Variant report

Variant	esv3417937
Chromosome Location	chr7:147213653-147214008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556294801	chr7:147213679-147213680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541557161	chr7:147213710-147213711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113364677	chr7:147213711-147213712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201057972	chr7:147213713-147213714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79313639	chr7:147213714-147213715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569987662	chr7:147213715-147213716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74874697	chr7:147213717-147213718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147839111	chr7:147213725-147213726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57432295	chr7:147213734-147213735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10681580	chr7:147213737-147213738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117473835	chr7:147213744-147213745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369997365	chr7:147213766-147213767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545366808	chr7:147213785-147213786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554182682	chr7:147213789-147213790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556139120	chr7:147213792-147213793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114254096	chr7:147213817-147213818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62481288	chr7:147213867-147213868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73461142	chr7:147213878-147213879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs151091266	chr7:147213889-147213890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576879428	chr7:147213900-147213901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200700029	chr7:147213931-147213932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376024507	chr7:147213935-147213936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377153239	chr7:147213940-147213941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77909666	chr7:147213942-147213943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531359416	chr7:147213944-147213945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75743003	chr7:147213956-147213957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60850291	chr7:147213958-147213959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78000653	chr7:147213959-147213960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113026557	chr7:147213960-147213961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572301632	chr7:147213961-147213962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562344854	chr7:147213987-147213988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11764011	chr7:147214001-147214002	Weak transcription	n/a	n/a	Overlapped CNVs	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
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	chr7:147210000-147216400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:147210600-147221600	Weak transcription	Osteobl	bone
3	chr7:147211000-147216200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:147212200-147214400	Weak transcription	Brain Cingulate Gyrus	brain

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