Variant report

Variant	esv3320826
Chromosome Location	chr1:172759209-172762035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172760530..172762730-chr1:172764972..172766602,2	K562	blood:
2	chr1:172760760..172762730-chr1:172765007..172766602,2	K562	blood:
3	chr1:172759394..172761013-chr1:172762857..172764980,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73041842	chr1:172759218-172759219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527869543	chr1:172759238-172759239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544266239	chr1:172759280-172759281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563970014	chr1:172759331-172759332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576036075	chr1:172759365-172759366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546403291	chr1:172759371-172759372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564542739	chr1:172759422-172759423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140377986	chr1:172759446-172759447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546783771	chr1:172759455-172759456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531535553	chr1:172759471-172759472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562074619	chr1:172759587-172759588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112072492	chr1:172759632-172759633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75575872	chr1:172759639-172759640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199977671	chr1:172759640-172759641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186627261	chr1:172759657-172759658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568786580	chr1:172759660-172759661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539379025	chr1:172759665-172759666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374018959	chr1:172759714-172759715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551127091	chr1:172759773-172759774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192276755	chr1:172759774-172759775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150358805	chr1:172759783-172759784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533836149	chr1:172759811-172759812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555178416	chr1:172759844-172759845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573729098	chr1:172759901-172759902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537819997	chr1:172759902-172759903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571096320	chr1:172759929-172759930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183032875	chr1:172759940-172759941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115019671	chr1:172759947-172759948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546544192	chr1:172759963-172759964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564658807	chr1:172760018-172760019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573369409	chr1:172760025-172760026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188681503	chr1:172760047-172760048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113883673	chr1:172760048-172760049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556478700	chr1:172760072-172760073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571533551	chr1:172760105-172760106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529372177	chr1:172760118-172760119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs859715	chr1:172760122-172760123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:93)

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
Intellectual disability	22102821	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172759000-172760200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:172759200-172760000	Enhancers	Placenta Amnion	Placenta Amnion

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