Variant report

Variant	esv994129
Chromosome Location	chr15:53325369-53328207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76769606	chr15:53325425-53325426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185799228	chr15:53325485-53325486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191498920	chr15:53325506-53325507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536796836	chr15:53325536-53325537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78807367	chr15:53325563-53325564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182823275	chr15:53325605-53325606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72728903	chr15:53325609-53325610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs78276451	chr15:53325617-53325618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2639684	chr15:53325620-53325621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2639685	chr15:53325691-53325692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2651508	chr15:53325779-53325780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72728905	chr15:53325784-53325785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143876098	chr15:53325848-53325849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562690450	chr15:53325860-53325861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533546551	chr15:53325879-53325880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187481148	chr15:53325916-53325917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565076248	chr15:53325951-53325952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77574579	chr15:53325955-53325956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114589674	chr15:53325981-53325982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28448591	chr15:53325989-53325990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561341966	chr15:53326008-53326009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147241361	chr15:53326016-53326017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550331989	chr15:53326101-53326102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76929176	chr15:53326108-53326109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568884769	chr15:53326130-53326131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546734911	chr15:53326152-53326153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191989770	chr15:53326190-53326191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183442870	chr15:53326192-53326193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370328935	chr15:53326199-53326200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72728906	chr15:53326316-53326317	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553372417	chr15:53326353-53326354	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573337866	chr15:53326363-53326364	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535922662	chr15:53326368-53326369	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367860420	chr15:53326385-53326386	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187728220	chr15:53326386-53326387	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544885860	chr15:53326396-53326397	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149738248	chr15:53326447-53326448	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572393535	chr15:53326458-53326459	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs193017715	chr15:53326483-53326484	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs115192702	chr15:53326484-53326485	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs78829092	chr15:53326520-53326521	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs75473322	chr15:53326555-53326556	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs184484553	chr15:53326564-53326565	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs563671873	chr15:53326608-53326609	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532696383	chr15:53326622-53326623	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145574132	chr15:53326626-53326627	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566332699	chr15:53326641-53326642	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs148445192	chr15:53326645-53326646	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs142565681	chr15:53326663-53326664	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs552905285	chr15:53326673-53326674	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Melanoma	21949216	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53322800-53326400	Enhancers	HepG2	liver
2	chr15:53323400-53326200	Enhancers	Liver	Liver
3	chr15:53326200-53326400	Flanking Active TSS	Liver	Liver
4	chr15:53326400-53326600	Enhancers	Liver	Liver
5	chr15:53326400-53327000	Flanking Active TSS	HepG2	liver
6	chr15:53326600-53326800	Flanking Active TSS	Liver	Liver
7	chr15:53326800-53327800	Enhancers	Liver	Liver
8	chr15:53327000-53327200	Enhancers	HepG2	liver
9	chr15:53327200-53327400	Flanking Active TSS	HepG2	liver
10	chr15:53327400-53328400	Enhancers	HepG2	liver
11	chr15:53327800-53328200	Flanking Active TSS	Liver	Liver
12	chr15:53328200-53330600	Enhancers	Liver	Liver

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