Variant report

Variant	nsv983245
Chromosome Location	chr12:47433753-47435075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47429561..47435468-chr12:47461166..47465948,5	MCF-7	breast:
2	chr12:47426514..47428986-chr12:47432819..47435080,2	K562	blood:
3	chr12:47433423..47435550-chr12:47472685..47474685,2	K562	blood:
4	chr12:47434957..47437374-chr12:47470589..47472763,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139211	chromatin interactions
ENSG00000179715	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 66 )

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	rs538880059	chr12:47433761-47433762	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs74394719	chr12:47433774-47433775	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs191197328	chr12:47433805-47433806	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543115947	chr12:47433808-47433809	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116062445	chr12:47433821-47433822	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539026378	chr12:47433838-47433839	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs79979889	chr12:47433873-47433874	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183745483	chr12:47433896-47433897	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73093117	chr12:47433900-47433901	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528413717	chr12:47433925-47433926	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143736720	chr12:47433940-47433941	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs17097518	chr12:47434141-47434142	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146818956	chr12:47434163-47434164	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551136069	chr12:47434173-47434174	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567550128	chr12:47434188-47434189	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77121212	chr12:47434217-47434218	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs140420085	chr12:47434222-47434223	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567118831	chr12:47434237-47434238	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs11183705	chr12:47434278-47434279	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558679617	chr12:47434305-47434306	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs569116669	chr12:47434331-47434332	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536736153	chr12:47434376-47434377	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557062073	chr12:47434410-47434411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573533512	chr12:47434411-47434412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377579618	chr12:47434619-47434620	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs79283873	chr12:47434652-47434653	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189524066	chr12:47434653-47434654	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs150408283	chr12:47434671-47434672	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs565066494	chr12:47434690-47434691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs530773545	chr12:47434711-47434712	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557045680	chr12:47434722-47434723	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569150091	chr12:47434737-47434738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561468750	chr12:47434740-47434741	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530151990	chr12:47434751-47434752	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546942906	chr12:47434786-47434787	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566755168	chr12:47434814-47434815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201460381	chr12:47434816-47434817	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs56692422	chr12:47434829-47434830	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs181181907	chr12:47434878-47434879	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs111280156	chr12:47434903-47434904	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs186565239	chr12:47434913-47434914	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs74772261	chr12:47434947-47434948	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs567328165	chr12:47434959-47434960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535969964	chr12:47434991-47434992	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs111524751	chr12:47435009-47435010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs189824694	chr12:47435029-47435030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs80260830	chr12:47435058-47435059	Weak transcription	Chromatin interactive region	2 gene(s)	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
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
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47429200-47433800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:47429400-47450000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:47429800-47433800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:47433600-47434400	Flanking Active TSS	A549	lung
5	chr12:47433800-47434000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:47434000-47434200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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