Variant report

Variant	esv2762063
Chromosome Location	chr20:15755244-15765167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 414 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:414 , 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	rs41533249	chr20:15755244-15755245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533197484	chr20:15755269-15755270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79349828	chr20:15755270-15755271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543499702	chr20:15755276-15755277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561527289	chr20:15755297-15755298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186505682	chr20:15755298-15755299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147863061	chr20:15755300-15755301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540658855	chr20:15755320-15755321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535310901	chr20:15755324-15755325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533243375	chr20:15755355-15755356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551624576	chr20:15755365-15755366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563438448	chr20:15755374-15755375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61572126	chr20:15755375-15755376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62194715	chr20:15755416-15755417	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111739123	chr20:15755453-15755454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188522777	chr20:15755501-15755502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578067962	chr20:15755554-15755555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547923691	chr20:15755557-15755558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546654755	chr20:15755565-15755566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74371061	chr20:15755615-15755616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75305331	chr20:15755666-15755667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6514614	chr20:15755668-15755669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75992135	chr20:15755670-15755671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74418039	chr20:15755674-15755675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79205457	chr20:15755679-15755680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6110776	chr20:15755681-15755682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77104183	chr20:15755682-15755683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78322089	chr20:15755688-15755689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76143785	chr20:15755699-15755700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79992154	chr20:15755702-15755703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77651563	chr20:15755703-15755704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73614455	chr20:15755718-15755719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575390365	chr20:15755723-15755724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114071695	chr20:15755724-15755725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73614456	chr20:15755726-15755727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78554500	chr20:15755728-15755729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73614457	chr20:15755739-15755740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555481101	chr20:15755741-15755742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573640435	chr20:15755748-15755749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77756150	chr20:15755766-15755767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79720313	chr20:15755767-15755768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150935217	chr20:15755768-15755769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77291607	chr20:15755773-15755774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559059066	chr20:15755784-15755785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78873027	chr20:15755796-15755797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76923027	chr20:15755799-15755800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76957040	chr20:15755802-15755803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578010684	chr20:15755804-15755805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545283782	chr20:15755820-15755821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117950223	chr20:15755847-15755848	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15754200-15755400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr20:15754400-15755400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr20:15754600-15755400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr20:15754800-15755400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr20:15755200-15757200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr20:15755200-15757200	Enhancers	Placenta	Placenta
7	chr20:15755200-15757600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:15755400-15756800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr20:15755400-15757400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr20:15757200-15757800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr20:15757400-15757600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr20:15757400-15757800	Enhancers	Brain Hippocampus Middle	brain
13	chr20:15757400-15758200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr20:15757600-15758000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr20:15757800-15759600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr20:15758200-15768800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr20:15759600-15760400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr20:15760400-15765800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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