Variant report

Variant	esv12491
Chromosome Location	chr1:240219317-240225042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112895902	chr1:240219324-240219325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140756093	chr1:240219334-240219335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371223658	chr1:240219358-240219359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12066851	chr1:240219426-240219427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12092486	chr1:240219462-240219463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150119929	chr1:240219584-240219585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192923065	chr1:240219677-240219678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576814051	chr1:240219725-240219726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369801179	chr1:240219726-240219727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562476508	chr1:240219742-240219743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74943098	chr1:240219744-240219745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144870023	chr1:240219746-240219747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143062642	chr1:240219748-240219749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139460539	chr1:240219750-240219751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57612158	chr1:240219755-240219756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547822609	chr1:240219771-240219772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566473008	chr1:240219788-240219789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139426355	chr1:240219791-240219792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60520413	chr1:240219792-240219793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114857930	chr1:240219820-240219821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35106424	chr1:240219824-240219825	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539258037	chr1:240219830-240219831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58098260	chr1:240219852-240219853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146703093	chr1:240219853-240219854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558896765	chr1:240219866-240219867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545424123	chr1:240219868-240219869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368061086	chr1:240219875-240219876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374692310	chr1:240219876-240219877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61597647	chr1:240219945-240219946	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573191190	chr1:240220023-240220024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188351570	chr1:240220053-240220054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115089107	chr1:240220102-240220103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61828708	chr1:240220103-240220104	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs61828709	chr1:240220106-240220107	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12759127	chr1:240220116-240220117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61828710	chr1:240220139-240220140	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12744537	chr1:240220140-240220141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140332229	chr1:240220182-240220183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557416683	chr1:240220231-240220232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10926099	chr1:240220291-240220292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10926100	chr1:240220307-240220308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551870147	chr1:240220311-240220312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570553738	chr1:240220371-240220372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145496613	chr1:240220398-240220399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377487398	chr1:240220413-240220414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56045708	chr1:240220447-240220448	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201103132	chr1:240220449-240220450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148523225	chr1:240220451-240220452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372759970	chr1:240220452-240220453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572642506	chr1:240220471-240220472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240216400-240221800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:240217200-240220200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:240218000-240219400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:240219200-240220000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:240219200-240220000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:240219400-240219800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:240219800-240220000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:240219800-240220200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:240219800-240221200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:240220200-240221200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:240221200-240221600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:240221200-240221800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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