Variant report

Variant	esv3350062
Chromosome Location	chr20:15773602-15775700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537904044	chr20:15773631-15773632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550293331	chr20:15773698-15773699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545813418	chr20:15773726-15773727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139541881	chr20:15773767-15773768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368082962	chr20:15773769-15773770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371569863	chr20:15773774-15773775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201942213	chr20:15773788-15773789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535831901	chr20:15773835-15773836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371133427	chr20:15773893-15773894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184633010	chr20:15773895-15773896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150212245	chr20:15773922-15773923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558028112	chr20:15773927-15773928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375395388	chr20:15773978-15773979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138674044	chr20:15773995-15773996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115292971	chr20:15774002-15774003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141703339	chr20:15774022-15774023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541406263	chr20:15774029-15774030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189568744	chr20:15774046-15774047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543502675	chr20:15774065-15774066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545989873	chr20:15774071-15774072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6131708	chr20:15774088-15774089	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529836100	chr20:15774095-15774096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117840713	chr20:15774096-15774097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568542203	chr20:15774135-15774136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529327342	chr20:15774272-15774273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547777787	chr20:15774302-15774303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566371366	chr20:15774322-15774323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6135523	chr20:15774343-15774344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145603131	chr20:15774359-15774360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111500091	chr20:15774462-15774463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566797343	chr20:15774517-15774518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558425918	chr20:15774556-15774557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557928414	chr20:15774588-15774589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6135524	chr20:15774594-15774595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76892516	chr20:15774611-15774612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537232721	chr20:15774628-15774629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555870865	chr20:15774629-15774630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76387746	chr20:15774666-15774667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574170130	chr20:15774682-15774683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541441486	chr20:15774683-15774684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553451224	chr20:15774689-15774690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149465742	chr20:15774691-15774692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192250466	chr20:15774720-15774721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185067020	chr20:15774785-15774786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35973686	chr20:15774842-15774843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs111455487	chr20:15774911-15774912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562179083	chr20:15774930-15774931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529364739	chr20:15774941-15774942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148603254	chr20:15774968-15774969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75347768	chr20:15774975-15774976	Weak transcription Enhancers	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15770000-15775000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:15770000-15775200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:15770200-15773800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr20:15770200-15775000	Weak transcription	Brain Germinal Matrix	brain
5	chr20:15770200-15775200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:15770200-15775800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:15770200-15776400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr20:15770600-15775000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr20:15770800-15780000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:15773400-15774200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr20:15773600-15774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr20:15773600-15777600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr20:15774200-15775200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr20:15775000-15775400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:15775000-15776000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr20:15775000-15776800	Enhancers	Brain Germinal Matrix	brain
17	chr20:15775200-15775400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr20:15775200-15775400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr20:15775200-15776800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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