Variant report

Variant	esv275171
Chromosome Location	chr1:175027972-175031108
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	chr1:175029280..175031926-chr1:175034008..175036600,2	MCF-7	breast:
2	chr1:175028783..175030971-chr1:175038361..175041126,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16847772	chr1:175029893-175029894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6672099	chr1:175029932-175029933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs569300575	chr1:175029963-175029964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75837777	chr1:175029964-175029965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551342243	chr1:175030024-175030025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375769932	chr1:175030056-175030057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189585846	chr1:175030140-175030141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539514628	chr1:175030145-175030146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181593736	chr1:175030153-175030154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150796959	chr1:175030177-175030178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536819147	chr1:175030184-175030185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6669899	chr1:175030190-175030191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575276421	chr1:175030194-175030195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544357524	chr1:175030260-175030261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12120087	chr1:175030264-175030265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564061965	chr1:175030275-175030276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577759281	chr1:175030278-175030279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540235988	chr1:175030291-175030292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35082058	chr1:175030299-175030300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560356733	chr1:175030357-175030358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72121681	chr1:175030359-175030360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6683594	chr1:175030367-175030368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202086576	chr1:175030368-175030369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376871375	chr1:175030369-175030370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs398052677	chr1:175030375-175030376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71573013	chr1:175030400-175030401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76281231	chr1:175030406-175030407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74804336	chr1:175030408-175030409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61827390	chr1:175030410-175030411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111600430	chr1:175030411-175030412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4433352	chr1:175030412-175030413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144241034	chr1:175030422-175030423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186315351	chr1:175030449-175030450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533890010	chr1:175030466-175030467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547401420	chr1:175030533-175030534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567918289	chr1:175030556-175030557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371075019	chr1:175030593-175030594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117577418	chr1:175030663-175030664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140060214	chr1:175030668-175030669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537935513	chr1:175030680-175030681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557840734	chr1:175030684-175030685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577822808	chr1:175030731-175030732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143708775	chr1:175030770-175030771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146830035	chr1:175030771-175030772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11578419	chr1:175030788-175030789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs542591615	chr1:175030888-175030889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371440814	chr1:175030893-175030894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562696496	chr1:175030903-175030904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560079117	chr1:175031003-175031004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531452504	chr1:175031058-175031059	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175029800-175032000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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