Variant report

Variant	esv3468608
Chromosome Location	chr5:178110146-178115244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 222 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185687817	chr5:178110152-178110153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377655403	chr5:178110167-178110168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75531276	chr5:178110170-178110171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569273625	chr5:178110173-178110174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375127690	chr5:178110207-178110208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368046926	chr5:178110208-178110209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371904488	chr5:178110214-178110215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534524234	chr5:178110218-178110219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147120885	chr5:178110229-178110230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577577409	chr5:178110259-178110260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189877370	chr5:178110290-178110291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138473306	chr5:178110307-178110308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574459748	chr5:178110308-178110309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541902556	chr5:178110311-178110312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534368501	chr5:178110312-178110313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548054519	chr5:178110318-178110319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559766000	chr5:178110406-178110407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527273361	chr5:178110451-178110452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545727575	chr5:178110487-178110488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77856350	chr5:178110497-178110498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531623082	chr5:178110505-178110506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182040147	chr5:178110519-178110520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73334807	chr5:178110543-178110544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs141967123	chr5:178110626-178110627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76481071	chr5:178110628-178110629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386695484	chr5:178110634-178110635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566905657	chr5:178110648-178110649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs57538069	chr5:178110649-178110650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73334810	chr5:178110679-178110680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs202190693	chr5:178110705-178110706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538494199	chr5:178110888-178110889	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184682456	chr5:178110913-178110914	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs375534914	chr5:178110970-178110971	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs76617910	chr5:178110993-178110994	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541591247	chr5:178111006-178111007	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs150669344	chr5:178111008-178111009	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs188781475	chr5:178111012-178111013	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139067441	chr5:178111027-178111028	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs536714025	chr5:178111029-178111030	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs563691455	chr5:178111077-178111078	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs74485165	chr5:178111163-178111164	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs7732325	chr5:178111284-178111285	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs180873606	chr5:178111318-178111319	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs78794063	chr5:178111320-178111321	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547579187	chr5:178111333-178111334	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs149489803	chr5:178111354-178111355	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs17081596	chr5:178111441-178111442	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs55761260	chr5:178111475-178111476	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145929757	chr5:178111480-178111481	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs139831677	chr5:178111542-178111543	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178109400-178110800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:178109800-178110800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:178110200-178113200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:178110400-178111800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:178110800-178111200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:178110800-178111600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:178110800-178111800	Enhancers	K562	blood
8	chr5:178110800-178112000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr5:178111600-178113400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:178112000-178115400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:178112200-178112800	Enhancers	Placenta	Placenta
12	chr5:178112800-178113400	Flanking Active TSS	Placenta	Placenta
13	chr5:178113200-178115200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:178113400-178113800	Enhancers	Placenta	Placenta
15	chr5:178113400-178115000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:178115000-178115400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr5:178115200-178116400	Enhancers	Primary monocytes fromperipheralblood	blood

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