Variant report

Variant	esv3496409
Chromosome Location	chr8:10041312-10041627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139544488	chr8:10041315-10041316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13259030	chr8:10041318-10041319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369457652	chr8:10041319-10041320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10105294	chr8:10041321-10041322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553972263	chr8:10041354-10041355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62488746	chr8:10041372-10041373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10094809	chr8:10041385-10041386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112078536	chr8:10041386-10041387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140134947	chr8:10041400-10041401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200333993	chr8:10041402-10041403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201582936	chr8:10041408-10041409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568209270	chr8:10041424-10041425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545576141	chr8:10041444-10041445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562456160	chr8:10041463-10041464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188387402	chr8:10041479-10041480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541435346	chr8:10041489-10041490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10105511	chr8:10041495-10041496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386722142	chr8:10041508-10041509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56164721	chr8:10041511-10041512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576886181	chr8:10041519-10041520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527288893	chr8:10041521-10041522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138755028	chr8:10041522-10041523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200717545	chr8:10041527-10041528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564011366	chr8:10041532-10041533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532757186	chr8:10041533-10041534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552776951	chr8:10041545-10041546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569573237	chr8:10041571-10041572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181248181	chr8:10041601-10041602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545885141	chr8:10041620-10041621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
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
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
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
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10039600-10043400	Weak transcription	Fetal Brain Male	brain
2	chr8:10040600-10042000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:10040800-10043800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:10041600-10041800	Enhancers	Pancreas	Pancrea

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