Variant report

Variant	esv3437811
Chromosome Location	chr3:111929311-111950399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 622 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560481394	chr3:111929362-111929363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4682092	chr3:111929452-111929453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9819540	chr3:111929490-111929491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569066839	chr3:111929492-111929493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550764441	chr3:111929529-111929530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538186373	chr3:111929581-111929582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142864755	chr3:111929586-111929587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571143370	chr3:111929630-111929631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561191576	chr3:111929660-111929661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533610532	chr3:111929681-111929682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184585765	chr3:111929710-111929711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569190530	chr3:111929718-111929719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188688883	chr3:111929726-111929727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9837375	chr3:111929727-111929728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556167336	chr3:111929728-111929729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575842622	chr3:111929805-111929806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544915834	chr3:111929807-111929808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564504705	chr3:111929823-111929824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578226296	chr3:111929827-111929828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540702203	chr3:111930001-111930002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560571338	chr3:111930071-111930072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9841885	chr3:111930134-111930135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549098267	chr3:111930135-111930136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562928483	chr3:111930158-111930159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566459114	chr3:111930171-111930172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13096855	chr3:111930172-111930173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571082367	chr3:111930230-111930231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533743379	chr3:111930231-111930232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60499107	chr3:111930238-111930239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386664659	chr3:111930239-111930240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111894678	chr3:111930241-111930242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150585120	chr3:111930258-111930259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115666886	chr3:111930259-111930260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6764248	chr3:111930289-111930290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs71618774	chr3:111930299-111930300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6764064	chr3:111930300-111930301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs180759511	chr3:111930308-111930309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369748345	chr3:111930309-111930310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140658297	chr3:111930347-111930348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13327160	chr3:111930387-111930388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554446771	chr3:111930403-111930404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185371550	chr3:111930404-111930405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546432544	chr3:111930409-111930410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574160544	chr3:111930413-111930414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543142799	chr3:111930415-111930416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190965348	chr3:111930421-111930422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147773937	chr3:111930422-111930423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540398172	chr3:111930424-111930425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544929894	chr3:111930427-111930428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59653496	chr3:111930433-111930434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Attention deficit hyperactivity disorder	22180640	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111913200-111930000	Weak transcription	Left Ventricle	heart
2	chr3:111930000-111930400	Weak transcription	Aorta	Aorta
3	chr3:111930400-111930600	Weak transcription	Left Ventricle	heart
4	chr3:111930600-111930800	ZNF genes & repeats	Aorta	Aorta
5	chr3:111937000-111942800	Weak transcription	Left Ventricle	heart
6	chr3:111939200-111939600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:111942400-111952400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:111942800-111943000	ZNF genes & repeats	Gastric	stomach
9	chr3:111942800-111943000	ZNF genes & repeats	Pancreas	Pancrea
10	chr3:111942800-111943200	ZNF genes & repeats	Left Ventricle	heart
11	chr3:111943200-111945200	Weak transcription	Left Ventricle	heart
12	chr3:111945200-111945600	ZNF genes & repeats	Left Ventricle	heart
13	chr3:111945600-111950600	Weak transcription	Left Ventricle	heart
14	chr3:111946800-111948200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:111949000-111949200	Enhancers	HUES48 Cell Line	embryonic stem cell

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