Variant report

Variant	esv3345429
Chromosome Location	chr14:43523251-43549029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76472295	chr14:43528606-43528607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559063855	chr14:43528626-43528627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577202172	chr14:43528629-43528630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1954378	chr14:43528638-43528639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1954379	chr14:43528641-43528642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147322076	chr14:43528687-43528688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140745183	chr14:43528696-43528697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73334441	chr14:43528724-43528725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528732364	chr14:43528725-43528726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76859451	chr14:43528737-43528738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571794242	chr14:43528769-43528770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539539223	chr14:43531034-43531035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75316252	chr14:43531035-43531036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186295533	chr14:43531041-43531042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72668958	chr14:43531077-43531078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368017293	chr14:43531129-43531130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556388747	chr14:43531155-43531156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143274068	chr14:43531163-43531164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562667152	chr14:43531171-43531172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144680994	chr14:43531207-43531208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73334459	chr14:43531217-43531218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113663795	chr14:43531250-43531251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564194796	chr14:43531256-43531257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73334460	chr14:43531301-43531302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2488855	chr14:43531322-43531323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191222080	chr14:43531325-43531326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72668960	chr14:43531335-43531336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527703282	chr14:43531339-43531340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565932959	chr14:43531342-43531343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539675064	chr14:43531352-43531353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183012230	chr14:43531356-43531357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73334464	chr14:43531360-43531361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550593658	chr14:43531377-43531378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73334466	chr14:43531385-43531386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547755337	chr14:43531396-43531397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2488856	chr14:43531402-43531403	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
37	rs111916526	chr14:43531411-43531412	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74047539	chr14:43531432-43531433	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73334468	chr14:43531470-43531471	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150634948	chr14:43531479-43531480	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546052525	chr14:43531495-43531496	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139325835	chr14:43531496-43531497	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567629966	chr14:43531497-43531498	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377214260	chr14:43531512-43531513	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144091966	chr14:43531513-43531514	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538799381	chr14:43531545-43531546	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528932344	chr14:43531554-43531555	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113756229	chr14:43531559-43531560	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192870826	chr14:43531565-43531566	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533316766	chr14:43531575-43531576	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43528600-43528800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:43531000-43531400	Enhancers	A549	lung
3	chr14:43531400-43531600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:43531400-43532000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:43531400-43532000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:43531400-43532000	Active TSS	A549	lung
7	chr14:43531600-43532000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr14:43531600-43532000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:43531600-43532000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:43531600-43532000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:43531600-43532000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:43531600-43532000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:43531600-43532000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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