Variant report

Variant	nsv966907
Chromosome Location	chr7:146517045-146524484
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142168382	chr7:146522062-146522063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111827925	chr7:146522064-146522065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191099876	chr7:146522103-146522104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370753148	chr7:146522130-146522131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56270111	chr7:146522137-146522138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57539017	chr7:146522138-146522139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376725928	chr7:146522165-146522166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73170351	chr7:146522200-146522201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561119507	chr7:146522308-146522309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529959215	chr7:146522312-146522313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546844562	chr7:146522330-146522331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182805476	chr7:146522336-146522337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532411407	chr7:146522346-146522347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151185190	chr7:146522351-146522352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569039212	chr7:146522356-146522357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537934330	chr7:146522361-146522362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140287213	chr7:146522385-146522386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185287072	chr7:146522416-146522417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113212187	chr7:146522469-146522470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534231306	chr7:146522501-146522502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554407558	chr7:146522507-146522508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62481404	chr7:146522528-146522529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150022496	chr7:146522532-146522533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190046231	chr7:146522535-146522536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145237382	chr7:146522537-146522538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544259546	chr7:146522567-146522568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567137396	chr7:146522574-146522575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182298299	chr7:146522587-146522588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368180139	chr7:146522623-146522624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574528357	chr7:146522658-146522659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552052160	chr7:146522663-146522664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7809945	chr7:146522667-146522668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549356019	chr7:146522752-146522753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142367315	chr7:146522789-146522790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531737764	chr7:146522806-146522807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550105068	chr7:146522808-146522809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545828282	chr7:146522849-146522850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562509973	chr7:146522869-146522870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146308209	chr7:146522895-146522896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548619278	chr7:146522920-146522921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139369327	chr7:146522931-146522932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527930256	chr7:146522982-146522983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532606386	chr7:146523038-146523039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547668849	chr7:146523040-146523041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571187676	chr7:146523059-146523060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188606006	chr7:146523061-146523062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371606410	chr7:146523087-146523088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377297305	chr7:146523088-146523089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568841508	chr7:146523115-146523116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537546881	chr7:146523144-146523145	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146522000-146523800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:146522400-146525000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:146522600-146523800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:146522600-146523800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:146522800-146523000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:146522800-146523800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:146522800-146523800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:146522800-146524200	Enhancers	Brain Germinal Matrix	brain
9	chr7:146523000-146523600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:146523000-146523800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:146523200-146523800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:146523200-146523800	Enhancers	Fetal Brain Female	brain
13	chr7:146523600-146523800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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