Variant report

Variant	esv3495314
Chromosome Location	chr7:118731764-118733986
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	chr7:118629006..118631002-chr7:118732998..118734533,2	K562	blood:
2	chr7:118733515..118736474-chr7:118742172..118744304,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 82 )

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	rs545860765	chr7:118731783-118731784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562629460	chr7:118731786-118731787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531817673	chr7:118731811-118731812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200368517	chr7:118731883-118731884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567266539	chr7:118731885-118731886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201560413	chr7:118731886-118731887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548368462	chr7:118731913-118731914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61234077	chr7:118731914-118731915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13232118	chr7:118731950-118731951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183736358	chr7:118732021-118732022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79085287	chr7:118732101-118732102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546280692	chr7:118732105-118732106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545563179	chr7:118732119-118732120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114596268	chr7:118732122-118732123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564074990	chr7:118732127-118732128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538370018	chr7:118732171-118732172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79655560	chr7:118732181-118732182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552335700	chr7:118732183-118732184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568951006	chr7:118732193-118732194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538079827	chr7:118732217-118732218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147176885	chr7:118732218-118732219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551623878	chr7:118732226-118732227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74920272	chr7:118732228-118732229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78273832	chr7:118732238-118732239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140410215	chr7:118732256-118732257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543100677	chr7:118732291-118732292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144362517	chr7:118732318-118732319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115261878	chr7:118732339-118732340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577204988	chr7:118732347-118732348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147829698	chr7:118732356-118732357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562692049	chr7:118732359-118732360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528857604	chr7:118732362-118732363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576116632	chr7:118732390-118732391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114111335	chr7:118732414-118732415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141399453	chr7:118732424-118732425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527995548	chr7:118732442-118732443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188409802	chr7:118732463-118732464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564608997	chr7:118732494-118732495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181266804	chr7:118732518-118732519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552193237	chr7:118732531-118732532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186774003	chr7:118732576-118732577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567804635	chr7:118732578-118732579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537894558	chr7:118732586-118732587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113645458	chr7:118732606-118732607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568214169	chr7:118732634-118732635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111833790	chr7:118732635-118732636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533734633	chr7:118732668-118732669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373349145	chr7:118732684-118732685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191615284	chr7:118732692-118732693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539486946	chr7:118732693-118732694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118724600-118735200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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