Variant report

Variant	esv3342548
Chromosome Location	chr1:241934354-241936402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241802072..241803873-chr1:241935551..241937379,2	MCF-7	breast:
2	chr1:241931182..241934991-chr1:241935809..241940192,4	K562	blood:
3	chr1:241800150..241802189-chr1:241935454..241937787,2	MCF-7	breast:
4	chr1:241936136..241938002-chr1:241944520..241947024,2	K562	blood:

Variant related genes	Relation type
ENSG00000054277	chromatin interactions
ENSG00000162843	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138345676	chr1:241934403-241934404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10645443	chr1:241934404-241934405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386370219	chr1:241934405-241934406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs398069697	chr1:241934406-241934407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181951086	chr1:241934412-241934413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538884418	chr1:241934467-241934468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185896026	chr1:241934508-241934509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190808047	chr1:241934530-241934531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536610937	chr1:241934659-241934660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373248363	chr1:241934662-241934663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556938422	chr1:241934665-241934666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183227659	chr1:241934684-241934685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188156463	chr1:241934685-241934686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550699545	chr1:241934705-241934706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28544218	chr1:241934715-241934716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190543155	chr1:241934729-241934730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573070151	chr1:241934735-241934736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12091522	chr1:241934757-241934758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565362957	chr1:241934784-241934785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139942709	chr1:241934825-241934826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575707610	chr1:241934842-241934843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544248873	chr1:241934881-241934882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561335117	chr1:241934923-241934924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377307714	chr1:241934936-241934937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182920260	chr1:241934940-241934941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546878256	chr1:241935042-241935043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560443228	chr1:241935094-241935095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554832700	chr1:241935117-241935118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114725032	chr1:241935152-241935153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534114314	chr1:241935156-241935157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552371970	chr1:241935174-241935175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140924519	chr1:241935177-241935178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537304727	chr1:241935203-241935204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201661383	chr1:241935232-241935233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369287433	chr1:241935239-241935240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199704884	chr1:241935240-241935241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534160484	chr1:241935242-241935243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201206139	chr1:241935243-241935244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201907388	chr1:241935245-241935246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199824360	chr1:241935246-241935247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200844483	chr1:241935247-241935248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200248220	chr1:241935249-241935250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71535342	chr1:241935251-241935252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71535341	chr1:241935253-241935254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376393017	chr1:241935257-241935258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376154728	chr1:241935261-241935262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187596913	chr1:241935267-241935268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192370051	chr1:241935269-241935270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57383177	chr1:241935290-241935291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369140620	chr1:241935293-241935294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Glioblastoma	18772890	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Brain overgrowth syndrome	24179207	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241931400-241937600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:241934000-241937200	Weak transcription	K562	blood
3	chr1:241936000-241936200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:241936000-241937600	Enhancers	Placenta	Placenta

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