Variant report

Variant	esv3512609
Chromosome Location	chr7:96522637-96523151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543464610	chr7:96522645-96522646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563150258	chr7:96522648-96522649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529084560	chr7:96522681-96522682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374397324	chr7:96522685-96522686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549037188	chr7:96522709-96522710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7799380	chr7:96522710-96522711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375008942	chr7:96522757-96522758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113471805	chr7:96522759-96522760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573209453	chr7:96522812-96522813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372371297	chr7:96522830-96522831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559582963	chr7:96522936-96522937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189358386	chr7:96522949-96522950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551547588	chr7:96522986-96522987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386715947	chr7:96523059-96523060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571216412	chr7:96523065-96523066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537154866	chr7:96523067-96523068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550685069	chr7:96523071-96523072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576143302	chr7:96523097-96523098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180805634	chr7:96523114-96523115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559692882	chr7:96523126-96523127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375494299	chr7:96523130-96523131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533154225	chr7:96523150-96523151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
lymphocytic leukemia	21291569	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
abnormal development	18461090	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96518000-96523400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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