Variant report

Variant	esv3335651
Chromosome Location	chr20:15799202-15801125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201305105	chr20:15799212-15799213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191345530	chr20:15799216-15799217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539175786	chr20:15799246-15799247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73614461	chr20:15799261-15799262	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576245360	chr20:15799281-15799282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34754063	chr20:15799314-15799315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6074952	chr20:15799325-15799326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561701398	chr20:15799342-15799343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573548659	chr20:15799358-15799359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185053525	chr20:15799362-15799363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559555079	chr20:15799375-15799376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573923744	chr20:15799428-15799429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532993330	chr20:15799461-15799462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551205488	chr20:15799466-15799467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563141896	chr20:15799488-15799489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530937661	chr20:15799502-15799503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549046711	chr20:15799513-15799514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542929279	chr20:15799561-15799562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567566054	chr20:15799573-15799574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561285658	chr20:15799577-15799578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62194752	chr20:15799593-15799594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574671114	chr20:15799620-15799621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189039026	chr20:15799670-15799671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139187335	chr20:15799673-15799674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77415622	chr20:15799690-15799691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6110794	chr20:15799726-15799727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193005462	chr20:15799730-15799731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185320504	chr20:15799754-15799755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13045544	chr20:15799755-15799756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189851437	chr20:15799766-15799767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540982563	chr20:15799863-15799864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11467491	chr20:15799864-15799865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3071401	chr20:15799871-15799872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34945474	chr20:15799872-15799873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117767505	chr20:15799882-15799883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144005903	chr20:15799883-15799884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200023443	chr20:15799887-15799888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536146755	chr20:15799894-15799895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201310165	chr20:15799895-15799896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555741438	chr20:15799949-15799950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577918161	chr20:15799969-15799970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544884304	chr20:15799973-15799974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35096457	chr20:15799998-15799999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368344137	chr20:15800006-15800007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372474490	chr20:15800049-15800050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563174676	chr20:15800060-15800061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145943782	chr20:15800071-15800072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201904777	chr20:15800092-15800093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530582395	chr20:15800100-15800101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549085418	chr20:15800156-15800157	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15798200-15799800	Enhancers	Placenta	Placenta
2	chr20:15798200-15799800	Enhancers	HSMMtube	muscle
3	chr20:15798400-15799600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr20:15798400-15799800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:15798400-15799800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr20:15799000-15799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr20:15799000-15799600	Enhancers	Liver	Liver
8	chr20:15799000-15799600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr20:15799000-15799800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr20:15799000-15799800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:15799000-15799800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:15799000-15799800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr20:15799000-15799800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr20:15799000-15799800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr20:15799200-15799600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:15799200-15799600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:15799200-15799600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr20:15799200-15799800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr20:15799200-15799800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr20:15799200-15799800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr20:15799400-15799800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr20:15799800-15801000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr20:15801000-15801800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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