Variant report

Variant	esv3432137
Chromosome Location	chr15:87667698-87669746
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	chr15:87666031..87668174-chr15:87674235..87675823,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572222868	chr15:87667702-87667703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568118197	chr15:87667716-87667717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187245121	chr15:87667757-87667758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529218604	chr15:87667762-87667763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553966258	chr15:87667764-87667765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546038123	chr15:87667786-87667787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146933142	chr15:87667839-87667840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137863458	chr15:87667846-87667847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4887259	chr15:87667900-87667901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576343444	chr15:87667903-87667904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543679105	chr15:87667915-87667916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562311304	chr15:87667926-87667927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199790027	chr15:87667946-87667947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141692778	chr15:87667969-87667970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550098999	chr15:87668002-87668003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190424291	chr15:87668033-87668034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150526395	chr15:87668058-87668059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559986371	chr15:87668089-87668090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377608120	chr15:87668107-87668108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181450080	chr15:87668114-87668115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111519047	chr15:87668180-87668181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570436310	chr15:87668193-87668194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139518063	chr15:87668194-87668195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531643687	chr15:87668308-87668309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138432800	chr15:87668334-87668335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142987904	chr15:87668339-87668340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16939918	chr15:87668342-87668343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11853358	chr15:87668480-87668481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374622905	chr15:87668481-87668482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200752853	chr15:87668482-87668483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566026560	chr15:87668483-87668484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60945990	chr15:87668510-87668511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71146353	chr15:87668511-87668512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199934423	chr15:87668575-87668576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111544169	chr15:87668576-87668577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186279826	chr15:87668577-87668578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112291892	chr15:87668594-87668595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140203631	chr15:87668616-87668617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12594494	chr15:87668618-87668619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114064883	chr15:87668633-87668634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12594965	chr15:87668635-87668636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35903914	chr15:87668638-87668639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555772452	chr15:87668861-87668862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574219587	chr15:87668906-87668907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7171644	chr15:87668931-87668932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559865318	chr15:87668936-87668937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374183921	chr15:87668939-87668940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572196119	chr15:87668944-87668945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79082957	chr15:87668989-87668990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553162142	chr15:87669006-87669007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Spondylocostal dysostosis	21085971	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87665600-87667800	Enhancers	Brain Germinal Matrix	brain
2	chr15:87667800-87684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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