Variant report

Variant	esv2762716
Chromosome Location	chr8:4051387-4052366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs779131	chr8:4051387-4051388	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549039127	chr8:4051389-4051390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371268656	chr8:4051405-4051406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568167777	chr8:4051406-4051407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546614455	chr8:4051417-4051418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534361459	chr8:4051427-4051428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17069331	chr8:4051440-4051441	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113485315	chr8:4051445-4051446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538369660	chr8:4051472-4051473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374668845	chr8:4051485-4051486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11989624	chr8:4051497-4051498	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs73658457	chr8:4051523-4051524	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555004098	chr8:4051534-4051535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61417289	chr8:4051549-4051550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540879732	chr8:4051575-4051576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371558073	chr8:4051588-4051589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112244593	chr8:4051589-4051590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544753276	chr8:4051592-4051593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73658458	chr8:4051604-4051605	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569094615	chr8:4051606-4051607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139564400	chr8:4051611-4051612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75908898	chr8:4051628-4051629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186626869	chr8:4051650-4051651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192523827	chr8:4051653-4051654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184079226	chr8:4051655-4051656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142845964	chr8:4051678-4051679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189026404	chr8:4051684-4051685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550305174	chr8:4051690-4051691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369596082	chr8:4051711-4051712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201419721	chr8:4051712-4051713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73658459	chr8:4051713-4051714	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535926206	chr8:4051721-4051722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555148131	chr8:4051723-4051724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374013142	chr8:4051724-4051725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566922432	chr8:4051726-4051727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73658460	chr8:4051731-4051732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116453803	chr8:4051736-4051737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192974846	chr8:4051741-4051742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73658461	chr8:4051751-4051752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs151065700	chr8:4051775-4051776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185209252	chr8:4051811-4051812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73658462	chr8:4051839-4051840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561160394	chr8:4051903-4051904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532781584	chr8:4051909-4051910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188641699	chr8:4051914-4051915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528239373	chr8:4051915-4051916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73658463	chr8:4051923-4051924	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564833595	chr8:4051934-4051935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149713748	chr8:4051936-4051937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550556554	chr8:4051966-4051967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Schizophrenia	21346763	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4049800-4054000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:4050400-4051800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:4050600-4053800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:4051000-4052800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:4051200-4052000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:4051400-4053200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:4051800-4052000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:4052000-4052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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