chr12:40285000-40285600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:40285000-40289000	Enhancers	Liver	Liver
8	chr12:40285400-40286400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:40285800-40286000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr12:40285800-40286200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:40285800-40286200	Enhancers	Colon Smooth Muscle	Colon
12	chr12:40285800-40286200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr12:40285800-40286400	Enhancers	Adipose Nuclei	Adipose
14	chr12:40285800-40286600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:40286000-40286200	Enhancers	Gastric	stomach
16	chr12:40286000-40286200	Enhancers	Pancreas	Pancrea
17	chr12:40286000-40286400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:40286000-40286400	Enhancers	Fetal Muscle Leg	muscle
19	chr12:40286000-40286400	Enhancers	Osteobl	bone

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