Variant report

Variant	esv3462266
Chromosome Location	chr3:103078940-103097020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113450482	chr3:103088830-103088831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548463640	chr3:103088843-103088844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567584100	chr3:103088848-103088849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148927796	chr3:103088881-103088882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556256673	chr3:103088895-103088896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564376543	chr3:103088912-103088913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11706808	chr3:103088982-103088983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34469556	chr3:103089022-103089023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540374511	chr3:103089031-103089032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9853092	chr3:103089083-103089084	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs193265578	chr3:103089113-103089114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572589886	chr3:103089132-103089133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542998141	chr3:103089138-103089139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72966242	chr3:103089139-103089140	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6806931	chr3:103089194-103089195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs116058971	chr3:103089195-103089196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185425911	chr3:103089254-103089255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560074745	chr3:103089266-103089267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373878240	chr3:103089267-103089268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397951367	chr3:103089286-103089287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74493991	chr3:103089287-103089288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550715798	chr3:103089295-103089296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72966244	chr3:103089299-103089300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563643892	chr3:103089317-103089318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188754435	chr3:103089357-103089358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559635966	chr3:103089381-103089382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368453347	chr3:103089409-103089410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192960584	chr3:103089435-103089436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548224089	chr3:103089462-103089463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569900755	chr3:103089472-103089473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6767264	chr3:103089500-103089501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151057980	chr3:103089512-103089513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560949814	chr3:103089524-103089525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115312453	chr3:103089535-103089536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199751991	chr3:103089538-103089539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142561784	chr3:103089589-103089590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553845351	chr3:103089591-103089592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35532174	chr3:103089633-103089634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6792532	chr3:103089635-103089636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570699980	chr3:103089645-103089646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148406243	chr3:103089646-103089647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536835843	chr3:103089666-103089667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554977824	chr3:103089675-103089676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72966245	chr3:103089722-103089723	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184479825	chr3:103089729-103089730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558626373	chr3:103089730-103089731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72966246	chr3:103089759-103089760	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs79409420	chr3:103089761-103089762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188836775	chr3:103089804-103089805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115236913	chr3:103089824-103089825	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103088800-103089000	Enhancers	Fetal Brain Female	brain
2	chr3:103088800-103091000	Enhancers	Fetal Brain Male	brain
3	chr3:103089000-103089800	Weak transcription	Fetal Brain Female	brain
4	chr3:103089800-103091400	Enhancers	Fetal Brain Female	brain

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