Variant report

Variant	nsv981855
Chromosome Location	chr7:146712688-146715800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:146715781..146717659-chr7:146720196..146724156,3	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114889218	chr7:146712788-146712789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540383868	chr7:146712815-146712816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6953691	chr7:146712866-146712867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs180771378	chr7:146712887-146712888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375537461	chr7:146712899-146712900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6953708	chr7:146712903-146712904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs17221522	chr7:146712937-146712938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547531950	chr7:146712954-146712955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571065395	chr7:146712971-146712972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539639943	chr7:146713036-146713037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147363809	chr7:146713078-146713079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540968438	chr7:146713100-146713101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556922580	chr7:146713150-146713151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570345774	chr7:146713152-146713153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12703876	chr7:146713180-146713181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs207468756	chr7:146713187-146713188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554630452	chr7:146713198-146713199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377154589	chr7:146713246-146713247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200636121	chr7:146713285-146713286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148201996	chr7:146713286-146713287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569215710	chr7:146713287-146713288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58754339	chr7:146713289-146713290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542967848	chr7:146713291-146713292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373820187	chr7:146713297-146713298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540334454	chr7:146713319-146713320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376238316	chr7:146713335-146713336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139442039	chr7:146713356-146713357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561106570	chr7:146713396-146713397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186496741	chr7:146713423-146713424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17170305	chr7:146713429-146713430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190873921	chr7:146713484-146713485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181610658	chr7:146713486-146713487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541675562	chr7:146713508-146713509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561755320	chr7:146713589-146713590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186972308	chr7:146713613-146713614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547915095	chr7:146713627-146713628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531792478	chr7:146713643-146713644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191807153	chr7:146713646-146713647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183134369	chr7:146713778-146713779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550409945	chr7:146713789-146713790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373815849	chr7:146713791-146713792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570237117	chr7:146713817-146713818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34665051	chr7:146713849-146713850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536162096	chr7:146713866-146713867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11982875	chr7:146713867-146713868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116744698	chr7:146713877-146713878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368613857	chr7:146713883-146713884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370938248	chr7:146713884-146713885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11982904	chr7:146713887-146713888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375731930	chr7:146713888-146713889	Weak transcription	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
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146710800-146713000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:146711000-146713000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:146712400-146715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:146715000-146715400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:146715200-146715600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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