Variant report

Variant	esv275461
Chromosome Location	chr7:147427757-147436087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:147404762..147407005-chr7:147435250..147437338,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145012017	chr7:147428019-147428020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78762518	chr7:147428020-147428021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112732748	chr7:147428034-147428035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567821938	chr7:147428041-147428042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202235141	chr7:147428050-147428051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111605803	chr7:147428071-147428072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550411017	chr7:147428101-147428102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111580698	chr7:147428113-147428114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73472857	chr7:147428191-147428192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149077203	chr7:147428194-147428195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538335151	chr7:147428204-147428205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10281915	chr7:147428218-147428219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6965796	chr7:147428225-147428226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181332410	chr7:147428226-147428227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554445716	chr7:147428239-147428240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186709500	chr7:147428256-147428257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78539008	chr7:147428258-147428259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369535685	chr7:147428339-147428340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145060675	chr7:147428356-147428357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528542442	chr7:147434408-147434409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551395548	chr7:147434432-147434433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571322826	chr7:147434446-147434447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148739580	chr7:147434463-147434464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551266172	chr7:147434473-147434474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10215975	chr7:147434497-147434498	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536898971	chr7:147434498-147434499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs185834912	chr7:147434517-147434518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs151253157	chr7:147434520-147434521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs189851813	chr7:147434528-147434529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs12530977	chr7:147434534-147434535	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs57163289	chr7:147434552-147434553	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564563803	chr7:147434557-147434558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs7809690	chr7:147434558-147434559	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573847897	chr7:147434584-147434585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs7809709	chr7:147434588-147434589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs371898848	chr7:147434592-147434593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs181173670	chr7:147434608-147434609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs545103357	chr7:147434620-147434621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs151228594	chr7:147434640-147434641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs147967242	chr7:147434643-147434644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs7809841	chr7:147434648-147434649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs10215979	chr7:147434650-147434651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs146385498	chr7:147434652-147434653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs567979102	chr7:147434655-147434656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374910658	chr7:147434667-147434668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7810907	chr7:147434686-147434687	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530019540	chr7:147434687-147434688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548147432	chr7:147434711-147434712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554753773	chr7:147434721-147434722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs142587831	chr7:147434727-147434728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147428000-147428400	Enhancers	Fetal Lung	lung
2	chr7:147434400-147435200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:147434800-147435200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:147436000-147437800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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