Variant report

Variant	nsv516291
Chromosome Location	chr20:40952914-40970090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 425 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6102774	chr20:40952914-40952915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142749123	chr20:40952928-40952929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6072685	chr20:40952929-40952930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372456891	chr20:40952942-40952943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191365420	chr20:40952970-40952971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576127818	chr20:40953058-40953059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183619101	chr20:40953064-40953065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73273154	chr20:40953096-40953097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147368449	chr20:40953097-40953098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186906535	chr20:40953099-40953100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561224901	chr20:40953106-40953107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137910407	chr20:40953111-40953112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549689577	chr20:40953136-40953137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562510022	chr20:40953181-40953182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531608178	chr20:40953198-40953199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192191686	chr20:40953271-40953272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571454980	chr20:40953307-40953308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183959394	chr20:40953384-40953385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6093621	chr20:40953408-40953409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6093622	chr20:40953529-40953530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186652286	chr20:40953530-40953531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191451532	chr20:40953586-40953587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576066463	chr20:40953588-40953589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538639089	chr20:40953589-40953590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558681268	chr20:40953594-40953595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115633493	chr20:40953656-40953657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541201333	chr20:40953682-40953683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149450966	chr20:40953694-40953695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531980383	chr20:40953703-40953704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574593417	chr20:40953776-40953777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543275150	chr20:40953781-40953782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563247643	chr20:40953804-40953805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6072686	chr20:40953812-40953813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs117630589	chr20:40953814-40953815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529234523	chr20:40953953-40953954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527812151	chr20:40953958-40953959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144400651	chr20:40953983-40953984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571772816	chr20:40954015-40954016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182493664	chr20:40954016-40954017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187129553	chr20:40954018-40954019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148793208	chr20:40954066-40954067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549656555	chr20:40954088-40954089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569620205	chr20:40954142-40954143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115109813	chr20:40954163-40954164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558618078	chr20:40954223-40954224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538527119	chr20:40954224-40954225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370662453	chr20:40954241-40954242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547655614	chr20:40954252-40954253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192777890	chr20:40954286-40954287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534387147	chr20:40954337-40954338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40945000-40957400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40956200-40957000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr20:40957400-40957800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:40958000-40958200	Enhancers	Fetal Brain Male	brain
5	chr20:40964000-40964400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr20:40964400-40966800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:40964800-40969800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr20:40965000-40965200	Enhancers	Brain Angular Gyrus	brain
9	chr20:40965000-40965200	Enhancers	Fetal Brain Male	brain
10	chr20:40965000-40965800	Enhancers	Fetal Stomach	stomach
11	chr20:40965000-40970400	Enhancers	Fetal Muscle Leg	muscle
12	chr20:40965200-40967200	Weak transcription	Fetal Brain Male	brain
13	chr20:40965400-40966800	Weak transcription	Brain Angular Gyrus	brain
14	chr20:40965600-40969400	Enhancers	Fetal Lung	lung
15	chr20:40965800-40967000	Weak transcription	Fetal Stomach	stomach
16	chr20:40966200-40966800	Enhancers	Left Ventricle	heart
17	chr20:40966400-40966800	Enhancers	Right Ventricle	heart
18	chr20:40966400-40968400	Enhancers	Brain Hippocampus Middle	brain
19	chr20:40966600-40966800	Enhancers	Right Atrium	heart
20	chr20:40966600-40966800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr20:40966600-40967800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr20:40966600-40968200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr20:40966600-40968200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr20:40966600-40968800	Enhancers	Psoas Muscle	Psoas
25	chr20:40966800-40967800	Weak transcription	Right Atrium	heart
26	chr20:40966800-40968000	Weak transcription	Right Ventricle	heart
27	chr20:40966800-40968200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr20:40966800-40968400	Enhancers	Brain Angular Gyrus	brain
29	chr20:40966800-40969200	Weak transcription	Left Ventricle	heart
30	chr20:40967000-40967600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr20:40967000-40968200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr20:40967000-40968800	Enhancers	Adipose Nuclei	Adipose
33	chr20:40967000-40969200	Enhancers	Fetal Stomach	stomach
34	chr20:40967200-40968000	Enhancers	Fetal Brain Male	brain
35	chr20:40967600-40968200	Enhancers	Brain Substantia Nigra	brain
36	chr20:40967800-40968400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr20:40967800-40968600	Enhancers	Right Atrium	heart
38	chr20:40968200-40968400	Enhancers	Right Ventricle	heart
39	chr20:40968200-40968800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr20:40968200-40987800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr20:40969200-40969400	Enhancers	Left Ventricle	heart
42	chr20:40969800-40972800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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