Variant report

Variant	esv3346843
Chromosome Location	chr8:20721672-20724120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374456782	chr8:20721673-20721674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114505070	chr8:20721685-20721686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571741808	chr8:20721688-20721689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13277522	chr8:20721706-20721707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149963264	chr8:20721715-20721716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7462668	chr8:20721748-20721749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184706824	chr8:20721797-20721798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559168429	chr8:20721803-20721804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144976095	chr8:20721807-20721808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571383328	chr8:20721864-20721865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573074570	chr8:20721902-20721903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540849719	chr8:20721928-20721929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559171824	chr8:20721936-20721937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577710612	chr8:20721937-20721938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544678279	chr8:20721939-20721940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201564510	chr8:20721953-20721954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563250350	chr8:20721972-20721973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530528623	chr8:20721980-20721981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540069261	chr8:20723010-20723011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532224251	chr8:20723012-20723013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551026193	chr8:20723035-20723036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78695346	chr8:20723061-20723062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564772003	chr8:20723062-20723063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532154215	chr8:20723090-20723091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566823559	chr8:20723190-20723191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534460890	chr8:20723191-20723192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141259118	chr8:20723239-20723240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577331863	chr8:20723256-20723257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538075020	chr8:20723329-20723330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146927663	chr8:20723336-20723337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575443455	chr8:20723345-20723346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562631220	chr8:20723380-20723381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529751563	chr8:20723389-20723390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547924536	chr8:20723404-20723405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542635122	chr8:20723412-20723413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369289170	chr8:20723421-20723422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73668250	chr8:20723478-20723479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540479467	chr8:20723479-20723480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191649126	chr8:20723487-20723488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74492280	chr8:20723493-20723494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7838477	chr8:20723510-20723511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs62496935	chr8:20723517-20723518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184239845	chr8:20723545-20723546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530990861	chr8:20723571-20723572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566820489	chr8:20723626-20723627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527698154	chr8:20723636-20723637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs137927491	chr8:20723685-20723686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368917235	chr8:20723699-20723700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190140296	chr8:20723717-20723718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538416946	chr8:20723741-20723742	Enhancers	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20721600-20722000	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr8:20721600-20722000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr8:20721800-20722000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr8:20723000-20724800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:20723200-20725000	Enhancers	NH-A	brain
6	chr8:20723200-20725800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:20723400-20724600	Enhancers	HSMM	muscle
8	chr8:20723400-20724800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:20723400-20724800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:20723600-20724200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:20723600-20724800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:20723800-20724600	Enhancers	HSMMtube	muscle
13	chr8:20723800-20725400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:20724000-20724200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:20724000-20724600	Enhancers	Brain Anterior Caudate	brain
16	chr8:20724000-20725200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr8:20724000-20725200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:20724000-20725400	Enhancers	HUES48 Cell Line	embryonic stem cell

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