Variant report

Variant	esv3403517
Chromosome Location	chr7:146417669-146419617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566046354	chr7:146417768-146417769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528516787	chr7:146417780-146417781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186100952	chr7:146417785-146417786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577621391	chr7:146417858-146417859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73168719	chr7:146417865-146417866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191827387	chr7:146417869-146417870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557578778	chr7:146417871-146417872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567761322	chr7:146417876-146417877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs118105129	chr7:146417890-146417891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73168722	chr7:146417912-146417913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73168724	chr7:146417921-146417922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534350834	chr7:146417985-146417986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557422749	chr7:146418013-146418014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577714630	chr7:146418050-146418051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369722560	chr7:146418053-146418054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144102854	chr7:146418055-146418056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182449287	chr7:146418059-146418060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71525965	chr7:146418070-146418071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71165032	chr7:146418078-146418079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186639102	chr7:146418081-146418082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372212103	chr7:146418082-146418083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573772527	chr7:146418093-146418094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71525966	chr7:146418114-146418115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71165033	chr7:146418122-146418123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199534327	chr7:146418131-146418132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200746067	chr7:146418133-146418134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117433520	chr7:146418197-146418198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559710858	chr7:146418212-146418213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190748049	chr7:146418260-146418261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374422414	chr7:146418264-146418265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201160019	chr7:146418305-146418306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182613189	chr7:146418323-146418324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187317116	chr7:146418358-146418359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199790836	chr7:146418412-146418413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189826481	chr7:146418431-146418432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182350653	chr7:146418455-146418456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187891295	chr7:146418463-146418464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530987582	chr7:146418466-146418467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs344469	chr7:146418490-146418491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185809395	chr7:146418503-146418504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536469080	chr7:146418532-146418533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546874427	chr7:146418557-146418558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188327762	chr7:146418571-146418572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192267578	chr7:146418604-146418605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557285109	chr7:146418636-146418637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183983774	chr7:146418687-146418688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188367088	chr7:146418697-146418698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181236466	chr7:146418731-146418732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184168063	chr7:146418737-146418738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189544952	chr7:146418742-146418743	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146417000-146417800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:146417000-146417800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:146417600-146417800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:146417800-146422600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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