Variant report

Variant	esv3463779
Chromosome Location	chr3:111243862-111250360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 307 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113756996	chr3:111243871-111243872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373004608	chr3:111243873-111243874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180759261	chr3:111243888-111243889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554805748	chr3:111243920-111243921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140665220	chr3:111243922-111243923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375739852	chr3:111243946-111243947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112834640	chr3:111243947-111243948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557034568	chr3:111243955-111243956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570808894	chr3:111243973-111243974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148163899	chr3:111243975-111243976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545910674	chr3:111243976-111243977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185134871	chr3:111244017-111244018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527852225	chr3:111244020-111244021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377096074	chr3:111244060-111244061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142031764	chr3:111244074-111244075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561200629	chr3:111244096-111244097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189168478	chr3:111244145-111244146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373518201	chr3:111244147-111244148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150608629	chr3:111244188-111244189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112115040	chr3:111244241-111244242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181887800	chr3:111244245-111244246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143075788	chr3:111244272-111244273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374975232	chr3:111244273-111244274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73226209	chr3:111244274-111244275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185845437	chr3:111244333-111244334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534766101	chr3:111244339-111244340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554512571	chr3:111244344-111244345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371405712	chr3:111244405-111244406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115514029	chr3:111244409-111244410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369135008	chr3:111244422-111244423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537375420	chr3:111244423-111244424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556973140	chr3:111244470-111244471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57998235	chr3:111244475-111244476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376284905	chr3:111244476-111244477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147489793	chr3:111244494-111244495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112999228	chr3:111244497-111244498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541611375	chr3:111244534-111244535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113001553	chr3:111244568-111244569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191738335	chr3:111244569-111244570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4306850	chr3:111244642-111244643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35553560	chr3:111244643-111244644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563662776	chr3:111244651-111244652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111256231	chr3:111244653-111244654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112097812	chr3:111244738-111244739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373542533	chr3:111244739-111244740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528617541	chr3:111244791-111244792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191492214	chr3:111244810-111244811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182400199	chr3:111244811-111244812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34780071	chr3:111244814-111244815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs57656690	chr3:111244815-111244816	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:14 , 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
6	chr3:111249000-111250800	Enhancers	Primary B cells from peripheral blood	blood
7	chr3:111249600-111249800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:111249800-111250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:111250000-111250800	Enhancers	Osteobl	bone
10	chr3:111250000-111251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:111250200-111250400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:111250200-111250400	Enhancers	HSMMtube	muscle
13	chr3:111250200-111250600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:111250200-111250800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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