Variant report

Variant	esv3402566
Chromosome Location	chr12:41449960-41452058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:41449274..41451098-chr12:41453450..41455316,2	K562	blood:
2	chr12:41447343..41449022-chr12:41451324..41453086,2	K562	blood:
3	chr12:41443017..41445495-chr12:41450238..41452740,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537334608	chr12:41449997-41449998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189480043	chr12:41450049-41450050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145992413	chr12:41450091-41450092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540663996	chr12:41450094-41450095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529703369	chr12:41450113-41450114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139935798	chr12:41450114-41450115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577322069	chr12:41450129-41450130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545168979	chr12:41450225-41450226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563922876	chr12:41450279-41450280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192894396	chr12:41450311-41450312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549632032	chr12:41450351-41450352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74076966	chr12:41450354-41450355	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528478877	chr12:41450391-41450392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149742211	chr12:41450396-41450397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185290485	chr12:41450439-41450440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145676411	chr12:41450458-41450459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548159809	chr12:41450535-41450536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570049054	chr12:41450551-41450552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569808356	chr12:41450552-41450553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117176222	chr12:41450605-41450606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189400453	chr12:41450632-41450633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573861948	chr12:41450666-41450667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546002708	chr12:41450689-41450690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1083140	chr12:41450700-41450701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552570932	chr12:41450707-41450708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577283422	chr12:41450708-41450709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201374035	chr12:41450715-41450716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202240807	chr12:41450716-41450717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372828346	chr12:41450717-41450718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377240474	chr12:41450718-41450719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575792363	chr12:41450719-41450720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181424969	chr12:41450727-41450728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546864222	chr12:41450737-41450738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71452296	chr12:41450744-41450745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201077333	chr12:41450771-41450772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199515858	chr12:41450772-41450773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200678073	chr12:41450773-41450774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57662591	chr12:41450795-41450796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547738419	chr12:41450817-41450818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201475465	chr12:41450820-41450821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542893986	chr12:41450822-41450823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552023926	chr12:41450838-41450839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553295895	chr12:41450861-41450862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575564030	chr12:41450892-41450893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573095354	chr12:41450927-41450928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185831305	chr12:41450988-41450989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561588867	chr12:41450989-41450990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528800076	chr12:41451064-41451065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142807512	chr12:41451102-41451103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565297836	chr12:41451123-41451124	Weak transcription	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41429000-41469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:41448200-41456600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:41449200-41450200	Enhancers	HSMM	muscle
4	chr12:41449200-41450400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:41449200-41450600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:41449600-41450000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:41449600-41450000	Enhancers	Fetal Muscle Leg	muscle
8	chr12:41449600-41450000	Enhancers	Fetal Stomach	stomach
9	chr12:41449600-41450200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:41449600-41450400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:41449600-41450400	Enhancers	Colon Smooth Muscle	Colon
12	chr12:41449600-41450400	Enhancers	A549	lung
13	chr12:41449600-41450600	Enhancers	Rectal Smooth Muscle	rectum
14	chr12:41449800-41450200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr12:41449800-41450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:41449800-41450400	Enhancers	Brain Anterior Caudate	brain
17	chr12:41449800-41450400	Enhancers	NH-A	brain
18	chr12:41450000-41450400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:41450400-41454200	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:41450400-41455000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:41450600-41451600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:41451600-41453400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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