Variant report

Variant	esv3438146
Chromosome Location	chr7:146378069-146379367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569421750	chr7:146378238-146378239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10260447	chr7:146378314-146378315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148444337	chr7:146378343-146378344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10230303	chr7:146378410-146378411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187305330	chr7:146378411-146378412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142872098	chr7:146378502-146378503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114753318	chr7:146378520-146378521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74758671	chr7:146378522-146378523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111782740	chr7:146378531-146378532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs811895	chr7:146378543-146378544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58404206	chr7:146378742-146378743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs200404832	chr7:146378751-146378752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146049219	chr7:146378752-146378753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77698510	chr7:146378754-146378755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558736884	chr7:146378791-146378792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575411608	chr7:146378823-146378824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544527665	chr7:146378835-146378836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577420153	chr7:146378861-146378862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146106138	chr7:146378888-146378889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55834213	chr7:146378892-146378893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2533121	chr7:146378916-146378917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530147019	chr7:146378936-146378937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373946829	chr7:146378996-146378997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560530662	chr7:146379009-146379010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532642175	chr7:146379049-146379050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140072349	chr7:146379076-146379077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563132603	chr7:146379077-146379078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143625636	chr7:146379082-146379083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112858415	chr7:146379093-146379094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs66939445	chr7:146379102-146379103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201274427	chr7:146379103-146379104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563815751	chr7:146379104-146379105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398067376	chr7:146379105-146379106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111800247	chr7:146379107-146379108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112765755	chr7:146379108-146379109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530920564	chr7:146379126-146379127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566915320	chr7:146379129-146379130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544278175	chr7:146379168-146379169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148748291	chr7:146379208-146379209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529604141	chr7:146379223-146379224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200347688	chr7:146379266-146379267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61231420	chr7:146379272-146379273	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs146780629	chr7:146379277-146379278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538740918	chr7:146379279-146379280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73455275	chr7:146379291-146379292	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373634372	chr7:146379303-146379304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569060243	chr7:146379319-146379320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538132959	chr7:146379339-146379340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2533120	chr7:146379349-146379350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146378200-146378400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:146378400-146379400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:146379000-146379400	Enhancers	Stomach Mucosa	stomach
4	chr7:146379200-146380000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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