Variant report

Variant	esv3404020
Chromosome Location	chr8:8552378-8553253
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	chr8:8553109..8555242-chr8:8558598..8560731,2	MCF-7	breast:
2	chr8:8553226..8556449-chr8:8563078..8566145,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176305	chromatin interactions
ENSG00000253958	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111232875	chr8:8552443-8552444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377215999	chr8:8552469-8552470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117528730	chr8:8552544-8552545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13262980	chr8:8552548-8552549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs571872022	chr8:8552561-8552562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531097701	chr8:8552567-8552568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192068879	chr8:8552582-8552583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13263254	chr8:8552627-8552628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182952980	chr8:8552672-8552673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553329310	chr8:8552677-8552678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187292160	chr8:8552681-8552682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76385426	chr8:8552682-8552683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575527252	chr8:8552706-8552707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557587653	chr8:8552711-8552712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577439257	chr8:8552742-8552743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191333216	chr8:8552744-8552745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556814889	chr8:8552752-8552753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141778242	chr8:8552766-8552767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371540896	chr8:8552769-8552770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539877043	chr8:8552783-8552784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374718040	chr8:8552784-8552785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146011750	chr8:8552785-8552786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559307436	chr8:8552798-8552799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139917449	chr8:8552814-8552815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182360705	chr8:8552842-8552843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143279061	chr8:8552844-8552845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146685402	chr8:8552846-8552847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551172690	chr8:8552856-8552857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567703358	chr8:8552864-8552865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187740081	chr8:8552871-8552872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546739047	chr8:8552887-8552888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113933173	chr8:8552913-8552914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538623917	chr8:8552933-8552934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551281005	chr8:8552942-8552943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185885958	chr8:8552944-8552945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536891139	chr8:8552973-8552974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557107105	chr8:8553004-8553005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189955446	chr8:8553013-8553014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536347480	chr8:8553017-8553018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193190884	chr8:8553046-8553047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75378981	chr8:8553075-8553076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545004736	chr8:8553079-8553080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565604132	chr8:8553083-8553084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576006003	chr8:8553089-8553090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544521056	chr8:8553141-8553142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs139051920	chr8:8553146-8553147	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs561540924	chr8:8553151-8553152	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372857061	chr8:8553157-8553158	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs77479776	chr8:8553180-8553181	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs200930802	chr8:8553217-8553218	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
Prostate cancer	16573809	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
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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8547000-8555600	Weak transcription	Gastric	stomach
2	chr8:8549800-8558400	Weak transcription	Pancreas	Pancrea
3	chr8:8550200-8554400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:8550400-8555400	Weak transcription	Fetal Intestine Small	intestine
5	chr8:8550800-8553800	Weak transcription	Stomach Mucosa	stomach

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