Variant report

Variant	esv3520039
Chromosome Location	chr8:20781293-20784155
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	chr8:20781724..20783659-chr8:20784151..20785678,2	K562	blood:
2	chr8:20781724..20783659-chr8:20784151..20785678,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544917060	chr8:20781603-20781604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75525063	chr8:20781611-20781612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545991460	chr8:20781643-20781644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192286171	chr8:20781647-20781648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531391869	chr8:20781650-20781651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549894754	chr8:20781651-20781652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74410180	chr8:20781678-20781679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561823283	chr8:20781681-20781682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4961408	chr8:20781686-20781687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs371033550	chr8:20781723-20781724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115542383	chr8:20781726-20781727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75274827	chr8:20781790-20781791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185643042	chr8:20781874-20781875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570304142	chr8:20781920-20781921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538524224	chr8:20781963-20781964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556770384	chr8:20781979-20781980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556322612	chr8:20781987-20781988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190568889	chr8:20781991-20781992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574556662	chr8:20781992-20781993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1020222	chr8:20782074-20782075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148503922	chr8:20782078-20782079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572310265	chr8:20782102-20782103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182402577	chr8:20782110-20782111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78146475	chr8:20782170-20782171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575858123	chr8:20782181-20782182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543183081	chr8:20782189-20782190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556176451	chr8:20782220-20782221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142821835	chr8:20782225-20782226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs118173154	chr8:20782244-20782245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs974153	chr8:20782262-20782263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533353597	chr8:20782315-20782316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146755237	chr8:20782316-20782317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373822635	chr8:20782344-20782345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531150703	chr8:20782356-20782357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549568059	chr8:20782389-20782390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371324566	chr8:20782401-20782402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568174000	chr8:20782534-20782535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535158945	chr8:20782545-20782546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553829557	chr8:20782563-20782564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73629658	chr8:20782580-20782581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539396015	chr8:20782591-20782592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557649262	chr8:20782614-20782615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575895383	chr8:20782616-20782617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543222148	chr8:20782633-20782634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145407211	chr8:20782661-20782662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573776158	chr8:20782676-20782677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34177244	chr8:20782677-20782678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559783699	chr8:20782698-20782699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188213519	chr8:20782802-20782803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545359111	chr8:20782820-20782821	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20781600-20781800	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:20781600-20782400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:20781800-20782400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:20782400-20785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:20782400-20785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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