Variant report

Variant	esv1811228
Chromosome Location	chr1:241594773-241596427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111752420	chr1:241594829-241594830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558788554	chr1:241594846-241594847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115039721	chr1:241594853-241594854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181427200	chr1:241594862-241594863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538074639	chr1:241594928-241594929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143648250	chr1:241594978-241594979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78756275	chr1:241595108-241595109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148121443	chr1:241595141-241595142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560404702	chr1:241595155-241595156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111940859	chr1:241595166-241595167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544960870	chr1:241595184-241595185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184501521	chr1:241595212-241595213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73133488	chr1:241595220-241595221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550379631	chr1:241595242-241595243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561111530	chr1:241595287-241595288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529904205	chr1:241595302-241595303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546923797	chr1:241595324-241595325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566728130	chr1:241595349-241595350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138049854	chr1:241595405-241595406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376685018	chr1:241595407-241595408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146792261	chr1:241595425-241595426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190127153	chr1:241595472-241595473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569142506	chr1:241595475-241595476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538364631	chr1:241595492-241595493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182293278	chr1:241595500-241595501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187067212	chr1:241595504-241595505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574733414	chr1:241595520-241595521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553279073	chr1:241595576-241595577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534078714	chr1:241595669-241595670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192359266	chr1:241595681-241595682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529157252	chr1:241595716-241595717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116467003	chr1:241595750-241595751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546163137	chr1:241595812-241595813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564921063	chr1:241595859-241595860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139202249	chr1:241595890-241595891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547739773	chr1:241595892-241595893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575125772	chr1:241595909-241595910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544332524	chr1:241595925-241595926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180701847	chr1:241595926-241595927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115790138	chr1:241596000-241596001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116160460	chr1:241596011-241596012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143319021	chr1:241596013-241596014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185082180	chr1:241596074-241596075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3014554	chr1:241596093-241596094	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs552166923	chr1:241596118-241596119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569282049	chr1:241596219-241596220	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531600347	chr1:241596255-241596256	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550721257	chr1:241596264-241596265	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534224355	chr1:241596330-241596331	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78089586	chr1:241596332-241596333	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	17603634	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
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 lymphomas	19863542	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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	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
Schizophrenia	17989066	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241594600-241595800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:241594600-241604200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:241594800-241595000	Enhancers	NHDF-Ad	bronchial
4	chr1:241595000-241595800	Weak transcription	NHDF-Ad	bronchial
5	chr1:241595200-241596800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:241595800-241596200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:241595800-241596200	Enhancers	HSMMtube	muscle
8	chr1:241595800-241596200	Enhancers	NHDF-Ad	bronchial
9	chr1:241596200-241596800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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