Variant report

Variant	esv2763922
Chromosome Location	chr5:113324270-113335389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73782108	chr5:113325205-113325206	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566053509	chr5:113325243-113325244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116259002	chr5:113325244-113325245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567471445	chr5:113325245-113325246	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538043831	chr5:113325279-113325280	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556754590	chr5:113325347-113325348	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571241234	chr5:113325392-113325393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191311460	chr5:113325403-113325404	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538756863	chr5:113325435-113325436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs2220033	chr5:113325436-113325437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559047607	chr5:113325473-113325474	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577249544	chr5:113325479-113325480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373751820	chr5:113325517-113325518	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs76467124	chr5:113325526-113325527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574802727	chr5:113325529-113325530	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373273951	chr5:113325540-113325541	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs542107728	chr5:113325609-113325610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116620017	chr5:113325613-113325614	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs553463591	chr5:113325624-113325625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs296490	chr5:113325680-113325681	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548047454	chr5:113325693-113325694	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs296491	chr5:113325740-113325741	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186173880	chr5:113325763-113325764	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549307094	chr5:113335224-113335225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570373839	chr5:113335228-113335229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11241256	chr5:113335230-113335231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531372685	chr5:113335247-113335248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549492219	chr5:113335277-113335278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571343176	chr5:113335279-113335280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538693845	chr5:113335313-113335314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374658598	chr5:113335330-113335331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs296501	chr5:113335389-113335390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113325200-113325600	Active TSS	HepG2	liver
2	chr5:113325400-113325800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:113325400-113325800	Active TSS	A549	lung
4	chr5:113335200-113336200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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