Variant report

Variant	esv1799538
Chromosome Location	chr5:117143893-117146807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545693139	chr5:117144808-117144809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147972055	chr5:117144845-117144846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199902609	chr5:117144874-117144875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369997546	chr5:117144878-117144879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199660737	chr5:117144879-117144880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565591965	chr5:117144920-117144921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73785276	chr5:117144941-117144942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145592872	chr5:117144981-117144982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560771680	chr5:117145000-117145001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148889257	chr5:117145016-117145017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79420430	chr5:117145025-117145026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563121580	chr5:117145065-117145066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144092858	chr5:117145066-117145067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146826973	chr5:117145078-117145079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556741048	chr5:117145110-117145111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140593351	chr5:117145151-117145152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533894169	chr5:117145154-117145155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547765514	chr5:117145161-117145162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567702190	chr5:117145176-117145177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576583293	chr5:117145210-117145211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56402034	chr5:117145234-117145235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556720245	chr5:117145262-117145263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370771111	chr5:117145269-117145270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73785277	chr5:117145305-117145306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577648087	chr5:117145327-117145328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539234239	chr5:117145420-117145421	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs145677295	chr5:117145427-117145428	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs555015428	chr5:117145451-117145452	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs544517909	chr5:117145465-117145466	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558941078	chr5:117145467-117145468	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572698556	chr5:117145503-117145504	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs148091679	chr5:117145521-117145522	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554536114	chr5:117145522-117145523	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs9327057	chr5:117145544-117145545	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561209983	chr5:117145595-117145596	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117144800-117145400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:117144800-117145600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:117145400-117145600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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