Variant report

Variant	esv16326
Chromosome Location	chr3:111243676-111247289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532289914	chr3:111243677-111243678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112369435	chr3:111243697-111243698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113764913	chr3:111243729-111243730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112605544	chr3:111243732-111243733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144688934	chr3:111243762-111243763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386664609	chr3:111243779-111243780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372549526	chr3:111243786-111243787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114680398	chr3:111243791-111243792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371073008	chr3:111243792-111243793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549767827	chr3:111243799-111243800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569813764	chr3:111243803-111243804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374096719	chr3:111243804-111243805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538789374	chr3:111243833-111243834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189373023	chr3:111243846-111243847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559031321	chr3:111243859-111243860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113756996	chr3:111243871-111243872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373004608	chr3:111243873-111243874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180759261	chr3:111243888-111243889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554805748	chr3:111243920-111243921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140665220	chr3:111243922-111243923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375739852	chr3:111243946-111243947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112834640	chr3:111243947-111243948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557034568	chr3:111243955-111243956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570808894	chr3:111243973-111243974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148163899	chr3:111243975-111243976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545910674	chr3:111243976-111243977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185134871	chr3:111244017-111244018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527852225	chr3:111244020-111244021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377096074	chr3:111244060-111244061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142031764	chr3:111244074-111244075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561200629	chr3:111244096-111244097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189168478	chr3:111244145-111244146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373518201	chr3:111244147-111244148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150608629	chr3:111244188-111244189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112115040	chr3:111244241-111244242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181887800	chr3:111244245-111244246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143075788	chr3:111244272-111244273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374975232	chr3:111244273-111244274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73226209	chr3:111244274-111244275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185845437	chr3:111244333-111244334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534766101	chr3:111244339-111244340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554512571	chr3:111244344-111244345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371405712	chr3:111244405-111244406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115514029	chr3:111244409-111244410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369135008	chr3:111244422-111244423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537375420	chr3:111244423-111244424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556973140	chr3:111244470-111244471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57998235	chr3:111244475-111244476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376284905	chr3:111244476-111244477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147489793	chr3:111244494-111244495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111236400-111249600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:111243400-111244200	Weak transcription	Placenta	Placenta
3	chr3:111243600-111249000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr3:111244200-111244400	Enhancers	Placenta	Placenta
5	chr3:111245600-111246000	Enhancers	Fetal Thymus	thymus

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