Variant report

Variant	esv3356696
Chromosome Location	chr8:20953522-20954770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144499628	chr8:20953526-20953527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570207359	chr8:20953535-20953536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537611399	chr8:20953561-20953562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113549954	chr8:20953615-20953616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148389999	chr8:20953628-20953629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541448064	chr8:20953705-20953706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73621569	chr8:20953776-20953777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182372231	chr8:20953808-20953809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533335904	chr8:20953854-20953855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141352937	chr8:20953870-20953871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59034239	chr8:20953872-20953873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28384250	chr8:20953873-20953874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369273148	chr8:20953908-20953909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187958778	chr8:20953951-20953952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112435802	chr8:20953960-20953961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74818347	chr8:20954054-20954055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549306470	chr8:20954060-20954061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531424785	chr8:20954071-20954072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200718049	chr8:20954081-20954082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201763555	chr8:20954084-20954085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543181007	chr8:20954086-20954087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376712358	chr8:20954087-20954088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28722644	chr8:20954088-20954089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71524492	chr8:20954090-20954091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371425950	chr8:20954092-20954093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113274067	chr8:20954116-20954117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367976115	chr8:20954134-20954135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372528776	chr8:20954176-20954177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529303449	chr8:20954177-20954178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185097448	chr8:20954179-20954180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547523631	chr8:20954191-20954192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566058313	chr8:20954221-20954222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75596580	chr8:20954275-20954276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552069775	chr8:20954316-20954317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570328055	chr8:20954361-20954362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377043819	chr8:20954388-20954389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190736656	chr8:20954448-20954449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192414140	chr8:20954461-20954462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151299293	chr8:20954486-20954487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553516553	chr8:20954507-20954508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571991094	chr8:20954510-20954511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545447375	chr8:20954514-20954515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140572884	chr8:20954527-20954528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575884961	chr8:20954535-20954536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111342550	chr8:20954536-20954537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs118046016	chr8:20954537-20954538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561534616	chr8:20954574-20954575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544400044	chr8:20954608-20954609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541490643	chr8:20954613-20954614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117778960	chr8:20954615-20954616	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20949000-20958200	Weak transcription	Psoas Muscle	Psoas
2	chr8:20949800-20956400	Weak transcription	Fetal Brain Male	brain
3	chr8:20952200-20953800	Enhancers	Spleen	Spleen
4	chr8:20952200-20954400	Enhancers	Brain Germinal Matrix	brain
5	chr8:20952400-20956400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:20952600-20953600	Enhancers	Adipose Nuclei	Adipose
7	chr8:20952800-20953800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:20953000-20953800	Enhancers	Left Ventricle	heart
9	chr8:20953200-20953800	Enhancers	Lung	lung
10	chr8:20953600-20958200	Weak transcription	Adipose Nuclei	Adipose
11	chr8:20953800-20956600	Weak transcription	Lung	lung
12	chr8:20953800-20956800	Weak transcription	Left Ventricle	heart
13	chr8:20954400-20956600	Weak transcription	Brain Germinal Matrix	brain

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