Variant report

Variant	esv3342063
Chromosome Location	chr5:167132274-167134447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577802856	chr5:167132339-167132340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10065273	chr5:167132340-167132341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371024176	chr5:167132405-167132406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574067257	chr5:167132472-167132473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201200065	chr5:167132489-167132490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78040966	chr5:167132492-167132493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572923917	chr5:167132500-167132501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562894272	chr5:167132568-167132569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116669429	chr5:167132583-167132584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375168430	chr5:167132586-167132587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185191250	chr5:167132588-167132589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79834744	chr5:167132591-167132592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545182505	chr5:167132675-167132676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189895567	chr5:167132680-167132681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565470637	chr5:167132710-167132711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572852798	chr5:167132789-167132790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527905599	chr5:167132818-167132819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72830079	chr5:167132833-167132834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140693639	chr5:167132878-167132879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183344553	chr5:167132885-167132886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530348728	chr5:167132935-167132936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188970332	chr5:167132940-167132941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368174120	chr5:167132971-167132972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201505361	chr5:167132985-167132986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202021783	chr5:167132987-167132988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536210854	chr5:167132988-167132989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142179445	chr5:167132989-167132990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375459913	chr5:167132993-167132994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12188128	chr5:167132994-167132995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7725015	chr5:167132998-167132999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530874006	chr5:167133035-167133036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2546989	chr5:167133095-167133096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537935881	chr5:167133105-167133106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557615135	chr5:167133280-167133281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72177106	chr5:167133282-167133283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374625684	chr5:167133351-167133352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193069441	chr5:167133358-167133359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577253641	chr5:167133372-167133373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56282759	chr5:167133390-167133391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532861527	chr5:167133396-167133397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374308670	chr5:167133397-167133398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183581611	chr5:167133411-167133412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544722036	chr5:167133464-167133465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556559050	chr5:167133500-167133501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367584485	chr5:167133584-167133585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371815369	chr5:167133713-167133714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562541311	chr5:167133722-167133723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576403086	chr5:167133737-167133738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545461162	chr5:167133738-167133739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574616564	chr5:167133748-167133749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167127200-167132600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:167129400-167137400	Weak transcription	HSMM	muscle
3	chr5:167130400-167137400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167131600-167133000	Enhancers	Fetal Lung	lung
5	chr5:167132600-167132800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:167132800-167143400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:167133000-167140000	Weak transcription	Fetal Lung	lung

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