Variant report

Variant	nsv983384
Chromosome Location	chr12:41756923-41757967
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	chr12:41754640..41756533-chr12:41757713..41760164,2	K562	blood:
2	chr12:41753701..41755841-chr12:41755916..41757984,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535551719	chr12:41756928-41756929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4350418	chr12:41756938-41756939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553754313	chr12:41756968-41756969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75171325	chr12:41756993-41756994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4350419	chr12:41757024-41757025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576805475	chr12:41757046-41757047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192043005	chr12:41757055-41757056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561141605	chr12:41757075-41757076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562592283	chr12:41757096-41757097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529768384	chr12:41757226-41757227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542448519	chr12:41757230-41757231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560705121	chr12:41757267-41757268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527874945	chr12:41757287-41757288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552861372	chr12:41757322-41757323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12310536	chr12:41757338-41757339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6582331	chr12:41757345-41757346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531378961	chr12:41757347-41757348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12310539	chr12:41757353-41757354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200010885	chr12:41757373-41757374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140242483	chr12:41757374-41757375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369469781	chr12:41757380-41757381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12310546	chr12:41757386-41757387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12296810	chr12:41757395-41757396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12318986	chr12:41757397-41757398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12317550	chr12:41757403-41757404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12317553	chr12:41757404-41757405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181212403	chr12:41757408-41757409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12318990	chr12:41757413-41757414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77731552	chr12:41757436-41757437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386508596	chr12:41757438-41757439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200244237	chr12:41757439-41757440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201390192	chr12:41757440-41757441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12818858	chr12:41757444-41757445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368426618	chr12:41757521-41757522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370630214	chr12:41757523-41757524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368697220	chr12:41757525-41757526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75643519	chr12:41757526-41757527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79083001	chr12:41757528-41757529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553847083	chr12:41757594-41757595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61924115	chr12:41757617-41757618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140071345	chr12:41757748-41757749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533734623	chr12:41757762-41757763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370732465	chr12:41757806-41757807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10506191	chr12:41757850-41757851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577033652	chr12:41757892-41757893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186665047	chr12:41757893-41757894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556155353	chr12:41757923-41757924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41755000-41759600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:41755400-41757000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:41755400-41757400	Enhancers	Fetal Kidney	kidney
4	chr12:41755400-41760200	Enhancers	Brain Germinal Matrix	brain
5	chr12:41756200-41757000	Enhancers	Brain Hippocampus Middle	brain
6	chr12:41756400-41757000	Enhancers	Ovary	ovary
7	chr12:41756600-41758400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:41756800-41757200	Weak transcription	Brain Angular Gyrus	brain
9	chr12:41756800-41758600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:41757000-41758600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:41757000-41759600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:41757400-41759600	Weak transcription	Fetal Kidney	kidney
13	chr12:41757800-41759800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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