Variant report

Variant	esv3391932
Chromosome Location	chr8:20338072-20342370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556445309	chr8:20338091-20338092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150396759	chr8:20338126-20338127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138157246	chr8:20338137-20338138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148892507	chr8:20338165-20338166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143605448	chr8:20338168-20338169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564959726	chr8:20338200-20338201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539984249	chr8:20338234-20338235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188781593	chr8:20338266-20338267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181545525	chr8:20338285-20338286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550769977	chr8:20338431-20338432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568932696	chr8:20338460-20338461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12675270	chr8:20338477-20338478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533592135	chr8:20338486-20338487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548464853	chr8:20338532-20338533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544392013	chr8:20338536-20338537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58642906	chr8:20338547-20338548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368142743	chr8:20338580-20338581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185952094	chr8:20338590-20338591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570938311	chr8:20338595-20338596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190716958	chr8:20338598-20338599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28436903	chr8:20340407-20340408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147602464	chr8:20340411-20340412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576279119	chr8:20340413-20340414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543656794	chr8:20340421-20340422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558059883	chr8:20340457-20340458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138666914	chr8:20340467-20340468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13275284	chr8:20340510-20340511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566312131	chr8:20340533-20340534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17092580	chr8:20340536-20340537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541175313	chr8:20340561-20340562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192233441	chr8:20340575-20340576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183919121	chr8:20340585-20340586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188337366	chr8:20340613-20340614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12679719	chr8:20340625-20340626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113667612	chr8:20340647-20340648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527653160	chr8:20340650-20340651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549686710	chr8:20340651-20340652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142876271	chr8:20340653-20340654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370171955	chr8:20340663-20340664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191674022	chr8:20340670-20340671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552605030	chr8:20340740-20340741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572734591	chr8:20340759-20340760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547549196	chr8:20340778-20340779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79933032	chr8:20340788-20340789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539490343	chr8:20340842-20340843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557672291	chr8:20340859-20340860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576147730	chr8:20340861-20340862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374515641	chr8:20340871-20340872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536987666	chr8:20340886-20340887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555239367	chr8:20340891-20340892	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20337600-20338600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr8:20338000-20338200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:20338000-20338400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:20340400-20341800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:20340600-20341200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:20340600-20341400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:20340600-20342000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:20341000-20341400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:20341000-20342000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:20341400-20341800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:20341600-20341800	Enhancers	HUES64 Cell Line	embryonic stem cell

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