Variant report

Variant	esv11299
Chromosome Location	chr8:3814308-3816551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368961614	chr8:3814319-3814320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2740851	chr8:3814320-3814321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377607115	chr8:3814330-3814331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188084855	chr8:3814336-3814337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369274349	chr8:3814341-3814342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566721862	chr8:3814348-3814349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527577208	chr8:3814349-3814350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60055513	chr8:3814353-3814354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570408024	chr8:3814356-3814357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139032656	chr8:3814358-3814359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192129045	chr8:3814363-3814364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567825707	chr8:3814364-3814365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2948656	chr8:3814375-3814376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2954646	chr8:3814378-3814379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553935232	chr8:3814379-3814380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371562931	chr8:3814382-3814383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572339186	chr8:3814386-3814387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35445335	chr8:3814394-3814395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35752398	chr8:3814398-3814399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539193589	chr8:3816203-3816204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184809588	chr8:3816211-3816212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1996898	chr8:3816221-3816222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs527715589	chr8:3816238-3816239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150561276	chr8:3816243-3816244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1996899	chr8:3816265-3816266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs188156265	chr8:3816274-3816275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78161441	chr8:3816275-3816276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192679015	chr8:3816281-3816282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535438494	chr8:3816293-3816294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78389145	chr8:3816306-3816307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2627496	chr8:3816309-3816310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374700423	chr8:3816315-3816316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114614357	chr8:3816341-3816342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140119782	chr8:3816343-3816344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566434568	chr8:3816367-3816368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17068216	chr8:3816368-3816369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558016992	chr8:3816376-3816377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558583097	chr8:3816390-3816391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570459151	chr8:3816399-3816400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73178017	chr8:3816400-3816401	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556330241	chr8:3816403-3816404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143839286	chr8:3816419-3816420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540337594	chr8:3816456-3816457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145849099	chr8:3816465-3816466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535159392	chr8:3816477-3816478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554067525	chr8:3816478-3816479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148592028	chr8:3816483-3816484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545878361	chr8:3816498-3816499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564550101	chr8:3816500-3816501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529232230	chr8:3816514-3816515	Weak transcription 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
Ductal carcinoma	22052326	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
Breast cancer	21364760	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3813800-3814400	Enhancers	HepG2	liver
2	chr8:3816200-3816400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:3816200-3816400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:3816200-3817600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:3816400-3817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:3816400-3817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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