Variant report

Variant	esv3411546
Chromosome Location	chr8:20376572-20380970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569360008	chr8:20376583-20376584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75365422	chr8:20376586-20376587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569864491	chr8:20376600-20376601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71512766	chr8:20376692-20376693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538497883	chr8:20376745-20376746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534017425	chr8:20376754-20376755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17092700	chr8:20376761-20376762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs79659585	chr8:20376792-20376793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17092702	chr8:20376797-20376798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs556596725	chr8:20376802-20376803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373630279	chr8:20376807-20376808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192854916	chr8:20376858-20376859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560864925	chr8:20376861-20376862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369013180	chr8:20376877-20376878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143076297	chr8:20376897-20376898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564927728	chr8:20376918-20376919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532222285	chr8:20376953-20376954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550735400	chr8:20377044-20377045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562666722	chr8:20377078-20377079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148230236	chr8:20377082-20377083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17092704	chr8:20377092-20377093	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184777692	chr8:20377131-20377132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566534950	chr8:20377137-20377138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552914075	chr8:20377165-20377166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571229451	chr8:20377295-20377296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533884463	chr8:20377311-20377312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188505512	chr8:20377355-20377356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570580414	chr8:20377372-20377373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111598823	chr8:20377392-20377393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538943695	chr8:20377395-20377396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556697277	chr8:20377398-20377399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141140575	chr8:20377412-20377413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536138561	chr8:20377420-20377421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192985199	chr8:20377426-20377427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150727003	chr8:20377463-20377464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140163896	chr8:20377466-20377467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184697657	chr8:20377481-20377482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80060023	chr8:20377523-20377524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73218493	chr8:20377537-20377538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544123992	chr8:20377554-20377555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562692561	chr8:20377555-20377556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13265631	chr8:20377560-20377561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111787656	chr8:20377583-20377584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529807674	chr8:20377636-20377637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74338525	chr8:20377660-20377661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117244776	chr8:20377661-20377662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113641060	chr8:20377689-20377690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573317996	chr8:20377702-20377703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112386445	chr8:20377747-20377748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17092705	chr8:20377795-20377796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20367400-20377000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:20375400-20377000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:20375400-20377200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:20375800-20377400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:20375800-20377400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:20377000-20377200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:20377000-20378000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:20377200-20377800	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:20377200-20379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:20377400-20377800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:20377400-20378200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:20379200-20379400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:20379600-20379800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:20379800-20380000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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