Variant report

Variant	esv1822179
Chromosome Location	chr5:178111284-178113183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7732325	chr5:178111284-178111285	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180873606	chr5:178111318-178111319	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs78794063	chr5:178111320-178111321	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547579187	chr5:178111333-178111334	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs149489803	chr5:178111354-178111355	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs17081596	chr5:178111441-178111442	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs55761260	chr5:178111475-178111476	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145929757	chr5:178111480-178111481	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139831677	chr5:178111542-178111543	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550429330	chr5:178111614-178111615	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185478675	chr5:178111664-178111665	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs75067673	chr5:178111748-178111749	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs116224593	chr5:178111758-178111759	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189885022	chr5:178111765-178111766	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539106746	chr5:178111820-178111821	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557377383	chr5:178111849-178111850	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs111768705	chr5:178111908-178111909	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575969143	chr5:178111917-178111918	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs34150795	chr5:178111935-178111936	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181928503	chr5:178111963-178111964	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562029898	chr5:178111977-178111978	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573823733	chr5:178111978-178111979	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138778883	chr5:178112048-178112049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542041283	chr5:178112051-178112052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541227333	chr5:178112063-178112064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112695693	chr5:178112071-178112072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200278192	chr5:178112072-178112073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59608994	chr5:178112074-178112075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187570988	chr5:178112075-178112076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559545933	chr5:178112130-178112131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17081600	chr5:178112195-178112196	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545402621	chr5:178112198-178112199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565620321	chr5:178112218-178112219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552703304	chr5:178112284-178112285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11955058	chr5:178112322-178112323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191454222	chr5:178112326-178112327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143463661	chr5:178112330-178112331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568758710	chr5:178112406-178112407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183806578	chr5:178112471-178112472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372125716	chr5:178112523-178112524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547594298	chr5:178112532-178112533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561494913	chr5:178112575-178112576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541874606	chr5:178112601-178112602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565931378	chr5:178112679-178112680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539174877	chr5:178112682-178112683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557817368	chr5:178112715-178112716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576020552	chr5:178112729-178112730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537070183	chr5:178112739-178112740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562366082	chr5:178112775-178112776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573886943	chr5:178112794-178112795	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	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
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
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178110200-178113200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:178110400-178111800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:178110800-178111600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr5:178110800-178111800	Enhancers	K562	blood
5	chr5:178110800-178112000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr5:178111600-178113400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:178112000-178115400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:178112200-178112800	Enhancers	Placenta	Placenta
9	chr5:178112800-178113400	Flanking Active TSS	Placenta	Placenta

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