Variant report

Variant	nsv947076
Chromosome Location	chr1:242227446-242232587
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	chr1:242219802..242221772-chr1:242224565..242228603,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224625	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553590413	chr1:242227447-242227448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570389225	chr1:242227481-242227482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539078095	chr1:242227501-242227502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556013706	chr1:242227600-242227601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575959730	chr1:242227620-242227621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148420971	chr1:242227675-242227676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77330459	chr1:242227686-242227687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572150195	chr1:242227703-242227704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12043161	chr1:242227704-242227705	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569324202	chr1:242227705-242227706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541472651	chr1:242227732-242227733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564437400	chr1:242227735-242227736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533329404	chr1:242227756-242227757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543477930	chr1:242227787-242227788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142553286	chr1:242227863-242227864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529657911	chr1:242227881-242227882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79774819	chr1:242227941-242227942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368388063	chr1:242228003-242228004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549598819	chr1:242228018-242228019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11577896	chr1:242228023-242228024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1519903	chr1:242228024-242228025	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs375653424	chr1:242228060-242228061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs377507942	chr1:242228095-242228096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75782126	chr1:242228108-242228109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539398195	chr1:242228113-242228114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186509355	chr1:242228175-242228176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569611223	chr1:242228211-242228212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192721762	chr1:242228215-242228216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369823200	chr1:242228225-242228226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535318499	chr1:242228363-242228364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35491421	chr1:242228443-242228444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555251331	chr1:242228509-242228510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572170382	chr1:242228527-242228528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113812831	chr1:242228603-242228604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574089372	chr1:242228805-242228806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77408467	chr1:242228824-242228825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560107406	chr1:242228850-242228851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386354735	chr1:242228858-242228859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113382601	chr1:242228860-242228861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144556664	chr1:242228873-242228874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551717749	chr1:242228996-242228997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186461326	chr1:242231041-242231042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557341013	chr1:242231130-242231131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2139470	chr1:242231183-242231184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150728553	chr1:242231215-242231216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565162061	chr1:242231232-242231233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530867207	chr1:242231244-242231245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550793183	chr1:242231370-242231371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190593991	chr1:242231371-242231372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368411626	chr1:242231382-242231383	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242225000-242228600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:242228800-242229000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:242231000-242231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:242231200-242231800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:242231800-242232800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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