Variant report

Variant	nsv970777
Chromosome Location	chr7:146358313-146369940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556858414	chr7:146358321-146358322	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575129740	chr7:146358337-146358338	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs544226012	chr7:146358339-146358340	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574266609	chr7:146358377-146358378	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560636363	chr7:146358406-146358407	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs536757938	chr7:146358462-146358463	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs574164037	chr7:146358467-146358468	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs189404690	chr7:146358491-146358492	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1494456	chr7:146358510-146358511	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532373708	chr7:146358512-146358513	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs180993332	chr7:146358543-146358544	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187381684	chr7:146358545-146358546	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs377186734	chr7:146358558-146358559	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369676485	chr7:146358657-146358658	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs80328232	chr7:146358670-146358671	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs71165024	chr7:146358671-146358672	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs71956015	chr7:146358672-146358673	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200473775	chr7:146358674-146358675	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531591605	chr7:146358687-146358688	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35165250	chr7:146358710-146358711	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557200528	chr7:146358736-146358737	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs34652048	chr7:146358824-146358825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386411580	chr7:146358825-146358826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548566765	chr7:146358826-146358827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58432583	chr7:146358854-146358855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568488964	chr7:146358858-146358859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527739173	chr7:146358861-146358862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139835118	chr7:146358866-146358867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570948160	chr7:146358883-146358884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540072456	chr7:146358885-146358886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556559754	chr7:146358895-146358896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570363001	chr7:146358925-146358926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535764467	chr7:146358952-146358953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554118619	chr7:146358971-146358972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114948715	chr7:146358993-146358994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539928494	chr7:146358997-146358998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368693201	chr7:146358998-146358999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144104576	chr7:146359017-146359018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576938327	chr7:146359021-146359022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374529828	chr7:146359041-146359042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562801114	chr7:146359089-146359090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546012198	chr7:146359090-146359091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7797256	chr7:146359100-146359101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192108384	chr7:146359115-146359116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183374309	chr7:146359137-146359138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114275669	chr7:146359152-146359153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527349972	chr7:146359253-146359254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386719014	chr7:146359271-146359272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2533088	chr7:146359273-146359274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185977850	chr7:146359292-146359293	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Epilepsy	20502679	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146355000-146358400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:146357800-146358600	Enhancers	Fetal Lung	lung
3	chr7:146357800-146359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:146358000-146358600	Enhancers	Fetal Brain Male	brain
5	chr7:146358000-146358800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:146358200-146359600	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:146358400-146358600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:146358800-146359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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