Variant report

Variant	esv3333657
Chromosome Location	chr15:53633160-53635258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:53633620..53635255-chr15:53636615..53639104,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192212321	chr15:53633200-53633201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183366260	chr15:53633291-53633292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547858467	chr15:53633316-53633317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375163651	chr15:53633330-53633331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189226776	chr15:53633347-53633348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530170430	chr15:53633380-53633381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147662786	chr15:53633388-53633389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs272789	chr15:53633410-53633411	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377600329	chr15:53633460-53633461	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193094968	chr15:53633463-53633464	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566069848	chr15:53633484-53633485	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185511883	chr15:53633534-53633535	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114558315	chr15:53633556-53633557	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188329358	chr15:53633624-53633625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535987805	chr15:53633643-53633644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370682451	chr15:53633644-53633645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139642768	chr15:53633667-53633668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554832680	chr15:53633781-53633782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34003142	chr15:53633788-53633789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67452233	chr15:53633789-53633790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545265410	chr15:53633790-53633791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72348710	chr15:53633798-53633799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398027334	chr15:53633801-53633802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12911161	chr15:53633802-53633803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565070584	chr15:53633834-53633835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149744117	chr15:53633858-53633859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571847664	chr15:53633861-53633862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4332690	chr15:53633873-53633874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145585459	chr15:53633886-53633887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12148777	chr15:53633930-53633931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550007783	chr15:53633971-53633972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563759373	chr15:53633979-53633980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375604040	chr15:53633990-53633991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58649608	chr15:53634061-53634062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191302451	chr15:53634076-53634077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184264908	chr15:53634154-53634155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188604806	chr15:53634174-53634175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567156156	chr15:53634192-53634193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74404764	chr15:53634251-53634252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560158866	chr15:53634258-53634259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12592658	chr15:53634259-53634260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs367650236	chr15:53634282-53634283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148864872	chr15:53634294-53634295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558822221	chr15:53634326-53634327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs118187566	chr15:53634352-53634353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576384677	chr15:53634387-53634388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71474830	chr15:53634420-53634421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554800033	chr15:53634447-53634448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574748753	chr15:53634470-53634471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543836868	chr15:53634508-53634509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53630800-53639000	Weak transcription	HepG2	liver
2	chr15:53633400-53633600	Bivalent Enhancer	A549	lung

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