Variant report

Variant	nsv970958
Chromosome Location	chr7:146602783-146610231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555267917	chr7:146602785-146602786	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572287607	chr7:146602793-146602794	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534748012	chr7:146602797-146602798	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115843478	chr7:146602798-146602799	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs116248377	chr7:146602828-146602829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543866944	chr7:146602858-146602859	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563896813	chr7:146602866-146602867	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs80191864	chr7:146602875-146602876	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143709342	chr7:146602897-146602898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187930345	chr7:146602904-146602905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192016492	chr7:146602909-146602910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528781033	chr7:146602910-146602911	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs35335216	chr7:146602928-146602929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547079997	chr7:146602931-146602932	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564069152	chr7:146602932-146602933	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10225179	chr7:146602937-146602938	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138245215	chr7:146602938-146602939	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs370147004	chr7:146602967-146602968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533689486	chr7:146602974-146602975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs140588738	chr7:146602975-146602976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376121952	chr7:146602979-146602980	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535297714	chr7:146602980-146602981	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs548754901	chr7:146602994-146602995	Active TSS	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
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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146602200-146602800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr7:146602600-146602800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:146602800-146603000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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