Variant report

Variant	nsv585647
Chromosome Location	chr20:15802809-15817106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 424 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:424 , 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	rs35597267	chr20:15805816-15805817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567533748	chr20:15805846-15805847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528817882	chr20:15805848-15805849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6043558	chr20:15805863-15805864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6034295	chr20:15805889-15805890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374340585	chr20:15805903-15805904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547281537	chr20:15805928-15805929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79942376	chr20:15805965-15805966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539188967	chr20:15805975-15805976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557896024	chr20:15806068-15806069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569779625	chr20:15806078-15806079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57572852	chr20:15806132-15806133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536726058	chr20:15806139-15806140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397825132	chr20:15806141-15806142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201437133	chr20:15806142-15806143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144923728	chr20:15806144-15806145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6135561	chr20:15806175-15806176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540946768	chr20:15806198-15806199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138756993	chr20:15806208-15806209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73898513	chr20:15806210-15806211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576228171	chr20:15806219-15806220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73898514	chr20:15806261-15806262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563142041	chr20:15806282-15806283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557322176	chr20:15806290-15806291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561304704	chr20:15806294-15806295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73898515	chr20:15806295-15806296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112069421	chr20:15806310-15806311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561352671	chr20:15806344-15806345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528449563	chr20:15806433-15806434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376194755	chr20:15806434-15806435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188730558	chr20:15806447-15806448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192278554	chr20:15806456-15806457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35529945	chr20:15806516-15806517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397778238	chr20:15806520-15806521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539924705	chr20:15806524-15806525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532845776	chr20:15806543-15806544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551224304	chr20:15806609-15806610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569336576	chr20:15806624-15806625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144451198	chr20:15806633-15806634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555139770	chr20:15806752-15806753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567255789	chr20:15806763-15806764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117988968	chr20:15806765-15806766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576887831	chr20:15806804-15806805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11907606	chr20:15806820-15806821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148395686	chr20:15806862-15806863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79375724	chr20:15806924-15806925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182901991	chr20:15806933-15806934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575312614	chr20:15806936-15806937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200693587	chr20:15806961-15806962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543130600	chr20:15806975-15806976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15805800-15806000	Enhancers	Gastric	stomach
2	chr20:15806000-15812000	Weak transcription	Gastric	stomach
3	chr20:15808000-15808200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr20:15808000-15808600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr20:15808000-15808800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr20:15808000-15808800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:15808200-15808600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:15808200-15808600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr20:15808200-15808600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:15808800-15809000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr20:15810400-15811400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr20:15811400-15812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:15811400-15812400	Enhancers	NHEK	skin
14	chr20:15811600-15812000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr20:15811600-15812400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:15811600-15812400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:15811600-15812600	Enhancers	HMEC	breast
18	chr20:15812000-15812400	Enhancers	Gastric	stomach
19	chr20:15812200-15812400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr20:15812200-15812400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr20:15813000-15813400	Enhancers	Brain Germinal Matrix	brain
22	chr20:15813400-15814400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr20:15813400-15814400	Weak transcription	Brain Germinal Matrix	brain
24	chr20:15813800-15814400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:15814000-15814200	Enhancers	Fetal Brain Female	brain
26	chr20:15814400-15815000	Enhancers	Brain Germinal Matrix	brain
27	chr20:15814400-15815400	Weak transcription	Fetal Brain Female	brain
28	chr20:15814400-15816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr20:15814400-15817400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr20:15815000-15816600	Weak transcription	Brain Germinal Matrix	brain
31	chr20:15815400-15815800	Enhancers	Fetal Brain Female	brain
32	chr20:15815400-15816800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:15815400-15816800	Enhancers	Fetal Heart	heart
34	chr20:15815600-15815800	Bivalent Enhancer	HSMMtube	muscle
35	chr20:15815800-15829600	Weak transcription	Fetal Brain Female	brain
36	chr20:15816600-15816800	Enhancers	Brain Germinal Matrix	brain
37	chr20:15816800-15817000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:15817000-15818200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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