Variant report

Variant	nsv817278
Chromosome Location	chr7:146741106-146771077
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	chr7:146761282..146763181-chr7:146763573..146765951,2	K562	blood:
2	chr7:146761282..146763181-chr7:146763573..146765951,2	K562	blood:

Extended variants
information (count: 822 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:822 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373327134	chr7:146741822-146741823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376631418	chr7:146741823-146741824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144765735	chr7:146741824-146741825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370232600	chr7:146741826-146741827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373403333	chr7:146741827-146741828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557220021	chr7:146741829-146741830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190572921	chr7:146741849-146741850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535105611	chr7:146741851-146741852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138286295	chr7:146741855-146741856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555313650	chr7:146741884-146741885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572082796	chr7:146741914-146741915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541100856	chr7:146742002-146742003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564323271	chr7:146742041-146742042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566443157	chr7:146742057-146742058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149591776	chr7:146742084-146742085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563579068	chr7:146742099-146742100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12535177	chr7:146742100-146742101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147259581	chr7:146742109-146742110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111780315	chr7:146742130-146742131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560081085	chr7:146742136-146742137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528605277	chr7:146742199-146742200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551848517	chr7:146742221-146742222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527880566	chr7:146742260-146742261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1524343	chr7:146742267-146742268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561036244	chr7:146742281-146742282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73467030	chr7:146742310-146742311	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76032279	chr7:146742369-146742370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567639697	chr7:146742378-146742379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536914752	chr7:146742379-146742380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555098869	chr7:146742382-146742383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182775483	chr7:146742430-146742431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368158858	chr7:146742431-146742432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534462595	chr7:146742474-146742475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115386144	chr7:146742488-146742489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549736750	chr7:146742510-146742511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142964987	chr7:146742558-146742559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187059998	chr7:146742579-146742580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557159267	chr7:146742619-146742620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147452845	chr7:146742634-146742635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542883505	chr7:146742654-146742655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559533903	chr7:146742715-146742716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77771025	chr7:146742728-146742729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191483122	chr7:146742735-146742736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565038658	chr7:146742749-146742750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35196610	chr7:146742756-146742757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550739281	chr7:146742768-146742769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567286537	chr7:146742786-146742787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73467031	chr7:146742816-146742817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533588681	chr7:146742849-146742850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567828227	chr7:146742882-146742883	Weak transcription	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146741800-146742800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:146742800-146744600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:146744800-146745000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:146746800-146747000	Enhancers	Fetal Kidney	kidney
5	chr7:146749000-146750400	Enhancers	Fetal Lung	lung
6	chr7:146749400-146749600	Enhancers	Fetal Kidney	kidney
7	chr7:146749600-146750200	Weak transcription	Fetal Kidney	kidney
8	chr7:146750200-146750400	Enhancers	Fetal Kidney	kidney
9	chr7:146750400-146753400	Weak transcription	Fetal Lung	lung
10	chr7:146751000-146751400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:146751000-146751400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:146751000-146751400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:146752600-146752800	Enhancers	Gastric	stomach
14	chr7:146753400-146753600	Enhancers	Fetal Lung	lung
15	chr7:146753600-146754200	Weak transcription	Fetal Lung	lung
16	chr7:146754200-146755200	Enhancers	Fetal Lung	lung
17	chr7:146754600-146755000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:146756800-146757800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:146757000-146757400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:146757800-146758200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:146758200-146758400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr7:146758400-146760200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:146759600-146760200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:146760200-146760400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr7:146765800-146766200	Enhancers	Fetal Heart	heart
26	chr7:146767000-146767400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:146767400-146768000	Enhancers	Fetal Lung	lung
28	chr7:146767400-146768800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:146767800-146769600	Enhancers	Fetal Kidney	kidney
30	chr7:146768800-146769000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:146768800-146769400	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:146769000-146769200	Enhancers	Pancreas	Pancrea
33	chr7:146769200-146780200	Weak transcription	Pancreas	Pancrea
34	chr7:146769600-146777200	Weak transcription	Fetal Kidney	kidney

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