Variant report

Variant	esv1803225
Chromosome Location	chr8:20684287-20693912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 451 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2616157	chr8:20684287-20684288	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535694204	chr8:20684297-20684298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554350198	chr8:20684317-20684318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2616158	chr8:20684331-20684332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533908860	chr8:20684343-20684344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2616159	chr8:20684346-20684347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs4921729	chr8:20684365-20684366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115918989	chr8:20684409-20684410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192310481	chr8:20684447-20684448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574794645	chr8:20684466-20684467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2616160	chr8:20684477-20684478	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs561809195	chr8:20684488-20684489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574414743	chr8:20684489-20684490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373217038	chr8:20684506-20684507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541687610	chr8:20684516-20684517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78271352	chr8:20684531-20684532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572415753	chr8:20684568-20684569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546314264	chr8:20684607-20684608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564120724	chr8:20684610-20684611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534925911	chr8:20684614-20684615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184739820	chr8:20684615-20684616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553257183	chr8:20684622-20684623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553634957	chr8:20684633-20684634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376406569	chr8:20684686-20684687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189032456	chr8:20684692-20684693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530917324	chr8:20684695-20684696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529592507	chr8:20684703-20684704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35034023	chr8:20684731-20684732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2616161	chr8:20684732-20684733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7460973	chr8:20684754-20684755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552327764	chr8:20684772-20684773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545819315	chr8:20684773-20684774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545969179	chr8:20684781-20684782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571563306	chr8:20684826-20684827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538296803	chr8:20684830-20684831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556198365	chr8:20684833-20684834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574757707	chr8:20684866-20684867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535758731	chr8:20684880-20684881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553671067	chr8:20684888-20684889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564117600	chr8:20684912-20684913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572235596	chr8:20684922-20684923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79225130	chr8:20684926-20684927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545980507	chr8:20684927-20684928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180985838	chr8:20684946-20684947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576141100	chr8:20684993-20684994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543362610	chr8:20684994-20684995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564431347	chr8:20684998-20684999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2583671	chr8:20685010-20685011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371346178	chr8:20685036-20685037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543859084	chr8:20685090-20685091	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20683000-20684400	Enhancers	Fetal Heart	heart
2	chr8:20683000-20684400	Enhancers	Fetal Stomach	stomach
3	chr8:20683000-20684600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:20683200-20684400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:20683800-20684600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:20684400-20689800	Weak transcription	Fetal Heart	heart
7	chr8:20689400-20689600	Enhancers	Placenta	Placenta
8	chr8:20689400-20690200	Enhancers	Ovary	ovary
9	chr8:20689400-20690600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:20689400-20690600	Enhancers	Liver	Liver
11	chr8:20689400-20690600	Enhancers	Fetal Lung	lung
12	chr8:20689400-20690800	Enhancers	Fetal Stomach	stomach
13	chr8:20689400-20691000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:20689600-20690800	Weak transcription	Placenta	Placenta
15	chr8:20689800-20690200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:20689800-20690200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:20689800-20690200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:20689800-20690200	Enhancers	Fetal Heart	heart
19	chr8:20689800-20690400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:20689800-20690400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:20689800-20691000	Enhancers	Fetal Kidney	kidney
22	chr8:20690200-20694400	Weak transcription	Fetal Heart	heart
23	chr8:20690600-20691800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:20690800-20691800	Enhancers	Placenta	Placenta
25	chr8:20691000-20691800	Weak transcription	Fetal Kidney	kidney
26	chr8:20691800-20692000	Enhancers	Fetal Kidney	kidney
27	chr8:20692000-20692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:20692000-20692400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:20692000-20692400	Weak transcription	Fetal Kidney	kidney
30	chr8:20692200-20692400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:20692400-20692600	Enhancers	Colon Smooth Muscle	Colon
32	chr8:20692400-20693400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:20692600-20693400	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:20693400-20694200	Enhancers	Colon Smooth Muscle	Colon
35	chr8:20693400-20694400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:20693600-20694400	Enhancers	Rectal Smooth Muscle	rectum

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