Variant report

Variant	esv3410163
Chromosome Location	chr8:5654094-5656892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:5653098..5655133-chr8:5666888..5669291,2	MCF-7	breast:
2	chr8:5655115..5656724-chr8:5659683..5662268,2	K562	blood:

Extended variants
information (count: 222 )
Associated
traits (count: 125 )

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	rs75649961	chr8:5654118-5654119	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs78214112	chr8:5654122-5654123	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188920010	chr8:5654145-5654146	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181613497	chr8:5654150-5654151	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1512806	chr8:5654154-5654155	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547366810	chr8:5654157-5654158	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs114660494	chr8:5654160-5654161	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs12677018	chr8:5654167-5654168	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370669985	chr8:5654172-5654173	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530151470	chr8:5654179-5654180	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533306203	chr8:5654204-5654205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146033491	chr8:5654205-5654206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116345269	chr8:5654222-5654223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537339055	chr8:5654238-5654239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76375330	chr8:5654269-5654270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11136924	chr8:5654289-5654290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1398483	chr8:5654293-5654294	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553242783	chr8:5654298-5654299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577806734	chr8:5654301-5654302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184913044	chr8:5654304-5654305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556901409	chr8:5654305-5654306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575097082	chr8:5654332-5654333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542628023	chr8:5654338-5654339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114929029	chr8:5654339-5654340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375435365	chr8:5654347-5654348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12677050	chr8:5654355-5654356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139947095	chr8:5654356-5654357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559566594	chr8:5654358-5654359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141161775	chr8:5654365-5654366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74509032	chr8:5654393-5654394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555091705	chr8:5654407-5654408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563823027	chr8:5654419-5654420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530786267	chr8:5654456-5654457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537634323	chr8:5654472-5654473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189624744	chr8:5654481-5654482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12156005	chr8:5654482-5654483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs180832226	chr8:5654485-5654486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374291150	chr8:5654499-5654500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76038579	chr8:5654513-5654514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114713286	chr8:5654530-5654531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547833746	chr8:5654534-5654535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114201215	chr8:5654541-5654542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556751573	chr8:5654589-5654590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575300479	chr8:5654601-5654602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200426653	chr8:5654602-5654603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115863524	chr8:5654604-5654605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571427869	chr8:5654605-5654606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573991675	chr8:5654626-5654627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541353524	chr8:5654639-5654640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559504743	chr8:5654643-5654644	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5654000-5654200	Flanking Active TSS	Dnd41	blood
2	chr8:5654200-5656800	Enhancers	Dnd41	blood

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