Variant report

Variant	esv2426667
Chromosome Location	chr14:40834574-40836140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547604093	chr14:40834585-40834586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567811722	chr14:40834595-40834596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536432280	chr14:40834602-40834603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190171520	chr14:40834630-40834631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576459992	chr14:40834640-40834641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35402879	chr14:40834646-40834647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539078956	chr14:40834664-40834665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558952152	chr14:40834698-40834699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144366095	chr14:40834733-40834734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558591794	chr14:40834740-40834741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570545317	chr14:40834751-40834752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541305958	chr14:40834832-40834833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1952943	chr14:40834894-40834895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1958894	chr14:40834911-40834912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1958895	chr14:40834928-40834929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141042955	chr14:40834981-40834982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532037036	chr14:40834994-40834995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562121843	chr14:40834999-40835000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551755987	chr14:40835039-40835040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148709499	chr14:40835079-40835080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574655005	chr14:40835081-40835082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542062083	chr14:40835091-40835092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527991815	chr14:40835095-40835096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188186112	chr14:40835151-40835152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567843321	chr14:40835174-40835175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578168997	chr14:40835181-40835182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370982069	chr14:40835182-40835183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78700660	chr14:40835190-40835191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115211231	chr14:40835225-40835226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570146233	chr14:40835253-40835254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539089016	chr14:40835276-40835277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79938631	chr14:40835311-40835312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192974904	chr14:40835325-40835326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185257937	chr14:40835329-40835330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188086855	chr14:40835330-40835331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574635270	chr14:40835394-40835395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1952945	chr14:40835431-40835432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200092713	chr14:40835448-40835449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200670216	chr14:40835450-40835451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201945313	chr14:40835451-40835452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61281120	chr14:40835452-40835453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147466266	chr14:40835462-40835463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561748995	chr14:40835469-40835470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566449745	chr14:40835489-40835490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139953797	chr14:40835503-40835504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564151883	chr14:40835538-40835539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528106043	chr14:40835572-40835573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541458805	chr14:40835594-40835595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117606162	chr14:40835600-40835601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142893849	chr14:40835624-40835625	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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40831200-40835800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:40833800-40835000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:40834200-40834800	Enhancers	Brain Germinal Matrix	brain
4	chr14:40834400-40835400	Enhancers	Dnd41	blood

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