Variant report

Variant	esv16705
Chromosome Location	chr15:53514691-53515746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202015726	chr15:53514692-53514693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386784041	chr15:53514693-53514694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200040331	chr15:53514694-53514695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8027357	chr15:53514712-53514713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140347570	chr15:53514717-53514718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537055133	chr15:53514721-53514722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2681973	chr15:53514739-53514740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568300178	chr15:53514757-53514758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8027674	chr15:53514765-53514766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557176353	chr15:53514799-53514800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8027387	chr15:53514800-53514801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539787733	chr15:53514810-53514811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142599923	chr15:53514819-53514820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572980983	chr15:53514863-53514864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541967421	chr15:53514870-53514871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555450311	chr15:53514928-53514929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150957865	chr15:53514936-53514937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6493617	chr15:53514941-53514942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140756986	chr15:53514943-53514944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533489450	chr15:53514952-53514953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150112391	chr15:53514986-53514987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1989536	chr15:53514990-53514991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7166978	chr15:53515015-53515016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572495848	chr15:53515020-53515021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34627911	chr15:53515032-53515033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35599889	chr15:53515033-53515034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3081052	chr15:53515037-53515038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576501226	chr15:53515053-53515054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201184957	chr15:53515119-53515120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548270183	chr15:53515139-53515140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568167894	chr15:53515156-53515157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370841887	chr15:53515163-53515164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1911687	chr15:53515197-53515198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570711601	chr15:53515248-53515249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112448240	chr15:53515262-53515263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552947253	chr15:53515275-53515276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11333005	chr15:53515281-53515282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs517547	chr15:53515306-53515307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555413343	chr15:53515323-53515324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190792780	chr15:53515326-53515327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7167895	chr15:53515341-53515342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558095582	chr15:53515342-53515343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62023583	chr15:53515382-53515383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373845543	chr15:53515422-53515423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7171938	chr15:53515432-53515433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7172105	chr15:53515460-53515461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528047142	chr15:53515478-53515479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541870712	chr15:53515490-53515491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561789860	chr15:53515533-53515534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114127673	chr15:53515574-53515575	Weak transcription	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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53503600-53515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:53510000-53515600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:53512200-53519800	Weak transcription	HepG2	liver
4	chr15:53515600-53517600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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