Variant report

Variant	nsv973062
Chromosome Location	chr12:47298309-47308954
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	chr12:47297249..47299420-chr12:47327492..47329944,2	K562	blood:
2	chr12:46749998..46752489-chr12:47298885..47300425,2	K562	blood:

Extended variants
information (count: 387 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542043008	chr12:47298315-47298316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149793422	chr12:47298316-47298317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145781145	chr12:47298323-47298324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568849449	chr12:47298324-47298325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191845580	chr12:47298333-47298334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113561724	chr12:47298362-47298363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567633585	chr12:47298385-47298386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184279293	chr12:47298410-47298411	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs540500961	chr12:47298475-47298476	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187474428	chr12:47298497-47298498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145323609	chr12:47298499-47298500	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192940194	chr12:47298503-47298504	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577236606	chr12:47298514-47298515	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs55703553	chr12:47298515-47298516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs201160190	chr12:47298521-47298522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546015497	chr12:47298537-47298538	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2002045	chr12:47298686-47298687	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559646510	chr12:47298728-47298729	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185539822	chr12:47298747-47298748	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561904870	chr12:47298794-47298795	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs556340261	chr12:47298806-47298807	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs115502770	chr12:47298877-47298878	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs547421838	chr12:47298900-47298901	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs564437786	chr12:47298903-47298904	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs75147075	chr12:47298917-47298918	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs190415917	chr12:47298995-47298996	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs78885491	chr12:47299007-47299008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537518261	chr12:47299030-47299031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548284309	chr12:47299072-47299073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568099784	chr12:47299120-47299121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377667368	chr12:47299126-47299127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147669287	chr12:47299164-47299165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142628211	chr12:47299177-47299178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143417227	chr12:47299181-47299182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539751833	chr12:47299206-47299207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370960522	chr12:47299207-47299208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556035594	chr12:47299238-47299239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576206633	chr12:47299239-47299240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371204205	chr12:47299256-47299257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375022106	chr12:47299288-47299289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148345049	chr12:47299289-47299290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562196353	chr12:47299303-47299304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140568820	chr12:47299367-47299368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541018139	chr12:47299401-47299402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370267006	chr12:47299406-47299407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150460299	chr12:47299465-47299466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549233155	chr12:47299526-47299527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371810840	chr12:47299644-47299645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138570388	chr12:47299648-47299649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180674967	chr12:47299649-47299650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47285200-47298400	Weak transcription	HSMM	muscle
2	chr12:47287600-47298400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:47291400-47298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47296000-47298600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:47297200-47298400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:47297400-47298600	Enhancers	NHDF-Ad	bronchial
7	chr12:47297600-47299200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:47298000-47299000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr12:47298200-47298600	Enhancers	Osteobl	bone
10	chr12:47298200-47299200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:47298200-47299200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:47298200-47299200	Enhancers	NHLF	lung
13	chr12:47298200-47299600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:47298200-47299600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:47298400-47299000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:47298400-47299000	Enhancers	HSMM	muscle
17	chr12:47298400-47299200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:47298400-47299600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:47298400-47299600	Enhancers	HMEC	breast
20	chr12:47298400-47302400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:47298600-47298800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:47298600-47298800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:47298600-47298800	Enhancers	HSMMtube	muscle
24	chr12:47298600-47299000	Enhancers	NH-A	brain
25	chr12:47298600-47299000	Flanking Active TSS	NHDF-Ad	bronchial
26	chr12:47298600-47299000	Flanking Active TSS	Osteobl	bone
27	chr12:47298600-47299200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:47298600-47299400	Enhancers	NHEK	skin
29	chr12:47298800-47299000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:47298800-47299000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:47298800-47299000	Bivalent Enhancer	Aorta	Aorta
32	chr12:47298800-47299200	Enhancers	Esophagus	oesophagus
33	chr12:47298800-47299200	Enhancers	Placenta	Placenta
34	chr12:47298800-47299800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:47299000-47299400	Enhancers	Osteobl	bone
36	chr12:47299000-47299600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:47299000-47299600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:47299000-47299800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:47299000-47299800	Enhancers	NHDF-Ad	bronchial
40	chr12:47299000-47302200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:47299000-47302400	Weak transcription	HSMM	muscle
42	chr12:47299200-47301800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:47299200-47301800	Weak transcription	Esophagus	oesophagus
44	chr12:47299200-47302400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:47299200-47302600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:47299400-47301400	Weak transcription	NHEK	skin
47	chr12:47299400-47302400	Weak transcription	Osteobl	bone
48	chr12:47299600-47301400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:47299600-47301400	Weak transcription	HMEC	breast
50	chr12:47299600-47301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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