Variant report

Variant	esv3341148
Chromosome Location	chr8:1504745-1508943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 268 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:268 , 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	rs373138294	chr8:1504775-1504776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559938677	chr8:1504779-1504780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554048184	chr8:1504801-1504802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528802137	chr8:1504807-1504808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2956894	chr8:1504812-1504813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562239878	chr8:1504832-1504833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145205030	chr8:1504858-1504859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550293671	chr8:1504893-1504894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570543973	chr8:1504894-1504895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144378110	chr8:1504941-1504942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs202096687	chr8:1504947-1504948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181159306	chr8:1504949-1504950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370773509	chr8:1504962-1504963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566290674	chr8:1504963-1504964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535262039	chr8:1504975-1504976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536361365	chr8:1504984-1504985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558394344	chr8:1505004-1505005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111903703	chr8:1505014-1505015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs137875202	chr8:1505015-1505016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557043668	chr8:1505023-1505024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186040414	chr8:1505061-1505062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190403586	chr8:1505082-1505083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80175281	chr8:1505087-1505088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573521746	chr8:1505108-1505109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542034455	chr8:1505113-1505114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75095177	chr8:1505126-1505127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182508585	chr8:1505138-1505139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531079590	chr8:1505139-1505140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544218213	chr8:1505143-1505144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187031490	chr8:1505177-1505178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532875373	chr8:1505182-1505183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2956895	chr8:1505183-1505184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs3793419	chr8:1505200-1505201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377141017	chr8:1505204-1505205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529082362	chr8:1505225-1505226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548890230	chr8:1505232-1505233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142382625	chr8:1505233-1505234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537702041	chr8:1505256-1505257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557333479	chr8:1505258-1505259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191051628	chr8:1505275-1505276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2956896	chr8:1505290-1505291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570395907	chr8:1505316-1505317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573357618	chr8:1505340-1505341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577043772	chr8:1505347-1505348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541254754	chr8:1505392-1505393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536064462	chr8:1505395-1505396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73544402	chr8:1505409-1505410	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146027357	chr8:1505449-1505450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182404594	chr8:1505463-1505464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73546203	chr8:1505467-1505468	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1487000-1505200	Weak transcription	Fetal Brain Female	brain
2	chr8:1496400-1506800	Weak transcription	Brain Angular Gyrus	brain
3	chr8:1500800-1506600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:1501400-1507200	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:1504200-1506600	Enhancers	Fetal Brain Male	brain
6	chr8:1504600-1505400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:1505200-1507200	Enhancers	Fetal Brain Female	brain
8	chr8:1505400-1505600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:1505600-1505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:1505800-1506000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:1505800-1506000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr8:1506000-1516000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:1506400-1506800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:1506600-1507000	Active TSS	Fetal Kidney	kidney
15	chr8:1506600-1507200	Flanking Active TSS	Fetal Brain Male	brain
16	chr8:1506800-1507000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr8:1506800-1507200	Enhancers	Brain Angular Gyrus	brain
18	chr8:1507200-1507600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:1507200-1507600	Enhancers	Colon Smooth Muscle	Colon
20	chr8:1507200-1509800	Enhancers	Fetal Brain Male	brain
21	chr8:1507200-1512000	Weak transcription	Fetal Brain Female	brain

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