Variant report

Variant	nsv525207
Chromosome Location	chr8:20685467-20691295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 248 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10103263	chr8:20685467-20685468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574005350	chr8:20685492-20685493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137859233	chr8:20685522-20685523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143406416	chr8:20685534-20685535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190637899	chr8:20685551-20685552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545590952	chr8:20685572-20685573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2616162	chr8:20685586-20685587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147151876	chr8:20685588-20685589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549931187	chr8:20685592-20685593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370261638	chr8:20685615-20685616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567961802	chr8:20685627-20685628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183272295	chr8:20685639-20685640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567753569	chr8:20685663-20685664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547090111	chr8:20685796-20685797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138931044	chr8:20685852-20685853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79625442	chr8:20685853-20685854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17494497	chr8:20685856-20685857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149440100	chr8:20685866-20685867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537124776	chr8:20685932-20685933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553698008	chr8:20685942-20685943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562870697	chr8:20686004-20686005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573942178	chr8:20686024-20686025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541374541	chr8:20686042-20686043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200775945	chr8:20686063-20686064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187574231	chr8:20686074-20686075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578170901	chr8:20686082-20686083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545750725	chr8:20686175-20686176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563851696	chr8:20686192-20686193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572263403	chr8:20686212-20686213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531178799	chr8:20686217-20686218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144767905	chr8:20686301-20686302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74393274	chr8:20686309-20686310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75609590	chr8:20686337-20686338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17093228	chr8:20686360-20686361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75069730	chr8:20686367-20686368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11985378	chr8:20686381-20686382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528065046	chr8:20686392-20686393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551289154	chr8:20686394-20686395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368504323	chr8:20686410-20686411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557905669	chr8:20686438-20686439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2583672	chr8:20686480-20686481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543966949	chr8:20686501-20686502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548914558	chr8:20686513-20686514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567704716	chr8:20686542-20686543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78127045	chr8:20686554-20686555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553316814	chr8:20686582-20686583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17093229	chr8:20686596-20686597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539336354	chr8:20686612-20686613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73668222	chr8:20686632-20686633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190703809	chr8:20686638-20686639	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20684400-20689800	Weak transcription	Fetal Heart	heart
2	chr8:20689400-20689600	Enhancers	Placenta	Placenta
3	chr8:20689400-20690200	Enhancers	Ovary	ovary
4	chr8:20689400-20690600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:20689400-20690600	Enhancers	Liver	Liver
6	chr8:20689400-20690600	Enhancers	Fetal Lung	lung
7	chr8:20689400-20690800	Enhancers	Fetal Stomach	stomach
8	chr8:20689400-20691000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:20689600-20690800	Weak transcription	Placenta	Placenta
10	chr8:20689800-20690200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:20689800-20690200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:20689800-20690200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:20689800-20690200	Enhancers	Fetal Heart	heart
14	chr8:20689800-20690400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:20689800-20690400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:20689800-20691000	Enhancers	Fetal Kidney	kidney
17	chr8:20690200-20694400	Weak transcription	Fetal Heart	heart
18	chr8:20690600-20691800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:20690800-20691800	Enhancers	Placenta	Placenta
20	chr8:20691000-20691800	Weak transcription	Fetal Kidney	kidney

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