Variant report

Variant	esv3517042
Chromosome Location	chr8:1509145-1512243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 284 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533360808	chr8:1509146-1509147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143588208	chr8:1509165-1509166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145966326	chr8:1509173-1509174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535687530	chr8:1509195-1509196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555901098	chr8:1509218-1509219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191139899	chr8:1509228-1509229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538111643	chr8:1509241-1509242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536158929	chr8:1509260-1509261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558023476	chr8:1509279-1509280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530316346	chr8:1509306-1509307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577268771	chr8:1509311-1509312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540205201	chr8:1509341-1509342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73546213	chr8:1509359-1509360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573649794	chr8:1509360-1509361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542458152	chr8:1509365-1509366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138370257	chr8:1509383-1509384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112397408	chr8:1509403-1509404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386720649	chr8:1509408-1509409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67393787	chr8:1509412-1509413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554742406	chr8:1509419-1509420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55811016	chr8:1509420-1509421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371407433	chr8:1509423-1509424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373727306	chr8:1509435-1509436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2906579	chr8:1509465-1509466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2956901	chr8:1509482-1509483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2956902	chr8:1509496-1509497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs59096592	chr8:1509518-1509519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549323097	chr8:1509519-1509520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569151268	chr8:1509532-1509533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184062044	chr8:1509534-1509535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75453328	chr8:1509549-1509550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554952222	chr8:1509567-1509568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571572360	chr8:1509570-1509571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533573216	chr8:1509578-1509579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4876092	chr8:1509586-1509587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546950804	chr8:1509592-1509593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568297925	chr8:1509608-1509609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369340806	chr8:1509635-1509636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113368685	chr8:1509648-1509649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144304045	chr8:1509664-1509665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61387730	chr8:1509682-1509683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148711488	chr8:1509733-1509734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113671778	chr8:1509734-1509735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572277640	chr8:1509747-1509748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189418201	chr8:1509761-1509762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560456744	chr8:1509763-1509764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141441245	chr8:1509783-1509784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369003201	chr8:1509811-1509812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549115980	chr8:1509815-1509816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115696204	chr8:1509836-1509837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	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
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1506000-1516000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1507200-1509800	Enhancers	Fetal Brain Male	brain
3	chr8:1507200-1512000	Weak transcription	Fetal Brain Female	brain
4	chr8:1509400-1509800	Enhancers	Spleen	Spleen
5	chr8:1509800-1511000	Weak transcription	Fetal Brain Male	brain
6	chr8:1511000-1514000	Enhancers	Fetal Brain Male	brain
7	chr8:1511400-1512200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:1511600-1513000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:1511600-1513000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:1511600-1513000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:1512000-1512600	Enhancers	Fetal Brain Female	brain

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