Variant report

Variant	esv11099
Chromosome Location	chr8:19871323-19872028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528048985	chr8:19871323-19871324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373472907	chr8:19871331-19871332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1372341	chr8:19871332-19871333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1372340	chr8:19871372-19871373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189037884	chr8:19871383-19871384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568690083	chr8:19871435-19871436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536083314	chr8:19871458-19871459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149213069	chr8:19871468-19871469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142299239	chr8:19871472-19871473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2410626	chr8:19871487-19871488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2410627	chr8:19871513-19871514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562734800	chr8:19871517-19871518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370626834	chr8:19871529-19871530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7461115	chr8:19871540-19871541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs567859584	chr8:19871556-19871557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181822983	chr8:19871577-19871578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2898494	chr8:19871580-19871581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186420701	chr8:19871606-19871607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115407465	chr8:19871610-19871611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2410628	chr8:19871629-19871630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2410629	chr8:19871637-19871638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs540189545	chr8:19871670-19871671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564710071	chr8:19871729-19871730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189693717	chr8:19871744-19871745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200369832	chr8:19871751-19871752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs207468987	chr8:19871753-19871754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140471186	chr8:19871778-19871779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182860116	chr8:19871841-19871842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79589168	chr8:19871842-19871843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186186035	chr8:19871849-19871850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2898495	chr8:19871892-19871893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555585243	chr8:19871909-19871910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145692820	chr8:19871951-19871952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558843751	chr8:19871966-19871967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191482234	chr8:19871972-19871973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538276388	chr8:19871974-19871975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138292502	chr8:19871978-19871979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115854849	chr8:19871996-19871997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4593558	chr8:19872008-19872009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs554420327	chr8:19872012-19872013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19865600-19877000	Weak transcription	Left Ventricle	heart
2	chr8:19867400-19881800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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