Variant report

Variant	esv3332551
Chromosome Location	chr1:221124679-221127177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545312203	chr1:221126426-221126427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572460239	chr1:221126443-221126444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188711834	chr1:221126450-221126451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78577673	chr1:221126471-221126472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577862702	chr1:221126492-221126493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140539422	chr1:221126502-221126503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193218787	chr1:221126517-221126518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372764022	chr1:221126527-221126528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2784277	chr1:221126591-221126592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549177956	chr1:221126667-221126668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145913717	chr1:221126685-221126686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528487601	chr1:221126686-221126687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138462983	chr1:221126835-221126836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571546739	chr1:221126845-221126846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116372487	chr1:221126862-221126863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550768146	chr1:221126886-221126887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76325887	chr1:221126904-221126905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567321392	chr1:221126913-221126914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10779417	chr1:221126914-221126915	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552610110	chr1:221126926-221126927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572545364	chr1:221126963-221126964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116009504	chr1:221126977-221126978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144489078	chr1:221127007-221127008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558056562	chr1:221127019-221127020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578184320	chr1:221127020-221127021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529347054	chr1:221127022-221127023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543156657	chr1:221127071-221127072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543721375	chr1:221127112-221127113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557551826	chr1:221127136-221127137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574100886	chr1:221127149-221127150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221126400-221132400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:221126600-221131600	Enhancers	HSMM	muscle
3	chr1:221126600-221131600	Enhancers	HSMMtube	muscle
4	chr1:221126600-221132600	Enhancers	NHDF-Ad	bronchial
5	chr1:221126800-221127000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:221126800-221130600	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links